ClinVar Miner

List of variants studied for ectodermal dysplasia syndrome by University of Washington Center for Mendelian Genomics, University of Washington

Included ClinVar conditions (215):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter) rs765269619 0.00003
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323 0.00001
NM_001142730.3(KCTD1):c.1882C>T (p.Pro628Ser) rs878853125
NM_001142730.3(KCTD1):c.1913C>A (p.Ala638Glu) rs587776998
NM_001142730.3(KCTD1):c.1916C>A (p.Pro639His) rs587776999
NM_001142730.3(KCTD1):c.1916C>G (p.Pro639Arg) rs587776999
NM_001142730.3(KCTD1):c.1916C>T (p.Pro639Leu) rs587776999
NM_001142730.3(KCTD1):c.1922A>C (p.His641Pro) rs587777001
NM_001142730.3(KCTD1):c.1923C>A (p.His641Gln) rs587777000
NM_001142730.3(KCTD1):c.2009G>A (p.Gly670Asp) rs587777003
NM_001142730.3(KCTD1):c.2031C>A (p.Asp677Glu) rs878853124
NM_001142730.3(KCTD1):c.2045A>C (p.His682Pro) rs587777002
NM_004360.5(CDH1):c.1198G>A (p.Asp400Asn) rs1960893142
NM_004360.5(CDH1):c.779C>T (p.Pro260Leu) rs1960783816

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