ClinVar Miner

List of variants reported as pathogenic for Ellis-van Creveld syndrome; Curry-Hall syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
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.2731C>T (p.Arg911Ter) rs767400887 0.00003
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033 0.00002
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs) rs772840335 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616 0.00001
NM_147127.5(EVC2):c.273dup (p.Lys92Ter) rs2151739536
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs) rs767913372
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) rs779915989
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417

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