List of variants reported as likely pathogenic for hereditary epidermal appendage anomaly by Sema4, Sema4

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly)	rs199473678	0.00007
NM_025099.6(CTC1):c.2758+1G>T	rs200609323	0.00002
NM_025099.6(CTC1):c.2386-1G>A	rs199861310	0.00001
NM_025099.6(CTC1):c.1120G>T (p.Glu374Ter)	rs1987674659

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