ClinVar Miner

List of variants reported as pathogenic for hereditary epidermal appendage anomaly by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (217):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01450
NR_003051.4(RMRP):n.72A>G rs199476103 0.00156
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NR_003051.4(RMRP):n.6C>T rs772443941 0.00016
NR_003051.4(RMRP):n.244A>G rs551450545 0.00010
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter) rs138329739 0.00009
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_000400.4(ERCC2):c.1867dup (p.Val623fs) rs756630156 0.00005
NR_003051.3(RMRP):n.64C>T rs786204684 0.00004
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_025216.3(WNT10A):c.376+1G>A rs561503117 0.00002
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) rs376133710 0.00002
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033 0.00002
NM_001399.5(EDA):c.866G>A (p.Arg289His) rs876657641 0.00001
NM_024589.3(ROGDI):c.469C>T (p.Arg157Ter) rs387907146 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro) rs1373632260 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NR_003051.4(RMRP):n.195G>A rs761398394 0.00001
NC_000009.12:g.35657872C>T rs753874439
NC_000009.12:g.35658021_35658034dup rs1554651373
NC_000009.12:g.35658032_35658041dup rs1554651524
NC_000009.12:g.35658036_35658042dup rs1554651543
NC_000023.11:g.70027902_70027919del rs397516668
NM_001099857.5(IKBKG):c.519-3_519dup rs1557236445
NM_001099857.5(IKBKG):c.706C>T (p.Gln236Ter) rs2071133474
NM_001283009.2(RTEL1):c.102+2T>C rs1555899111
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu) rs1470145133
NM_001399.5(EDA):c.457C>T (p.Arg153Cys) rs397516662
NM_001399.5(EDA):c.659_676del (p.217_219PGP[1]) rs876657686
NM_001399.5(EDA):c.871G>A (p.Gly291Arg) rs397516677
NM_001814.6(CTSC):c.-55C>A
NM_001814.6(CTSC):c.503A>G (p.Tyr168Cys)
NM_001814.6(CTSC):c.587T>C (p.Leu196Pro)
NM_001814.6(CTSC):c.748C>T (p.Arg250Ter)
NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser) rs121908594
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) rs794729219
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu) rs121913341
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.730A>C (p.Thr244Pro) rs397507465
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) rs121912997
NM_004415.4(DSP):c.7623del (p.Lys2542fs) rs397514039
NM_052989.3(IFT122):c.3013C>T (p.Gln1005Ter)
NM_147127.5(EVC2):c.1330C>T (p.Gln444Ter) rs372215987
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs) rs992326794
NM_147127.5(EVC2):c.2944_2945del (p.Leu982fs)
NM_147127.5(EVC2):c.534dup (p.Glu179Ter) rs1553851462
NM_153717.3(EVC):c.203del (p.Asn68fs) rs1560274093
NM_153717.3(EVC):c.922_923del (p.Glu308fs) rs1729200967
NR_003051.3(RMRP):n.-24_-4dup rs1563907883
NR_003051.3(RMRP):n.-7_1dup8 rs752934195
NR_003051.4(RMRP):n.-18_-2dup rs727502778
NR_003051.4(RMRP):n.-21_-2dup rs1554651411
NR_003051.4(RMRP):n.182G>A rs1004469515
NR_003051.4(RMRP):n.197C>T rs948931144
NR_003051.4(RMRP):n.220A>G rs936059863

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