ClinVar Miner

List of variants in gene EVC reported as uncertain significance for Curry-Hall syndrome

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Gene type:
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Total variants: 45
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HGVS dbSNP
NM_153717.3(EVC):c.*104G>A rs753484436
NM_153717.3(EVC):c.*1069A>G rs13147953
NM_153717.3(EVC):c.*1176C>A rs13121710
NM_153717.3(EVC):c.*1395C>T rs886059513
NM_153717.3(EVC):c.*1403C>T rs547015924
NM_153717.3(EVC):c.*1568C>T rs886059514
NM_153717.3(EVC):c.*1684A>G rs886059515
NM_153717.3(EVC):c.*1981A>G rs886059516
NM_153717.3(EVC):c.*2349T>C rs886059517
NM_153717.3(EVC):c.*2490C>T rs145238482
NM_153717.3(EVC):c.*263T>C rs575488876
NM_153717.3(EVC):c.*274C>G rs758225073
NM_153717.3(EVC):c.*2922A>C rs886059518
NM_153717.3(EVC):c.*3161A>C rs550678702
NM_153717.3(EVC):c.*3170T>C rs886059519
NM_153717.3(EVC):c.*367C>T rs886059510
NM_153717.3(EVC):c.*662G>A rs866110948
NM_153717.3(EVC):c.*704_*705insTT rs886059511
NM_153717.3(EVC):c.*869A>G rs79612644
NM_153717.3(EVC):c.*877C>T rs886059512
NM_153717.3(EVC):c.*907C>T rs71599839
NM_153717.3(EVC):c.-138_-137GA[1] rs886059494
NM_153717.3(EVC):c.-139G>A rs779841092
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003
NM_153717.3(EVC):c.1145T>C (p.Ile382Thr) rs886059505
NM_153717.3(EVC):c.1258G>A (p.Glu420Lys) rs373502728
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly) rs764556070
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly) rs370721640
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser) rs777024713
NM_153717.3(EVC):c.1878C>T (p.Leu626=) rs375743004
NM_153717.3(EVC):c.2102C>T (p.Ala701Val) rs571809727
NM_153717.3(EVC):c.2104C>T (p.Arg702Cys) rs545087909
NM_153717.3(EVC):c.2305-5C>G rs760071065
NM_153717.3(EVC):c.2391C>T (p.Ile797=) rs202236029
NM_153717.3(EVC):c.2415G>T (p.Glu805Asp) rs886059506
NM_153717.3(EVC):c.2449+8del rs886059507
NM_153717.3(EVC):c.248C>T (p.Ser83Leu) rs886059495
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe) rs370825749
NM_153717.3(EVC):c.2752A>G (p.Lys918Glu) rs780968816
NM_153717.3(EVC):c.2894+13C>T rs886059508
NM_153717.3(EVC):c.2961G>A (p.Lys987=) rs138808610
NM_153717.3(EVC):c.388C>T (p.Leu130=) rs886059496
NM_153717.3(EVC):c.409C>A (p.Pro137Thr) rs752906200
NM_153717.3(EVC):c.802-12C>T rs61514191
NM_153717.3(EVC):c.920C>G (p.Ser307Cys) rs372548610

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