ClinVar Miner

List of variants in gene EVC studied for EVC-related disorder

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.532G>A (p.Val178Ile) rs144897690 0.00243
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085 0.00196
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_153717.3(EVC):c.93C>G (p.Ala31=) rs866226288 0.00194
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00176
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023 0.00150
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) rs35926225 0.00150
NM_153717.3(EVC):c.1040C>T (p.Thr347Met) rs34947207 0.00127
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_153717.3(EVC):c.1770C>T (p.Asp590=) rs141755737 0.00075
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp) rs571637567 0.00038
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994 0.00038
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972 0.00025
NM_153717.3(EVC):c.2519C>T (p.Thr840Met) rs143464806 0.00024
NM_153717.3(EVC):c.442T>C (p.Leu148=) rs139931919 0.00022
NM_153717.3(EVC):c.1659G>C (p.Glu553Asp) rs150425919 0.00014
NM_153717.3(EVC):c.2098-10T>C rs774109576 0.00014
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016 0.00014
NM_153717.3(EVC):c.175-10C>T rs113406354 0.00013
NM_153717.3(EVC):c.1707G>C (p.Leu569=) rs575586341 0.00011
NM_153717.3(EVC):c.2126G>A (p.Arg709Gln) rs752020764 0.00009
NM_153717.3(EVC):c.107C>G (p.Ala36Gly) rs1219807707 0.00005
NM_153717.3(EVC):c.717T>A (p.Ile239=) rs372312182 0.00004
NM_153717.3(EVC):c.70G>T (p.Ala24Ser) rs1449662223 0.00003
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642 0.00002
NM_153717.3(EVC):c.1872C>T (p.Gly624=) rs374432399 0.00002
NM_153717.3(EVC):c.1481T>C (p.Leu494Pro) rs2475512478 0.00001
NM_153717.3(EVC):c.162C>T (p.Arg54=) rs1305323625 0.00001
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) rs1446547358 0.00001
NM_153717.3(EVC):c.2376G>A (p.Ala792=) rs1005244629 0.00001
NM_153717.3(EVC):c.2783-3C>A rs777914346 0.00001
NM_153717.3(EVC):c.367A>G (p.Ile123Val) rs772569904 0.00001
NM_153717.3(EVC):c.853A>G (p.Met285Val) rs1464387798 0.00001
NM_153717.3(EVC):c.876G>A (p.Glu292=) rs902304992 0.00001
NM_153717.3(EVC):c.*3T>G rs368249789
NM_153717.3(EVC):c.1102G>C (p.Ala368Pro) rs145645536
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4]) rs1164121689
NM_153717.3(EVC):c.1168C>T (p.Gln390Ter) rs1560340266
NM_153717.3(EVC):c.1198A>G (p.Ile400Val)
NM_153717.3(EVC):c.1219C>T (p.Leu407=) rs2475383630
NM_153717.3(EVC):c.1269_1278del (p.Gln424fs) rs2475385732
NM_153717.3(EVC):c.1493G>T (p.Arg498Met) rs1577453796
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.3(EVC):c.1776+4C>T rs761724907
NM_153717.3(EVC):c.1887-5_1904del rs779275317
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln) rs35401386
NM_153717.3(EVC):c.384+5G>C rs1553865348
NM_153717.3(EVC):c.618-2A>G rs1443064804
NM_153717.3(EVC):c.860G>T (p.Gly287Val) rs2475059474
NM_153717.3(EVC):c.939T>A (p.Asn313Lys) rs764394644
NM_153717.3(EVC):c.940-150T>G rs576076928

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