ClinVar Miner

List of variants reported as pathogenic for ectodermal dysplasia syndrome by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000400.4(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026 0.00009
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) rs587780784 0.00001
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) rs121913530 0.00001
NM_000400.4(ERCC2):c.1017_1018insTC (p.Val340fs)
NM_001085458.2(CTNND1):c.1381C>T (p.Arg461Ter)
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs) rs782178147
NM_001399.5(EDA):c.64_71dup (p.Cys25fs)
NM_001399.5(EDA):c.99_100dup (p.Ala34fs)
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter) rs1566528185
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln) rs121913364
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter) rs606231272
NM_020779.4(WDR35):c.1137del (p.Thr380fs)
NM_030662.4(MAP2K2):c.169T>C (p.Phe57Leu) rs121434498
NM_147127.5(EVC2):c.1739del (p.Phe580fs)
NM_147127.5(EVC2):c.2335G>T (p.Glu779Ter)

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