List of variants reported as pathogenic for hereditary epidermal appendage anomaly by Genetic Services Laboratory, University of Chicago

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)	rs145303331	0.00062
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)	rs373740199	0.00009
NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn)	rs267607042	0.00001
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)	rs267607038	0.00001
NM_000165.5(GJA1):c.119C>T (p.Ala40Val)	rs1554200992
NM_000165.5(GJA1):c.646G>T (p.Val216Leu)	rs1554201043
NM_001099274.3(TINF2):c.845G>A (p.Arg282His)	rs121918544
NM_001283009.2(RTEL1):c.1135+1G>A	rs1555903332
NM_001283009.2(RTEL1):c.3370del (p.His1124fs)	rs1555814400
NM_002582.4(PARN):c.1257dup (p.Asn420Ter)	rs942538351
NM_002582.4(PARN):c.24del (p.Phe8fs)	rs1555512179
NM_015559.3(SETBP1):c.1821del (p.Ser608fs)	rs797045952
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)	rs267607040

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