| | | Single nucleotide variant (missense variant) | Persistent Mullerian duct syndrome | |
| | | Single nucleotide variant (nonsense) | Persistent Mullerian duct syndrome | |
| | | Single nucleotide variant (stop lost) | Persistent Mullerian duct syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Persistent Mullerian duct syndrome | |
| | | Single nucleotide variant (nonsense) | Persistent Mullerian duct syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Persistent Mullerian duct syndrome | |
| | | Single nucleotide variant (nonsense) | Persistent Mullerian duct syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Persistent Mullerian duct syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Persistent Mullerian duct syndrome +1 more | |
| | | Deletion (frameshift variant) | Persistent Mullerian duct syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Persistent Mullerian duct syndrome | |
| | | Deletion (frameshift variant) | Persistent Mullerian duct syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Persistent Mullerian duct syndrome | |
| | | Single nucleotide variant (missense variant) | Persistent Mullerian duct syndrome +1 more | GConflicting classifications of pathogenicity |
| | AMH, LOC130063038 +1 more (C188Y) | Single nucleotide variant (non-coding transcript variant +1 more) | Persistent Mullerian duct syndrome | |
| | | Single nucleotide variant (nonsense) | Persistent Mullerian duct syndrome | |
| | | Single nucleotide variant (intron variant) | Persistent Mullerian duct syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Persistent Mullerian duct syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Persistent Mullerian duct syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Persistent Mullerian duct syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (frameshift variant) | Persistent mullerian duct syndrome, type II | |
| | | Deletion (inframe_deletion +1 more) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Persistent mullerian duct syndrome, type II | |
| | | Duplication (nonsense) | Persistent mullerian duct syndrome, type I | |
| | | Deletion (frameshift variant) | Persistent mullerian duct syndrome, type I | |
| | | Single nucleotide variant (nonsense) | Persistent mullerian duct syndrome, type I | |
| | | Single nucleotide variant (missense variant) | Vitamin D-dependent rickets type II with alopecia | |