ClinVar Miner

List of variants in gene EVC2, LOC126806961 studied for Ellis-van Creveld syndrome; Curry-Hall syndrome

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Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.1437A>G (p.Glu479=) rs13131655 0.27893
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01151
NM_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452 0.00844
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala) rs138972736 0.00617
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810 0.00334
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser) rs145277501 0.00205
NM_147127.5(EVC2):c.1287T>C (p.Ser429=) rs148775651 0.00059
NM_147127.5(EVC2):c.1452G>A (p.Leu484=) rs137884710 0.00046
NM_147127.5(EVC2):c.1470+20A>G rs375025494 0.00034
NM_147127.5(EVC2):c.1208G>A (p.Ser403Asn) rs202093384 0.00033
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=) rs186349183 0.00021
NM_147127.5(EVC2):c.1146-18G>T rs200471657 0.00012
NM_147127.5(EVC2):c.1456C>T (p.Arg486Cys) rs780919705 0.00008
NM_147127.5(EVC2):c.1470+3A>T rs370769794 0.00007
NM_147127.5(EVC2):c.1214A>G (p.Asp405Gly) rs375543647 0.00006
NM_147127.5(EVC2):c.1345C>T (p.Arg449Trp) rs778943940 0.00006
NM_147127.5(EVC2):c.1146-11G>A rs201001339 0.00005
NM_147127.5(EVC2):c.1168C>T (p.Arg390Trp) rs199826018 0.00005
NM_147127.5(EVC2):c.1169G>A (p.Arg390Gln) rs367655073 0.00005
NM_147127.5(EVC2):c.1399G>A (p.Glu467Lys) rs377461598 0.00005
NM_147127.5(EVC2):c.1146-5C>G rs746188195 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00003
NM_147127.5(EVC2):c.1196G>A (p.Arg399Gln) rs866938723 0.00003
NM_147127.5(EVC2):c.1371A>C (p.Glu457Asp) rs368371226 0.00003
NM_147127.5(EVC2):c.1154T>C (p.Ile385Thr) rs780517206 0.00002
NM_147127.5(EVC2):c.1319A>T (p.Glu440Val) rs1027714239 0.00002
NM_147127.5(EVC2):c.1146-19T>C rs2475439593 0.00001
NM_147127.5(EVC2):c.1146-9G>T rs774847750 0.00001
NM_147127.5(EVC2):c.1163del (p.Leu388fs) rs1159674022 0.00001
NM_147127.5(EVC2):c.1166A>G (p.Asn389Ser) rs1717277779 0.00001
NM_147127.5(EVC2):c.1303C>T (p.Gln435Ter) rs1369020144 0.00001
NM_147127.5(EVC2):c.1328T>C (p.Ile443Thr) rs1459733035 0.00001
NM_147127.5(EVC2):c.1332A>G (p.Gln444=) rs773290242 0.00001
NM_147127.5(EVC2):c.1380G>C (p.Leu460=) rs1438407396 0.00001
NM_147127.5(EVC2):c.1383A>G (p.Glu461=) rs1389702193 0.00001
NM_147127.5(EVC2):c.1386A>G (p.Thr462=) rs967526397 0.00001
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs) rs772840335 0.00001
NM_147127.5(EVC2):c.1392G>A (p.Lys464=) rs1362654881 0.00001
NM_147127.5(EVC2):c.1395G>A (p.Lys465=) rs1717252865 0.00001
NM_147127.5(EVC2):c.1427C>T (p.Ala476Val) rs774347118 0.00001
NM_147127.5(EVC2):c.1440A>G (p.Ala480=) rs779955202 0.00001
NM_147127.5(EVC2):c.1450C>T (p.Leu484=) rs1246227028 0.00001
NM_147127.5(EVC2):c.1455A>G (p.Lys485=) rs1371814417 0.00001
NM_147127.5(EVC2):c.1470+12C>G rs1717243211 0.00001
NM_147127.5(EVC2):c.1470+8A>G rs761155878 0.00001
NM_147127.5(EVC2):c.1146-11G>T rs201001339
NM_147127.5(EVC2):c.1146-12dup rs1560188150
NM_147127.5(EVC2):c.1146-19T>G rs2475439593
NM_147127.5(EVC2):c.1146-2A>T rs1717279590
NM_147127.5(EVC2):c.1146-5C>T rs746188195
NM_147127.5(EVC2):c.1146-9G>C rs774847750
NM_147127.5(EVC2):c.1152G>A (p.Glu384=) rs2475439439
NM_147127.5(EVC2):c.1159A>G (p.Thr387Ala) rs1206648663
NM_147127.5(EVC2):c.1161C>G (p.Thr387=) rs1717278166
NM_147127.5(EVC2):c.1170G>A (p.Arg390=) rs2475439275
NM_147127.5(EVC2):c.1171G>T (p.Ala391Ser)
NM_147127.5(EVC2):c.1172C>T (p.Ala391Val) rs1368934888
NM_147127.5(EVC2):c.1173A>C (p.Ala391=) rs1276908557
NM_147127.5(EVC2):c.1176T>C (p.Asp392=) rs1577195366
NM_147127.5(EVC2):c.1184T>A (p.Leu395Gln)
NM_147127.5(EVC2):c.1186G>A (p.Glu396Lys) rs2108864342
NM_147127.5(EVC2):c.1195C>G (p.Arg399Gly)
NM_147127.5(EVC2):c.1197A>C (p.Arg399=) rs2475439073
NM_147127.5(EVC2):c.1204A>G (p.Ile402Val)
NM_147127.5(EVC2):c.1206C>A (p.Ile402=) rs1484497216
NM_147127.5(EVC2):c.1206C>T (p.Ile402=) rs1484497216
NM_147127.5(EVC2):c.1209C>A (p.Ser403Arg) rs772660326
NM_147127.5(EVC2):c.1209C>T (p.Ser403=) rs772660326
NM_147127.5(EVC2):c.1212G>A (p.Lys404=) rs2475438956
NM_147127.5(EVC2):c.1215T>A (p.Asp405Glu) rs775859006
NM_147127.5(EVC2):c.1215T>C (p.Asp405=) rs775859006
NM_147127.5(EVC2):c.1218C>A (p.Ile406=) rs770207135
NM_147127.5(EVC2):c.1220T>C (p.Ile407Thr) rs1480693419
NM_147127.5(EVC2):c.1228C>G (p.Leu410Val) rs2475438828
NM_147127.5(EVC2):c.1230G>A (p.Leu410=) rs1302326375
NM_147127.5(EVC2):c.1230G>T (p.Leu410=) rs1302326375
NM_147127.5(EVC2):c.1239_1256del (p.Thr415_Leu420del)
NM_147127.5(EVC2):c.1245C>G (p.Thr415=) rs747208576
NM_147127.5(EVC2):c.1245C>T (p.Thr415=) rs747208576
NM_147127.5(EVC2):c.1245del (p.Ser416fs)
NM_147127.5(EVC2):c.1254C>T (p.Gly418=) rs2108864185
NM_147127.5(EVC2):c.1255dup (p.His419fs)
NM_147127.5(EVC2):c.1257C>T (p.His419=) rs1717268176
NM_147127.5(EVC2):c.1260C>G (p.Leu420=) rs150859940
NM_147127.5(EVC2):c.1260C>T (p.Leu420=) rs150859940
NM_147127.5(EVC2):c.1263A>T (p.Ser421=) rs1717267419
NM_147127.5(EVC2):c.1266C>T (p.Pro422=) rs1717267002
NM_147127.5(EVC2):c.1295T>C (p.Phe432Ser) rs1381375453
NM_147127.5(EVC2):c.1298A>G (p.Lys433Arg) rs2475438298
NM_147127.5(EVC2):c.1302G>A (p.Lys434=)
NM_147127.5(EVC2):c.1309C>T (p.Leu437=) rs1434202396
NM_147127.5(EVC2):c.1311A>C (p.Leu437=) rs77131452
NM_147127.5(EVC2):c.1315C>T (p.Leu439=) rs1717262044
NM_147127.5(EVC2):c.1317G>T (p.Leu439=) rs1717261865
NM_147127.5(EVC2):c.1327A>G (p.Ile443Val)
NM_147127.5(EVC2):c.1330C>T (p.Gln444Ter) rs372215987
NM_147127.5(EVC2):c.1332del (p.Glu445fs) rs2475438095
NM_147127.5(EVC2):c.1335G>A (p.Glu445=) rs2108863935
NM_147127.5(EVC2):c.1341C>G (p.Tyr447Ter) rs186349183
NM_147127.5(EVC2):c.1341_1342insT (p.Asp448Ter) rs1717259479
NM_147127.5(EVC2):c.1342G>A (p.Asp448Asn) rs748111872
NM_147127.5(EVC2):c.1351A>T (p.Met451Leu)
NM_147127.5(EVC2):c.1353G>A (p.Met451Ile)
NM_147127.5(EVC2):c.1359A>G (p.Ala453=) rs1478613738
NM_147127.5(EVC2):c.1359A>T (p.Ala453=) rs1478613738
NM_147127.5(EVC2):c.1360T>C (p.Leu454=) rs2108863865
NM_147127.5(EVC2):c.1362G>A (p.Leu454=)
NM_147127.5(EVC2):c.1371A>G (p.Glu457=) rs368371226
NM_147127.5(EVC2):c.1381G>A (p.Glu461Lys) rs2108863818
NM_147127.5(EVC2):c.1393A>G (p.Lys465Glu)
NM_147127.5(EVC2):c.1397T>C (p.Met466Thr)
NM_147127.5(EVC2):c.1401A>G (p.Glu467=) rs2475437434
NM_147127.5(EVC2):c.1402A>G (p.Asn468Asp)
NM_147127.5(EVC2):c.1410C>G (p.Tyr470Ter) rs2108863739
NM_147127.5(EVC2):c.1413G>A (p.Gln471=) rs2108863731
NM_147127.5(EVC2):c.1417G>C (p.Glu473Gln) rs2475437340
NM_147127.5(EVC2):c.1443A>G (p.Glu481=) rs2475437149
NM_147127.5(EVC2):c.1453_1459dup (p.Ala487fs) rs2475437040
NM_147127.5(EVC2):c.1456C>A (p.Arg486Ser) rs780919705
NM_147127.5(EVC2):c.1457G>A (p.Arg486His)
NM_147127.5(EVC2):c.1470+10G>A rs1198809289
NM_147127.5(EVC2):c.1470+11_1470+19del rs2475436806
NM_147127.5(EVC2):c.1470+1G>C rs1577194652
NM_147127.5(EVC2):c.1470+1dup rs1717244500
NM_147127.5(EVC2):c.1470+2T>C rs2475436920
NM_147127.5(EVC2):c.1470+6A>G rs1181688094
NM_147127.5(EVC2):c.1470+7C>T rs2475436873

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