ClinVar Miner

List of variants studied for hereditary epidermal appendage anomaly by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (216):
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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp) rs117498128 0.00693
NM_004278.4(PIGL):c.424C>A (p.Leu142Met) rs115958467 0.00486
NM_004278.4(PIGL):c.526+10G>A rs138410893 0.00121
NM_004278.4(PIGL):c.337G>T (p.Asp113Tyr) rs114670807 0.00083
NM_015559.3(SETBP1):c.1932C>T (p.Ser644=) rs3744824 0.00067
NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=) rs574196735 0.00066
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_015559.3(SETBP1):c.46G>A (p.Glu16Lys) rs587784381 0.00016
NM_004278.4(PIGL):c.439G>A (p.Asp147Asn) rs148238492 0.00015
NM_004278.4(PIGL):c.493A>C (p.Arg165=) rs184077858 0.00014
NM_004278.4(PIGL):c.595T>C (p.Leu199=) rs114176862 0.00014
NM_004278.4(PIGL):c.354A>G (p.Pro118=) rs149094276 0.00010
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_004278.4(PIGL):c.4G>A (p.Glu2Lys) rs150000731 0.00008
NM_004278.4(PIGL):c.627C>T (p.Phe209=) rs146164310 0.00008
NM_015559.3(SETBP1):c.1223C>G (p.Ala408Gly) rs587784380 0.00004
NM_015559.3(SETBP1):c.1503C>T (p.Pro501=) rs374300895 0.00004
NM_004278.4(PIGL):c.426+14T>C rs138467285 0.00003
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) rs962041031 0.00001
NM_004278.4(PIGL):c.30G>T (p.Ala10=) rs147669920 0.00001
NM_004278.4(PIGL):c.480G>A (p.Leu160=) rs114697377 0.00001
NM_004278.4(PIGL):c.534T>C (p.Ser178=) rs114145762 0.00001
NM_004278.4(PIGL):c.535G>A (p.Val179Met) rs116591352 0.00001
NM_004278.4(PIGL):c.540C>T (p.Leu180=) rs115695383 0.00001
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.226C>A (p.Arg76Ser) rs267606845
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_001283009.2(RTEL1):c.49C>T (p.Pro17Ser) rs1555899096
NM_001363.5(DKC1):c.1255T>A (p.Tyr419Asn) rs1557265435
NM_002582.4(PARN):c.1257dup (p.Asn420Ter) rs942538351
NM_002582.4(PARN):c.24del (p.Phe8fs) rs1555512179
NM_004278.4(PIGL):c.169T>C (p.Phe57Leu) rs587784324
NM_004278.4(PIGL):c.426+8G>A rs145914582
NM_004278.4(PIGL):c.652C>G (p.Gln218Glu) rs139004722
NM_015559.3(SETBP1):c.1821del (p.Ser608fs) rs797045952
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His) rs267607042
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) rs267607040
NM_015559.3(SETBP1):c.3825A>C (p.Ser1275=) rs8096662
NM_015559.3(SETBP1):c.3825A>T (p.Ser1275=) rs8096662
NM_198253.3(TERT):c.1990G>C (p.Val664Leu) rs797046042
NM_198253.3(TERT):c.2011C>G (p.Arg671Gly) rs1060503011
NM_198253.3(TERT):c.2058C>G (p.Ile686Met) rs745590324
NR_001566.3(TERC):n.306T>G rs1553915591
NR_001566.3(TERC):n.443C>A rs1553915577

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