ClinVar Miner

List of variants in gene EVC reported as likely benign for Ellis-van Creveld syndrome

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Gene type:
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Total variants: 27
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HGVS dbSNP
NM_153717.3(EVC):c.*1314G>A
NM_153717.3(EVC):c.*1439C>T rs188270163
NM_153717.3(EVC):c.*1976C>T
NM_153717.3(EVC):c.*2125T>G rs139771274
NM_153717.3(EVC):c.*2126T>G rs191415414
NM_153717.3(EVC):c.*2310G>A rs539844915
NM_153717.3(EVC):c.*2493A>G rs188345323
NM_153717.3(EVC):c.*2692G>T
NM_153717.3(EVC):c.*491C>T
NM_153717.3(EVC):c.*492G>A rs530991301
NM_153717.3(EVC):c.*994C>T
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946
NM_153717.3(EVC):c.1464+20T>C rs886038740
NM_153717.3(EVC):c.1564-6C>T rs188245524
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502

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