ClinVar Miner

List of variants in gene C2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 322
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000063.6(C2):c.1023G>A (p.Ala341=) rs1042663 0.11857
NM_000063.6(C2):c.954G>C (p.Glu318Asp) rs9332739 0.03307
NM_000063.6(C2):c.2200C>T (p.Arg734Cys) rs4151648 0.00474
NM_000063.6(C2):c.443-16C>T rs9332718 0.00381
NM_000063.6(C2):c.443-4G>A rs9332719 0.00380
NM_000063.6(C2):c.46+16G>A rs538032432 0.00097
NM_000063.6(C2):c.2171C>T (p.Pro724Leu) rs145050210 0.00081
NM_000063.6(C2):c.614G>A (p.Arg205His) rs147186833 0.00048
NM_000063.6(C2):c.1324A>G (p.Thr442Ala) rs140133472 0.00047
NM_000063.6(C2):c.1413C>T (p.Asn471=) rs138221333 0.00041
NM_000063.6(C2):c.664A>G (p.Thr222Ala) rs141450429 0.00033
NM_000063.6(C2):c.850-7C>T rs151097610 0.00032
NM_000063.6(C2):c.929A>G (p.Asn310Ser) rs144201432 0.00031
NM_000063.6(C2):c.92C>T (p.Ser31Leu) rs200412106 0.00031
NM_000063.6(C2):c.1965C>T (p.Val655=) rs141487807 0.00029
NM_000063.6(C2):c.207G>A (p.Gln69=) rs376686530 0.00029
NM_000063.6(C2):c.73C>T (p.Pro25Ser) rs200095096 0.00029
NM_000063.6(C2):c.749C>G (p.Ser250Cys) rs150827255 0.00027
NM_000063.6(C2):c.1811-3T>C rs755869741 0.00026
NM_000063.6(C2):c.90C>A (p.Ile30=) rs561819885 0.00024
NM_000063.6(C2):c.218C>T (p.Pro73Leu) rs137902889 0.00020
NM_000063.6(C2):c.988+16C>T rs377748058 0.00020
NM_000063.6(C2):c.1911C>G (p.Ser637Arg) rs139381609 0.00019
NM_000063.6(C2):c.402C>T (p.Asn134=) rs147021965 0.00019
NM_000063.6(C2):c.1130-11C>T rs117576077 0.00017
NM_000063.6(C2):c.936C>G (p.Asn312Lys) rs532091149 0.00017
NM_000063.6(C2):c.1716G>C (p.Lys572Asn) rs376278843 0.00016
NM_000063.6(C2):c.1169A>C (p.Asp390Ala) rs142088624 0.00014
NM_000063.6(C2):c.1613C>T (p.Ala538Val) rs140194348 0.00014
NM_000063.6(C2):c.2030-16C>T rs750960528 0.00012
NM_000063.6(C2):c.1495G>A (p.Asp499Asn) rs149378221 0.00010
NM_000063.6(C2):c.930C>T (p.Asn310=) rs146165915 0.00010
NM_000063.6(C2):c.1902+5G>A rs201711512 0.00009
NM_000063.6(C2):c.2253C>T (p.Pro751=) rs771797450 0.00009
NM_000063.6(C2):c.309G>T (p.Arg103=) rs375685184 0.00009
NM_000063.6(C2):c.345C>T (p.Phe115=) rs138358319 0.00009
NM_000063.6(C2):c.1109C>T (p.Ala370Val) rs777200072 0.00007
NM_000063.6(C2):c.1811-18C>T rs746085842 0.00007
NM_000063.6(C2):c.980A>G (p.Asn327Ser) rs766665783 0.00007
NM_000063.6(C2):c.1588G>A (p.Gly530Ser) rs575285827 0.00006
NM_000063.6(C2):c.442+15T>G rs776839411 0.00006
NM_000063.6(C2):c.876C>T (p.Ser292=) rs367795640 0.00006
NM_000063.6(C2):c.1733+16G>C rs769198049 0.00005
NM_000063.6(C2):c.262C>T (p.Arg88Cys) rs140767210 0.00005
NM_000063.6(C2):c.386G>A (p.Arg129His) rs367996721 0.00005
NM_000063.6(C2):c.850-6G>A rs374809864 0.00005
NM_000063.6(C2):c.1360+1G>A rs140225293 0.00004
NM_000063.6(C2):c.1917C>T (p.Ala639=) rs766101098 0.00004
NM_000063.6(C2):c.1981G>A (p.Asp661Asn) rs374481091 0.00004
NM_000063.6(C2):c.245C>T (p.Ala82Val) rs547881286 0.00004
NM_000063.6(C2):c.324C>T (p.Pro108=) rs764977844 0.00004
NM_000063.6(C2):c.483G>A (p.Val161=) rs765581026 0.00004
NM_000063.6(C2):c.551C>T (p.Thr184Met) rs138034438 0.00004
NM_000063.6(C2):c.1478G>A (p.Arg493Gln) rs544657195 0.00003
NM_000063.6(C2):c.1733+19_1733+21del rs758355405 0.00003
NM_000063.6(C2):c.1902+3G>A rs1191010788 0.00003
NM_000063.6(C2):c.256+11C>T rs771148474 0.00003
NM_000063.6(C2):c.716-14C>T rs564350054 0.00003
NM_000063.6(C2):c.1233C>T (p.Ile411=) rs763692350 0.00002
NM_000063.6(C2):c.1455+19A>G rs750135610 0.00002
NM_000063.6(C2):c.1913G>A (p.Cys638Tyr) rs780258553 0.00002
NM_000063.6(C2):c.2029+5G>A rs774473503 0.00002
NM_000063.6(C2):c.2097G>C (p.Trp699Cys) rs754270238 0.00002
NM_000063.6(C2):c.526C>T (p.Arg176Cys) rs143664003 0.00002
NM_000063.6(C2):c.613C>T (p.Arg205Cys) rs770315100 0.00002
NM_000063.6(C2):c.1107T>C (p.His369=) rs553732141 0.00001
NM_000063.6(C2):c.1262G>A (p.Arg421Lys) rs756916740 0.00001
NM_000063.6(C2):c.1308C>G (p.Ala436=) rs774531849 0.00001
NM_000063.6(C2):c.1389C>T (p.Cys463=) rs777947112 0.00001
NM_000063.6(C2):c.1390G>A (p.Gly464Arg) rs151340617 0.00001
NM_000063.6(C2):c.1644C>T (p.Ala548=) rs1278626139 0.00001
NM_000063.6(C2):c.1734-13C>T rs1197757257 0.00001
NM_000063.6(C2):c.1748C>G (p.Pro583Arg) rs1478487784 0.00001
NM_000063.6(C2):c.1819C>G (p.Leu607Val) rs779777584 0.00001
NM_000063.6(C2):c.201C>T (p.Ser67=) rs757110747 0.00001
NM_000063.6(C2):c.2080-11C>G rs1562620771 0.00001
NM_000063.6(C2):c.2112C>T (p.Pro704=) rs532840122 0.00001
NM_000063.6(C2):c.2141G>A (p.Arg714His) rs745995611 0.00001
NM_000063.6(C2):c.2155C>T (p.Arg719Cys) rs551464241 0.00001
NM_000063.6(C2):c.2168C>T (p.Pro723Leu) rs749196268 0.00001
NM_000063.6(C2):c.2172G>A (p.Pro724=) rs370903470 0.00001
NM_000063.6(C2):c.2174C>T (p.Pro725Leu) rs760072899 0.00001
NM_000063.6(C2):c.229C>T (p.Arg77Trp) rs768231128 0.00001
NM_000063.6(C2):c.283T>G (p.Phe95Val) rs201023669 0.00001
NM_000063.6(C2):c.370C>T (p.Arg124Trp) rs200459401 0.00001
NM_000063.6(C2):c.371G>A (p.Arg124Gln) rs149324266 0.00001
NM_000063.6(C2):c.377C>T (p.Ser126Leu) rs749347217 0.00001
NM_000063.6(C2):c.446G>C (p.Gly149Ala) rs761340734 0.00001
NM_000063.6(C2):c.477C>T (p.Gly159=) rs955522624 0.00001
NM_000063.6(C2):c.520C>T (p.Arg174Cys) rs768293464 0.00001
NM_000063.6(C2):c.579C>A (p.Gly193=) rs757266578 0.00001
NM_000063.6(C2):c.582C>T (p.Asn194=) rs749217491 0.00001
NM_000063.6(C2):c.600G>A (p.Thr200=) rs1467528955 0.00001
NM_000063.6(C2):c.637C>A (p.Pro213Thr) rs148330562 0.00001
NM_000063.6(C2):c.716-19C>G rs545848135 0.00001
NM_000063.6(C2):c.798G>A (p.Ser266=) rs1324146336 0.00001
NM_000063.6(C2):c.819C>T (p.Phe273=) rs886360667 0.00001
NM_000063.6(C2):c.873G>T (p.Val291=) rs1040463991 0.00001
NM_000063.6(C2):c.931G>A (p.Asp311Asn) rs774981560 0.00001
NM_000063.6(C2):c.988+4C>T rs201677911 0.00001
NM_000063.6(C2):c.989-7A>G rs985348112 0.00001
NC_000006.11:g.(?_31895530)_(31905256_?)del
NM_000063.6(C2):c.1005T>G (p.Thr335=)
NM_000063.6(C2):c.1016C>A (p.Thr339Asn)
NM_000063.6(C2):c.1064G>A (p.Arg355Gln) rs145799939
NM_000063.6(C2):c.1068C>A (p.Leu356=)
NM_000063.6(C2):c.1071C>T (p.Leu357=)
NM_000063.6(C2):c.1102C>T (p.Arg368Ter) rs866130958
NM_000063.6(C2):c.1103G>C (p.Arg368Pro) rs761100503
NM_000063.6(C2):c.1105C>A (p.His369Asn) rs2151760714
NM_000063.6(C2):c.1122G>C (p.Leu374=)
NM_000063.6(C2):c.1127A>G (p.Asp376Gly)
NM_000063.6(C2):c.1129+13G>T
NM_000063.6(C2):c.1130-17T>C
NM_000063.6(C2):c.1130-9_1130-8del
NM_000063.6(C2):c.1139A>G (p.Asn380Ser)
NM_000063.6(C2):c.1154C>T (p.Pro385Leu)
NM_000063.6(C2):c.1155C>T (p.Pro385=)
NM_000063.6(C2):c.1187T>C (p.Leu396Pro)
NM_000063.6(C2):c.1201A>C (p.Lys401Gln) rs2151763697
NM_000063.6(C2):c.1215T>A (p.Tyr405Ter)
NM_000063.6(C2):c.1219+22_1219+24del
NM_000063.6(C2):c.1219+7C>T rs1554282202
NM_000063.6(C2):c.1221C>T (p.Asp407=)
NM_000063.6(C2):c.1239G>A (p.Val413=)
NM_000063.6(C2):c.1248G>C (p.Leu416=)
NM_000063.6(C2):c.1260G>A (p.Trp420Ter) rs1562613965
NM_000063.6(C2):c.1269G>C (p.Leu423=)
NM_000063.6(C2):c.1287G>A (p.Lys429=)
NM_000063.6(C2):c.1332T>G (p.Ala444=)
NM_000063.6(C2):c.1335G>A (p.Leu445=)
NM_000063.6(C2):c.1342G>C (p.Val448Leu)
NM_000063.6(C2):c.1360+3G>A rs2151770456
NM_000063.6(C2):c.1361-1G>T
NM_000063.6(C2):c.1361-4A>G
NM_000063.6(C2):c.1364T>C (p.Val455Ala)
NM_000063.6(C2):c.1398G>A (p.Gly466=)
NM_000063.6(C2):c.1417T>G (p.Ser473Ala) rs1005875822
NM_000063.6(C2):c.1433C>A (p.Thr478Lys)
NM_000063.6(C2):c.1442A>T (p.His481Leu)
NM_000063.6(C2):c.1455+15G>A
NM_000063.6(C2):c.1455+17del rs1178026720
NM_000063.6(C2):c.1456-10T>G
NM_000063.6(C2):c.1482G>T (p.Gly494=) rs1771060415
NM_000063.6(C2):c.1482_1483delinsC (p.Ala495fs) rs1582119130
NM_000063.6(C2):c.1484C>T (p.Ala495Val)
NM_000063.6(C2):c.1494C>T (p.Ser498=)
NM_000063.6(C2):c.1500A>G (p.Gln500=)
NM_000063.6(C2):c.1530C>A (p.Arg510=)
NM_000063.6(C2):c.1530C>T (p.Arg510=)
NM_000063.6(C2):c.1531G>A (p.Asp511Asn)
NM_000063.6(C2):c.1540G>A (p.Asp514Asn)
NM_000063.6(C2):c.1544A>C (p.His515Pro)
NM_000063.6(C2):c.1552T>G (p.Trp518Gly) rs1771073249
NM_000063.6(C2):c.1567+22_1567+43del rs541057516
NM_000063.6(C2):c.1567+4A>G rs2151771890
NM_000063.6(C2):c.158A>G (p.Gln53Arg) rs773595474
NM_000063.6(C2):c.1591A>G (p.Lys531Glu) rs2151772227
NM_000063.6(C2):c.160G>A (p.Gly54Ser)
NM_000063.6(C2):c.1628G>A (p.Gly543Glu)
NM_000063.6(C2):c.1629G>A (p.Gly543=)
NM_000063.6(C2):c.1654C>T (p.Gln552Ter)
NM_000063.6(C2):c.165G>A (p.Leu55=) rs1008127965
NM_000063.6(C2):c.1701G>T (p.Leu567=)
NM_000063.6(C2):c.1716G>A (p.Lys572=)
NM_000063.6(C2):c.1733+11T>A
NM_000063.6(C2):c.1733+1G>A
NM_000063.6(C2):c.1734-12T>C
NM_000063.6(C2):c.1734-16T>C
NM_000063.6(C2):c.1734-4C>T
NM_000063.6(C2):c.173C>T (p.Ser58Phe)
NM_000063.6(C2):c.1740C>T (p.Ile580=)
NM_000063.6(C2):c.174C>T (p.Ser58=)
NM_000063.6(C2):c.1755G>T (p.Thr585=)
NM_000063.6(C2):c.1757T>C (p.Met586Thr) rs1159276720
NM_000063.6(C2):c.176C>A (p.Pro59Gln) rs961046350
NM_000063.6(C2):c.1777C>T (p.Arg593Trp)
NM_000063.6(C2):c.1801A>G (p.Arg601Gly)
NM_000063.6(C2):c.1810+18T>C
NM_000063.6(C2):c.1810+2T>G
NM_000063.6(C2):c.1811-16del rs769679098
NM_000063.6(C2):c.1811-5TA[3] rs772267694
NM_000063.6(C2):c.1812G>A (p.Glu604=)
NM_000063.6(C2):c.1829_1832del (p.Lys610fs)
NM_000063.6(C2):c.1833G>A (p.Gln611=)
NM_000063.6(C2):c.1846C>T (p.His616Tyr) rs2151773769
NM_000063.6(C2):c.1854C>T (p.Val618=)
NM_000063.6(C2):c.1869C>A (p.Ser623Arg)
NM_000063.6(C2):c.189G>C (p.Leu63=)
NM_000063.6(C2):c.1902+10T>C
NM_000063.6(C2):c.1903-12C>T
NM_000063.6(C2):c.1903-14C>T
NM_000063.6(C2):c.1914T>C (p.Cys638=) rs2151775190
NM_000063.6(C2):c.1940C>A (p.Thr647Asn)
NM_000063.6(C2):c.1943T>C (p.Met648Thr)
NM_000063.6(C2):c.2028G>C (p.Lys676Asn)
NM_000063.6(C2):c.2029+12A>C
NM_000063.6(C2):c.2029+13C>T
NM_000063.6(C2):c.2030-13C>T
NM_000063.6(C2):c.2030-1G>A
NM_000063.6(C2):c.2045C>A (p.Ala682Glu)
NM_000063.6(C2):c.2050T>C (p.Phe684Leu)
NM_000063.6(C2):c.2075T>C (p.Phe692Ser) rs2151776206
NM_000063.6(C2):c.2109C>T (p.Asn703=)
NM_000063.6(C2):c.2127T>C (p.Ala709=)
NM_000063.6(C2):c.2134A>C (p.Asn712His)
NM_000063.6(C2):c.2140C>T (p.Arg714Cys)
NM_000063.6(C2):c.2151C>G (p.Ala717=)
NM_000063.6(C2):c.2156G>A (p.Arg719His)
NM_000063.6(C2):c.2167C>T (p.Pro723Ser)
NM_000063.6(C2):c.2169G>A (p.Pro723=)
NM_000063.6(C2):c.217C>T (p.Pro73Ser)
NM_000063.6(C2):c.2196C>T (p.Leu732=)
NM_000063.6(C2):c.2197T>C (p.Phe733Leu) rs1771303621
NM_000063.6(C2):c.2201G>A (p.Arg734His) rs146067615
NM_000063.6(C2):c.2201G>T (p.Arg734Leu) rs146067615
NM_000063.6(C2):c.2203A>G (p.Met735Val) rs757311436
NM_000063.6(C2):c.2233G>A (p.Asp745Asn)
NM_000063.6(C2):c.223G>A (p.Ala75Thr) rs2151740317
NM_000063.6(C2):c.2251C>A (p.Pro751Thr) rs1771312221
NM_000063.6(C2):c.228C>A (p.Thr76=)
NM_000063.6(C2):c.229C>A (p.Arg77=)
NM_000063.6(C2):c.231G>A (p.Arg77=) rs2151740348
NM_000063.6(C2):c.235_236del (p.Leu79fs)
NM_000063.6(C2):c.246G>A (p.Ala82=) rs754668308
NM_000063.6(C2):c.256C>T (p.Pro86Ser)
NM_000063.6(C2):c.257-10C>T rs1401389832
NM_000063.6(C2):c.257-12CT[3]
NM_000063.6(C2):c.257-15T>G
NM_000063.6(C2):c.257-16C>T
NM_000063.6(C2):c.259G>C (p.Val87Leu) rs2151741585
NM_000063.6(C2):c.263G>A (p.Arg88His)
NM_000063.6(C2):c.275_276del (p.Pro92fs)
NM_000063.6(C2):c.279C>T (p.Val93=) rs1288209255
NM_000063.6(C2):c.298T>C (p.Tyr100His)
NM_000063.6(C2):c.314G>T (p.Gly105Val)
NM_000063.6(C2):c.325G>A (p.Val109Met)
NM_000063.6(C2):c.348G>A (p.Glu116=)
NM_000063.6(C2):c.363C>G (p.Phe121Leu)
NM_000063.6(C2):c.37del (p.Leu13fs) rs1394227134
NM_000063.6(C2):c.381T>A (p.Pro127=)
NM_000063.6(C2):c.399C>T (p.Pro133=)
NM_000063.6(C2):c.402C>A (p.Asn134Lys)
NM_000063.6(C2):c.407T>G (p.Met136Arg)
NM_000063.6(C2):c.421A>G (p.Thr141Ala) rs1023850620
NM_000063.6(C2):c.437A>G (p.Asn146Ser) rs2151742291
NM_000063.6(C2):c.442+14C>T
NM_000063.6(C2):c.442+18T>C
NM_000063.6(C2):c.442G>A (p.Ala148Thr)
NM_000063.6(C2):c.443-21_443-20delinsTA
NM_000063.6(C2):c.459C>T (p.Asn153=)
NM_000063.6(C2):c.46+12G>T
NM_000063.6(C2):c.46+15A>G
NM_000063.6(C2):c.47-12C>T
NM_000063.6(C2):c.47-17T>G
NM_000063.6(C2):c.47-9C>G
NM_000063.6(C2):c.478G>T (p.Ala160Ser)
NM_000063.6(C2):c.517G>A (p.Val173Ile) rs2151753241
NM_000063.6(C2):c.534C>A (p.Ser178=)
NM_000063.6(C2):c.550A>G (p.Thr184Ala)
NM_000063.6(C2):c.567G>A (p.Arg189=)
NM_000063.6(C2):c.580A>G (p.Asn194Asp)
NM_000063.6(C2):c.583G>C (p.Gly195Arg) rs1464680465
NM_000063.6(C2):c.599C>T (p.Thr200Met)
NM_000063.6(C2):c.59C>T (p.Ser20Leu)
NM_000063.6(C2):c.60G>A (p.Ser20=) rs766410942
NM_000063.6(C2):c.614G>C (p.Arg205Pro)
NM_000063.6(C2):c.616+1G>A
NM_000063.6(C2):c.616+2T>G
NM_000063.6(C2):c.616C>G (p.Gln206Glu) rs759980745
NM_000063.6(C2):c.617-14G>A
NM_000063.6(C2):c.630T>A (p.Tyr210Ter)
NM_000063.6(C2):c.656C>A (p.Ala219Asp)
NM_000063.6(C2):c.660G>C (p.Leu220=)
NM_000063.6(C2):c.685G>A (p.Gly229Arg) rs2151754059
NM_000063.6(C2):c.715+1G>T
NM_000063.6(C2):c.715+20T>C
NM_000063.6(C2):c.716-17del
NM_000063.6(C2):c.719G>A (p.Ser240Asn)
NM_000063.6(C2):c.727C>T (p.Arg243Cys)
NM_000063.6(C2):c.728G>A (p.Arg243His) rs201130773
NM_000063.6(C2):c.72C>T (p.Cys24=)
NM_000063.6(C2):c.744G>A (p.Gln248=)
NM_000063.6(C2):c.745C>T (p.Arg249Cys)
NM_000063.6(C2):c.746G>A (p.Arg249His)
NM_000063.6(C2):c.749C>T (p.Ser250Phe)
NM_000063.6(C2):c.756T>C (p.His252=)
NM_000063.6(C2):c.757C>T (p.Leu253=)
NM_000063.6(C2):c.768C>G (p.Tyr256Ter)
NM_000063.6(C2):c.778G>A (p.Asp260Asn)
NM_000063.6(C2):c.785C>T (p.Ser262Leu) rs267600964
NM_000063.6(C2):c.789G>A (p.Gln263=)
NM_000063.6(C2):c.795_796del (p.Ser266fs)
NM_000063.6(C2):c.797C>G (p.Ser266Trp) rs116568722
NM_000063.6(C2):c.797C>T (p.Ser266Leu) rs116568722
NM_000063.6(C2):c.810_811delinsAA (p.Phe270_Leu271delinsLeuIle)
NM_000063.6(C2):c.81C>T (p.Asn27=) rs201336507
NM_000063.6(C2):c.825G>C (p.Glu275Asp)
NM_000063.6(C2):c.829G>A (p.Ala277Thr)
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000063.6(C2):c.844G>C (p.Asp282His) rs2151754946
NM_000063.6(C2):c.849+13G>A
NM_000063.6(C2):c.849+75C>T
NM_000063.6(C2):c.850-20C>T
NM_000063.6(C2):c.850-8C>T rs2151757748
NM_000063.6(C2):c.865A>G (p.Ile289Val)
NM_000063.6(C2):c.870T>C (p.Asn290=)
NM_000063.6(C2):c.883A>C (p.Ile295Leu)
NM_000063.6(C2):c.917del (p.Met306fs)
NM_000063.6(C2):c.925C>T (p.Leu309=)
NM_000063.6(C2):c.935A>G (p.Asn312Ser)
NM_000063.6(C2):c.93G>A (p.Ser31=)
NM_000063.6(C2):c.941G>A (p.Arg314Gln) rs550498736
NM_000063.6(C2):c.943G>A (p.Asp315Asn)
NM_000063.6(C2):c.954G>A (p.Glu318=)
NM_000063.6(C2):c.960C>G (p.Ile320Met)
NM_000063.6(C2):c.966C>A (p.Ser322Arg) rs2151758087
NM_000063.6(C2):c.970G>T (p.Glu324Ter)
NM_000063.6(C2):c.988+13T>A
NM_000063.6(C2):c.988+17G>A
NM_000063.6(C2):c.989-10C>T
NM_000063.6(C2):c.989-9A>G rs1284548990

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.