List of variants studied for hereditary epidermal appendage anomaly by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)	rs121908120	0.01450
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)	rs121908119	0.00087
NM_000400.4(ERCC2):c.1972C>T (p.Arg658Cys)	rs121913021	0.00004
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr)	rs372993798	0.00004
NM_001323.4(CST6):c.62C>T (p.Ala21Val)	rs753288221	0.00002
NM_001399.5(EDA):c.463C>T (p.Arg155Cys)	rs132630312	0.00002
NM_000400.4(ERCC2):c.1984C>T (p.Gln662Ter)	rs778479250	0.00001
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser)	rs267606845
NM_001399.5(EDA):c.2T>C (p.Met1Thr)	rs397516659
NM_001399.5(EDA):c.706+1G>A	rs886039344
NM_001399.5(EDA):c.769G>A (p.Gly257Arg)
NM_001399.5(EDA):c.798T>C (p.Leu266=)	rs2147516257
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr)	rs121913527
NM_014112.5(TRPS1):c.2756T>C (p.Leu919Pro)	rs1554617573
NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter)	rs121908452
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)	rs121908453

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