ClinVar Miner

List of variants in gene EVC studied for not provided

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Gene type:
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Total variants: 101
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HGVS dbSNP
GRCh37/hg19 4p16.2(chr4:5731073-5762301)x3
GRCh37/hg19 4p16.2(chr4:5731518-5778783)x1
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425
NM_153717.3(EVC):c.1034_1035CT[1] (p.Leu346fs) rs767913372
NM_153717.3(EVC):c.1041G>A (p.Thr347=) rs148418233
NM_153717.3(EVC):c.1082A>G (p.Gln361Arg) rs886043999
NM_153717.3(EVC):c.1093G>A (p.Ala365Thr)
NM_153717.3(EVC):c.1098+123A>G
NM_153717.3(EVC):c.1099-167G>C
NM_153717.3(EVC):c.1099-208C>A
NM_153717.3(EVC):c.1099-208C>T
NM_153717.3(EVC):c.1102G>A (p.Ala368Thr) rs145645536
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134
NM_153717.3(EVC):c.1203C>T (p.Ser401=)
NM_153717.3(EVC):c.1247G>A (p.Arg416Gln) rs745640537
NM_153717.3(EVC):c.1315+271C>T
NM_153717.3(EVC):c.1315+7C>T rs1252318929
NM_153717.3(EVC):c.1315+8G>A rs550411377
NM_153717.3(EVC):c.1316-139G>C
NM_153717.3(EVC):c.1316-220G>A
NM_153717.3(EVC):c.1349C>T (p.Ala450Val) rs749008952
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946
NM_153717.3(EVC):c.1416del (p.Phe473fs) rs768485560
NM_153717.3(EVC):c.1464+177T>A
NM_153717.3(EVC):c.1464+236G>T
NM_153717.3(EVC):c.1465-285A>G
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1540G>A (p.Glu514Lys) rs141896077
NM_153717.3(EVC):c.1563+185A>G
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu) rs371682994
NM_153717.3(EVC):c.1653G>A (p.Pro551=) rs151293705
NM_153717.3(EVC):c.172C>T (p.Gln58Ter) rs1057517899
NM_153717.3(EVC):c.174+238T>A
NM_153717.3(EVC):c.1744C>G (p.Leu582Val) rs367863826
NM_153717.3(EVC):c.1770C>T (p.Asp590=) rs141755737
NM_153717.3(EVC):c.1776+206C>G
NM_153717.3(EVC):c.1807G>A (p.Val603Met) rs886042994
NM_153717.3(EVC):c.1818A>C (p.Thr606=) rs202093497
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557
NM_153717.3(EVC):c.1851C>G (p.Arg617=) rs967986192
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777
NM_153717.3(EVC):c.1886+172C>A
NM_153717.3(EVC):c.1886+202G>C
NM_153717.3(EVC):c.1886+253C>T
NM_153717.3(EVC):c.1886+266G>A
NM_153717.3(EVC):c.1886+5G>T rs794726665
NM_153717.3(EVC):c.1887-122G>A
NM_153717.3(EVC):c.1892C>T (p.Thr631Met) rs139481521
NM_153717.3(EVC):c.1907A>G (p.Gln636Arg)
NM_153717.3(EVC):c.1928G>A (p.Arg643His) rs144906677
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln) rs35401386
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr) rs149344570
NM_153717.3(EVC):c.2097+111A>C
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.2304+2T>C rs1553892090
NM_153717.3(EVC):c.2305-58G>A
NM_153717.3(EVC):c.2305-6C>T rs781705295
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) rs149537641
NM_153717.3(EVC):c.2449+10C>A rs758387379
NM_153717.3(EVC):c.2449+317A>T
NM_153717.3(EVC):c.2449+4C>T rs753679138
NM_153717.3(EVC):c.2457G>A (p.Arg819=)
NM_153717.3(EVC):c.2504C>A (p.Ser835Ter) rs1560439043
NM_153717.3(EVC):c.252del (p.Arg85fs) rs1560274387
NM_153717.3(EVC):c.2561+144G>T
NM_153717.3(EVC):c.2561+221A>G
NM_153717.3(EVC):c.2782+103C>T
NM_153717.3(EVC):c.2782+145G>T
NM_153717.3(EVC):c.2782+173G>T
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547
NM_153717.3(EVC):c.2894+248A>T
NM_153717.3(EVC):c.2895-114A>G
NM_153717.3(EVC):c.2895-16_2895-13del rs773917688
NM_153717.3(EVC):c.2895-249T>C
NM_153717.3(EVC):c.2897_2918dup (p.Ser974fs) rs1560450412
NM_153717.3(EVC):c.300+213C>T
NM_153717.3(EVC):c.301-80G>A
NM_153717.3(EVC):c.385-170T>A
NM_153717.3(EVC):c.409C>A (p.Pro137Thr) rs752906200
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549
NM_153717.3(EVC):c.569G>T (p.Arg190Leu) rs113002470
NM_153717.3(EVC):c.57C>T (p.Asp19=)
NM_153717.3(EVC):c.625G>A (p.Val209Ile) rs202026284
NM_153717.3(EVC):c.698A>G (p.His233Arg)
NM_153717.3(EVC):c.769_772delinsTTAC (p.Tyr258His) rs1553871815
NM_153717.3(EVC):c.770T>A (p.Leu257Gln) rs750565190
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555
NM_153717.3(EVC):c.802-15_802-9delinsT
NM_153717.3(EVC):c.802-17TTC[3] rs370315662
NM_153717.3(EVC):c.802-311T>C
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655
NM_153717.3(EVC):c.901_903AAG[1] (p.Lys302del) rs755381180
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726
NM_153717.3(EVC):c.939+224C>T
NM_153717.3(EVC):c.939+50G>A
NM_153717.3(EVC):c.93C>G (p.Ala31=) rs866226288

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