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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMHR2
(R406Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
AMHR2
(E199fs)
Deletion
(frameshift variant)
Persistent mullerian duct syndrome, type II
GPathogenic
AMHR2
Deletion
(inframe_deletion +1 more)
Persistent Mullerian duct syndrome
+1 more
GPathogenic
AMHR2
Single nucleotide variant
(splice donor variant)
Persistent mullerian duct syndrome, type II
GPathogenic
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