"OMIM"[submitter] AND "HOXC13-AS"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 39782	NM_017410.2(HOXC13):c.-24497_736+2389del	HOXC13, HOXC13-AS	Deletion	Ectodermal dysplasia 9, hair/nail type	GPathogenic
Select item 50641	NM_017410.3(HOXC13):c.355del (p.Leu119fs)	HOXC13, HOXC13-AS (L119fs)	Deletion (frameshift variant)	Ectodermal dysplasia 9, hair/nail type	GPathogenic
Select item 39781	NM_017410.3(HOXC13):c.390C>A (p.Tyr130Ter)	HOXC13, HOXC13-AS (Y130*)	Single nucleotide variant (nonsense)	Ectodermal dysplasia 9, hair/nail type	GPathogenic

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