"OMIM"[submitter] AND "MNS1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 973691	NM_018365.4(MNS1):c.724C>T (p.Arg242Ter)	MNS1, TEX9 (R242*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 635005	NM_018365.4(MNS1):c.407_410del (p.Glu136fs)	MNS1, TEX9 (E136fs)	Microsatellite (frameshift variant)	Situs inversus	GLikely pathogenic

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