ClinVar Miner

List of variants reported as pathogenic for hereditary epidermal appendage anomaly by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (217):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 39
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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.240C>T rs749667892 0.00015
NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter) rs201663789 0.00012
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NM_004278.4(PIGL):c.427-1G>A rs770084126 0.00004
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 0.00002
NM_000526.5(KRT14):c.19C>T (p.Gln7Ter) rs267607391 0.00001
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415 0.00001
NM_001399.5(EDA):c.1013C>T (p.Thr338Met) rs132630321 0.00001
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723 0.00001
NM_001085458.2(CTNND1):c.1381C>T (p.Arg461Ter)
NM_001085458.2(CTNND1):c.2550+1G>A
NM_001283009.2(RTEL1):c.1702A>T (p.Lys568Ter)
NM_001283009.2(RTEL1):c.178C>T (p.Arg60Ter)
NM_001399.5(EDA):c.167T>C (p.Leu56Pro)
NM_001399.5(EDA):c.457C>T (p.Arg153Cys) rs397516662
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) rs121913348
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004415.4(DSP):c.8077_8080del (p.Lys2693fs) rs879254352
NM_014112.5(TRPS1):c.2927_2931del (p.Leu976fs) rs2129751330
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter) rs2130531352
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys) rs1178702025
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His) rs267607042
NM_015559.3(SETBP1):c.2608G>T (p.Gly870Cys)
NM_015559.3(SETBP1):c.2609G>A (p.Gly870Asp) rs267607039
NM_033360.4(KRAS):c.178G>A (p.Gly60Ser) rs104894359
NM_147127.5(EVC2):c.3805G>T (p.Gly1269Ter) rs1560121645
NM_198253.3(TERT):c.2147C>T (p.Ala716Val) rs199422298
NR_003051.3(RMRP):n.-5_-4insAACTACTCTGTGAAGCTGA
NR_003051.4(RMRP):n.94dup rs2131808768

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