List of variants studied for hereditary epidermal appendage anomaly by GenomeConnect - Invitae Patient Insights Network

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Total variants: 11

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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_001082486.2(ACD):c.22G>A (p.Val8Ile)	rs149365469	0.00053
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)	rs148147581	0.00026
NM_002582.4(PARN):c.1785T>G (p.Asp595Glu)	rs200434143	0.00021
NM_198253.3(TERT):c.3268G>A (p.Val1090Met)	rs121918664	0.00009
NM_001399.5(EDA):c.1094T>C (p.Val365Ala)	rs397516654	0.00003
NM_004415.4(DSP):c.2858T>C (p.Leu953Pro)	rs745641212	0.00001
NM_001166114.2(PNPLA6):c.555G>T (p.Arg185=)	rs1329932060
NM_004360.5(CDH1):c.1015C>G (p.Pro339Ala)	rs1555515709
NM_018648.4(NOP10):c.122_135delinsCACC (p.Tyr41fs)	rs1595604667

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