ClinVar Miner

List of variants reported as uncertain significance for arrhythmogenic right ventricular dysplasia 11 by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 535
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.2264G>T (p.Gly755Val) rs367990772 0.00018
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr) rs201856473 0.00016
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp) rs368082152 0.00013
NM_024422.6(DSC2):c.734A>C (p.Glu245Ala) rs373201722 0.00013
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn) rs150318400 0.00010
NM_024422.6(DSC2):c.1844C>A (p.Ser615Tyr) rs756304120 0.00010
NM_024422.6(DSC2):c.1802A>C (p.Glu601Ala) rs537381028 0.00009
NM_024422.6(DSC2):c.23G>T (p.Gly8Val) rs794728063 0.00009
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser) rs139979318 0.00009
NM_024422.6(DSC2):c.295T>A (p.Ser99Thr) rs199714872 0.00008
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys) rs762556795 0.00008
NM_024422.6(DSC2):c.596G>A (p.Arg199His) rs374707462 0.00008
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly) rs368089478 0.00006
NM_024422.6(DSC2):c.1264-18A>G rs374946259 0.00006
NM_024422.6(DSC2):c.1291A>G (p.Met431Val) rs377287621 0.00006
NM_024422.6(DSC2):c.2162C>T (p.Thr721Met) rs759513934 0.00006
NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln) rs765067237 0.00006
NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe) rs141873745 0.00006
NM_024422.6(DSC2):c.266C>T (p.Ser89Leu) rs141379407 0.00006
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys) rs879255385 0.00005
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys) rs193922708 0.00005
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr) rs777688726 0.00004
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn) rs762055797 0.00004
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) rs139290300 0.00004
NM_024422.6(DSC2):c.2366G>A (p.Gly789Glu) rs766828422 0.00004
NM_024422.6(DSC2):c.239A>G (p.Tyr80Cys) rs369761766 0.00004
NM_024422.6(DSC2):c.2576A>G (p.Tyr859Cys) rs758950880 0.00004
NM_024422.6(DSC2):c.2591C>T (p.Ser864Leu) rs202031070 0.00004
NM_024422.6(DSC2):c.286A>G (p.Ile96Val) rs772447450 0.00004
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr) rs200218585 0.00004
NM_024422.6(DSC2):c.490G>A (p.Ala164Thr) rs978623916 0.00004
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) rs368299411 0.00003
NM_024422.6(DSC2):c.1019C>A (p.Thr340Asn) rs757065157 0.00003
NM_024422.6(DSC2):c.115G>A (p.Val39Ile) rs1447651355 0.00003
NM_024422.6(DSC2):c.1537G>T (p.Asp513Tyr) rs373324195 0.00003
NM_024422.6(DSC2):c.1663+4A>G rs369849387 0.00003
NM_024422.6(DSC2):c.1814G>A (p.Gly605Asp) rs1342808624 0.00003
NM_024422.6(DSC2):c.2036A>G (p.His679Arg) rs145710244 0.00003
NM_024422.6(DSC2):c.2059G>A (p.Gly687Ser) rs199616533 0.00003
NM_024422.6(DSC2):c.2126G>A (p.Cys709Tyr) rs145831682 0.00003
NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln) rs535014010 0.00003
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn) rs140856220 0.00003
NM_024422.6(DSC2):c.395G>A (p.Arg132His) rs375410133 0.00003
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys) rs769787593 0.00003
NM_024422.6(DSC2):c.601G>A (p.Val201Ile) rs202058544 0.00003
NM_024422.6(DSC2):c.619G>C (p.Glu207Gln) rs200634448 0.00003
NM_024422.6(DSC2):c.818C>T (p.Pro273Leu) rs864622708 0.00003
NM_024422.6(DSC2):c.841A>G (p.Lys281Glu) rs373697870 0.00003
NM_024422.6(DSC2):c.1033A>G (p.Ile345Val) rs1177194145 0.00002
NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu) rs560482778 0.00002
NM_024422.6(DSC2):c.1438A>G (p.Met480Val) rs370616107 0.00002
NM_024422.6(DSC2):c.1456G>A (p.Val486Met) rs188634770 0.00002
NM_024422.6(DSC2):c.149G>A (p.Gly50Asp) rs397517391 0.00002
NM_024422.6(DSC2):c.1667G>A (p.Gly556Glu) rs977269905 0.00002
NM_024422.6(DSC2):c.1846A>G (p.Thr616Ala) rs753887142 0.00002
NM_024422.6(DSC2):c.1862G>T (p.Arg621Ile) rs1225904818 0.00002
NM_024422.6(DSC2):c.20C>T (p.Ser7Phe) rs1227564823 0.00002
NM_024422.6(DSC2):c.2138C>T (p.Thr713Met) rs180863872 0.00002
NM_024422.6(DSC2):c.2287G>A (p.Ala763Thr) rs777004957 0.00002
NM_024422.6(DSC2):c.2381C>T (p.Ser794Leu) rs1617629 0.00002
NM_024422.6(DSC2):c.2392C>T (p.Arg798Trp) rs201548399 0.00002
NM_024422.6(DSC2):c.2475G>C (p.Glu825Asp) rs776401728 0.00002
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys) rs727504578 0.00002
NM_024422.6(DSC2):c.658G>A (p.Gly220Arg) rs750961818 0.00002
NM_024422.6(DSC2):c.745A>C (p.Thr249Pro) rs149848359 0.00002
NM_024422.6(DSC2):c.824C>T (p.Thr275Met) rs397517404 0.00002
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser) rs200802591 0.00002
NM_024422.6(DSC2):c.874C>T (p.Pro292Ser) rs767340313 0.00002
NM_024422.6(DSC2):c.898A>G (p.Thr300Ala) rs531245154 0.00002
NM_024422.6(DSC2):c.965A>G (p.Lys322Arg) rs1157312147 0.00002
NM_024422.6(DSC2):c.977A>C (p.Gln326Pro) rs397517409 0.00002
NM_024422.6(DSC2):c.1024A>G (p.Ile342Val) rs746745677 0.00001
NM_024422.6(DSC2):c.1039G>T (p.Asp347Tyr) rs1214725211 0.00001
NM_024422.6(DSC2):c.1057C>A (p.Pro353Thr) rs999869714 0.00001
NM_024422.6(DSC2):c.1081G>A (p.Val361Met) rs751810874 0.00001
NM_024422.6(DSC2):c.1103C>T (p.Thr368Ile) rs538663626 0.00001
NM_024422.6(DSC2):c.1120T>G (p.Leu374Val) rs1987251997 0.00001
NM_024422.6(DSC2):c.1124G>A (p.Arg375Gln) rs770412621 0.00001
NM_024422.6(DSC2):c.1172C>A (p.Ala391Asp) rs1300215880 0.00001
NM_024422.6(DSC2):c.1238A>G (p.Asn413Ser) rs1293927459 0.00001
NM_024422.6(DSC2):c.1309G>C (p.Val437Leu) rs775579662 0.00001
NM_024422.6(DSC2):c.1315A>G (p.Asn439Asp) rs148712725 0.00001
NM_024422.6(DSC2):c.133G>A (p.Ala45Thr) rs1467311353 0.00001
NM_024422.6(DSC2):c.1399G>C (p.Glu467Gln) rs1208470556 0.00001
NM_024422.6(DSC2):c.1402G>A (p.Gly468Ser) rs149316362 0.00001
NM_024422.6(DSC2):c.1421C>T (p.Pro474Leu) rs776398212 0.00001
NM_024422.6(DSC2):c.1435C>T (p.Arg479Cys) rs138761522 0.00001
NM_024422.6(DSC2):c.1438A>C (p.Met480Leu) rs370616107 0.00001
NM_024422.6(DSC2):c.1469G>A (p.Ser490Asn) rs780446276 0.00001
NM_024422.6(DSC2):c.146T>C (p.Val49Ala) rs1275514075 0.00001
NM_024422.6(DSC2):c.14G>T (p.Arg5Leu) rs899009158 0.00001
NM_024422.6(DSC2):c.1506T>A (p.Ser502Arg) rs756803622 0.00001
NM_024422.6(DSC2):c.1520+6T>C rs1029243199 0.00001
NM_024422.6(DSC2):c.1521-18A>G rs886506694 0.00001
NM_024422.6(DSC2):c.154+6G>A rs778131915 0.00001
NM_024422.6(DSC2):c.1547G>A (p.Gly516Glu) rs1402893994 0.00001
NM_024422.6(DSC2):c.155-3C>T rs745988877 0.00001
NM_024422.6(DSC2):c.1568A>G (p.Asn523Ser) rs766187198 0.00001
NM_024422.6(DSC2):c.1577C>T (p.Ser526Leu) rs887847751 0.00001
NM_024422.6(DSC2):c.1581C>G (p.Ile527Met) rs750329563 0.00001
NM_024422.6(DSC2):c.1627G>A (p.Gly543Ser) rs1418248949 0.00001
NM_024422.6(DSC2):c.1628G>A (p.Gly543Asp) rs977709312 0.00001
NM_024422.6(DSC2):c.1634A>G (p.Tyr545Cys) rs776917359 0.00001
NM_024422.6(DSC2):c.1678A>G (p.Thr560Ala) rs1314129882 0.00001
NM_024422.6(DSC2):c.1679C>T (p.Thr560Met) rs772775522 0.00001
NM_024422.6(DSC2):c.1693A>G (p.Ile565Val) rs780712159 0.00001
NM_024422.6(DSC2):c.1697T>C (p.Ile566Thr) rs1399123480 0.00001
NM_024422.6(DSC2):c.1712A>G (p.Asn571Ser) rs1462605063 0.00001
NM_024422.6(DSC2):c.1781T>C (p.Ile594Thr) rs915888072 0.00001
NM_024422.6(DSC2):c.1783G>A (p.Val595Ile) rs1447974524 0.00001
NM_024422.6(DSC2):c.1796C>G (p.Pro599Arg) rs377384219 0.00001
NM_024422.6(DSC2):c.1906T>G (p.Ser636Ala) rs1191039477 0.00001
NM_024422.6(DSC2):c.1907C>T (p.Ser636Phe) rs764355417 0.00001
NM_024422.6(DSC2):c.1910A>G (p.Tyr637Cys) rs758990451 0.00001
NM_024422.6(DSC2):c.1916A>G (p.Asn639Ser) rs369281243 0.00001
NM_024422.6(DSC2):c.1924C>G (p.Pro642Ala) rs368353349 0.00001
NM_024422.6(DSC2):c.1996G>A (p.Val666Ile) rs758646191 0.00001
NM_024422.6(DSC2):c.2010C>A (p.Asp670Glu) rs1423264468 0.00001
NM_024422.6(DSC2):c.2039G>T (p.Arg680Leu) rs374002111 0.00001
NM_024422.6(DSC2):c.2047C>A (p.Pro683Thr) rs1386709734 0.00001
NM_024422.6(DSC2):c.2068G>T (p.Val690Leu) rs768784624 0.00001
NM_024422.6(DSC2):c.2082G>T (p.Lys694Asn) rs397517397 0.00001
NM_024422.6(DSC2):c.2125T>G (p.Cys709Gly) rs755534194 0.00001
NM_024422.6(DSC2):c.2147G>C (p.Cys716Ser) rs764008863 0.00001
NM_024422.6(DSC2):c.2206A>G (p.Asn736Asp) rs371950232 0.00001
NM_024422.6(DSC2):c.2215G>T (p.Val739Leu) rs780610767 0.00001
NM_024422.6(DSC2):c.2231C>T (p.Ala744Val) rs758269321 0.00001
NM_024422.6(DSC2):c.2258C>T (p.Ala753Val) rs1217851416 0.00001
NM_024422.6(DSC2):c.2294C>T (p.Ala765Val) rs771628564 0.00001
NM_024422.6(DSC2):c.2300G>A (p.Gly767Glu) rs772898155 0.00001
NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala) rs749174176 0.00001
NM_024422.6(DSC2):c.2328C>G (p.Ile776Met) rs1789054 0.00001
NM_024422.6(DSC2):c.2353G>A (p.Glu785Lys) rs752873618 0.00001
NM_024422.6(DSC2):c.2354A>G (p.Glu785Gly) rs769747496 0.00001
NM_024422.6(DSC2):c.2396G>A (p.Gly799Glu) rs794728071 0.00001
NM_024422.6(DSC2):c.2408A>G (p.His803Arg) rs150124218 0.00001
NM_024422.6(DSC2):c.2441C>T (p.Thr814Met) rs756497616 0.00001
NM_024422.6(DSC2):c.2446G>A (p.Val816Met) rs377700521 0.00001
NM_024422.6(DSC2):c.2452A>G (p.Asn818Asp) rs1454999415 0.00001
NM_024422.6(DSC2):c.2512G>A (p.Val838Met) rs1986695514 0.00001
NM_024422.6(DSC2):c.2545C>T (p.His849Tyr) rs1312909126 0.00001
NM_024422.6(DSC2):c.2588G>A (p.Gly863Glu) rs778423904 0.00001
NM_024422.6(DSC2):c.2597C>G (p.Ala866Gly) rs760363798 0.00001
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter) rs727504823 0.00001
NM_024422.6(DSC2):c.2626C>G (p.Gln876Glu) rs727504906 0.00001
NM_024422.6(DSC2):c.2642T>A (p.Leu881His) rs1231247825 0.00001
NM_024422.6(DSC2):c.2694C>A (p.Cys898Ter) rs1986684188 0.00001
NM_024422.6(DSC2):c.325A>C (p.Ile109Leu) rs1256252633 0.00001
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929 0.00001
NM_024422.6(DSC2):c.355-3G>T rs975997446 0.00001
NM_024422.6(DSC2):c.363G>T (p.Lys121Asn) rs762877422 0.00001
NM_024422.6(DSC2):c.373A>G (p.Thr125Ala) rs369061469 0.00001
NM_024422.6(DSC2):c.425G>C (p.Cys142Ser) rs1478081073 0.00001
NM_024422.6(DSC2):c.448G>C (p.Gly150Arg) rs1220979594 0.00001
NM_024422.6(DSC2):c.474+5C>T rs397517400 0.00001
NM_024422.6(DSC2):c.478C>A (p.Gln160Lys) rs374844700 0.00001
NM_024422.6(DSC2):c.47G>A (p.Arg16Gln) rs869025386 0.00001
NM_024422.6(DSC2):c.488C>T (p.Thr163Met) rs758759298 0.00001
NM_024422.6(DSC2):c.506T>C (p.Ile169Thr) rs1185834011 0.00001
NM_024422.6(DSC2):c.508T>C (p.Tyr170His) rs1484093917 0.00001
NM_024422.6(DSC2):c.509A>G (p.Tyr170Cys) rs759910399 0.00001
NM_024422.6(DSC2):c.517A>T (p.Ile173Leu) rs766855728 0.00001
NM_024422.6(DSC2):c.537C>A (p.Asp179Glu) rs1987521149 0.00001
NM_024422.6(DSC2):c.549G>T (p.Arg183=) rs774025474 0.00001
NM_024422.6(DSC2):c.608G>A (p.Arg203His) rs758527425 0.00001
NM_024422.6(DSC2):c.617A>G (p.Tyr206Cys) rs753004247 0.00001
NM_024422.6(DSC2):c.62C>A (p.Thr21Asn) rs931909783 0.00001
NM_024422.6(DSC2):c.631-3C>T rs1262481741 0.00001
NM_024422.6(DSC2):c.638C>T (p.Ala213Val) rs1299475740 0.00001
NM_024422.6(DSC2):c.646A>G (p.Thr216Ala) rs755298693 0.00001
NM_024422.6(DSC2):c.697A>G (p.Ile233Val) rs886039077 0.00001
NM_024422.6(DSC2):c.70A>G (p.Ile24Val) rs1228372400 0.00001
NM_024422.6(DSC2):c.746C>A (p.Thr249Asn) rs1987447409 0.00001
NM_024422.6(DSC2):c.836G>A (p.Arg279His) rs775614779 0.00001
NM_024422.6(DSC2):c.872C>T (p.Ser291Leu) rs755952123 0.00001
NM_024422.6(DSC2):c.880C>A (p.Leu294Ile) rs761796202 0.00001
NM_024422.6(DSC2):c.901A>G (p.Thr301Ala) rs576466497 0.00001
NM_024422.6(DSC2):c.949G>A (p.Asp317Asn) rs769219956 0.00001
NC_000018.9:g.(?_28647961)_(28681954_?)dup
NC_000018.9:g.(?_28647971)_(28673616_?)dup
NC_000018.9:g.(?_28647981)_(28681934_?)dup
NM_024422.6(DSC2):c.1022G>T (p.Cys341Phe)
NM_024422.6(DSC2):c.1025T>A (p.Ile342Asn)
NM_024422.6(DSC2):c.1027A>G (p.Ile343Val) rs1409325550
NM_024422.6(DSC2):c.1028T>C (p.Ile343Thr) rs1567978329
NM_024422.6(DSC2):c.1054T>A (p.Leu352Met) rs2144821150
NM_024422.6(DSC2):c.1058C>T (p.Pro353Leu) rs1208688367
NM_024422.6(DSC2):c.1066A>T (p.Thr356Ser) rs2144821078
NM_024422.6(DSC2):c.106A>G (p.Thr36Ala) rs2144850401
NM_024422.6(DSC2):c.1072A>C (p.Thr358Pro)
NM_024422.6(DSC2):c.1073C>A (p.Thr358Asn) rs139399951
NM_024422.6(DSC2):c.1078-6T>G rs1555639038
NM_024422.6(DSC2):c.1095A>T (p.Glu365Asp)
NM_024422.6(DSC2):c.1102A>G (p.Thr368Ala) rs1598583223
NM_024422.6(DSC2):c.1105G>A (p.Val369Ile)
NM_024422.6(DSC2):c.1111G>A (p.Val371Met) rs1252791235
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly) rs794728075
NM_024422.6(DSC2):c.1145A>T (p.Asp382Val)
NM_024422.6(DSC2):c.114T>A (p.His38Gln) rs1987672342
NM_024422.6(DSC2):c.1177T>G (p.Tyr393Asp)
NM_024422.6(DSC2):c.118C>A (p.Pro40Thr)
NM_024422.6(DSC2):c.1192G>A (p.Gly398Ser) rs1060502991
NM_024422.6(DSC2):c.1204G>T (p.Gly402Cys) rs1598583039
NM_024422.6(DSC2):c.1205G>T (p.Gly402Val)
NM_024422.6(DSC2):c.1215A>T (p.Lys405Asn) rs781472939
NM_024422.6(DSC2):c.1239T>A (p.Asn413Lys) rs765511398
NM_024422.6(DSC2):c.1239T>G (p.Asn413Lys) rs765511398
NM_024422.6(DSC2):c.1247T>C (p.Val416Ala)
NM_024422.6(DSC2):c.1255G>A (p.Val419Ile)
NM_024422.6(DSC2):c.1256T>C (p.Val419Ala)
NM_024422.6(DSC2):c.1263+2dup rs1987243669
NM_024422.6(DSC2):c.1263+3_1263+4insG rs1987243436
NM_024422.6(DSC2):c.1263+5G>T
NM_024422.6(DSC2):c.1264-11T>G
NM_024422.6(DSC2):c.1264C>T (p.Pro422Ser)
NM_024422.6(DSC2):c.1280A>G (p.Glu427Gly)
NM_024422.6(DSC2):c.1289A>G (p.Gln430Arg)
NM_024422.6(DSC2):c.128T>C (p.Leu43Pro)
NM_024422.6(DSC2):c.1290G>C (p.Gln430His) rs191461349
NM_024422.6(DSC2):c.1296C>G (p.Ile432Met)
NM_024422.6(DSC2):c.1307G>T (p.Gly436Val) rs763981974
NM_024422.6(DSC2):c.1312G>C (p.Val438Leu)
NM_024422.6(DSC2):c.1313T>C (p.Val438Ala)
NM_024422.6(DSC2):c.1316A>C (p.Asn439Thr)
NM_024422.6(DSC2):c.1321G>A (p.Ala441Thr) rs2144814171
NM_024422.6(DSC2):c.1321_1329del (p.Ala441_Phe443del) rs1987173347
NM_024422.6(DSC2):c.1324C>G (p.Pro442Ala)
NM_024422.6(DSC2):c.1324C>T (p.Pro442Ser) rs201480399
NM_024422.6(DSC2):c.1340C>G (p.Ala447Gly)
NM_024422.6(DSC2):c.1341_1355del (p.Ser448_Ala452del) rs1301674152
NM_024422.6(DSC2):c.1343G>A (p.Ser448Asn) rs778959850
NM_024422.6(DSC2):c.1344T>A (p.Ser448Arg)
NM_024422.6(DSC2):c.1345C>G (p.Pro449Ala)
NM_024422.6(DSC2):c.1346C>G (p.Pro449Arg) rs1394323673
NM_024422.6(DSC2):c.1350A>C (p.Arg450Ser) rs144242114
NM_024422.6(DSC2):c.1352C>T (p.Ser451Leu) rs794728068
NM_024422.6(DSC2):c.1358T>C (p.Met453Thr)
NM_024422.6(DSC2):c.1396G>C (p.Asp466His)
NM_024422.6(DSC2):c.1405C>T (p.Pro469Ser) rs2144813745
NM_024422.6(DSC2):c.1418C>T (p.Pro473Leu) rs1987166340
NM_024422.6(DSC2):c.1424T>C (p.Ile475Thr) rs1022023137
NM_024422.6(DSC2):c.1427A>C (p.Gln476Pro)
NM_024422.6(DSC2):c.142C>G (p.Leu48Val) rs769776739
NM_024422.6(DSC2):c.142C>T (p.Leu48Phe) rs769776739
NM_024422.6(DSC2):c.1436G>A (p.Arg479His) rs774641579
NM_024422.6(DSC2):c.1436G>T (p.Arg479Leu) rs774641579
NM_024422.6(DSC2):c.1466C>T (p.Thr489Ile)
NM_024422.6(DSC2):c.1470C>G (p.Ser490Arg) rs1237446574
NM_024422.6(DSC2):c.1475G>C (p.Gly492Ala)
NM_024422.6(DSC2):c.1477T>C (p.Tyr493His)
NM_024422.6(DSC2):c.1478A>G (p.Tyr493Cys) rs1987162049
NM_024422.6(DSC2):c.1505G>T (p.Ser502Ile)
NM_024422.6(DSC2):c.1510A>G (p.Ser504Gly) rs750965801
NM_024422.6(DSC2):c.1514G>A (p.Gly505Asp) rs1987160435
NM_024422.6(DSC2):c.1520+4C>T
NM_024422.6(DSC2):c.1523A>G (p.Tyr508Cys) rs1987155402
NM_024422.6(DSC2):c.1540C>G (p.Pro514Ala)
NM_024422.6(DSC2):c.1543A>G (p.Thr515Ala) rs771406828
NM_024422.6(DSC2):c.1547G>C (p.Gly516Ala)
NM_024422.6(DSC2):c.154G>A (p.Val52Ile)
NM_024422.6(DSC2):c.1552G>A (p.Val518Ile) rs397517394
NM_024422.6(DSC2):c.1556C>G (p.Thr519Ser)
NM_024422.6(DSC2):c.155T>A (p.Val52Asp)
NM_024422.6(DSC2):c.155T>C (p.Val52Ala) rs1987629779
NM_024422.6(DSC2):c.1562A>C (p.Asp521Ala) rs1987152292
NM_024422.6(DSC2):c.1565A>C (p.Glu522Ala)
NM_024422.6(DSC2):c.1571C>G (p.Thr524Arg)
NM_024422.6(DSC2):c.158A>T (p.Asn53Ile)
NM_024422.6(DSC2):c.1593A>C (p.Arg531Ser) rs762973455
NM_024422.6(DSC2):c.1595G>A (p.Ser532Asn) rs1987150000
NM_024422.6(DSC2):c.1600G>A (p.Asp534Asn) rs1555638635
NM_024422.6(DSC2):c.1615A>G (p.Thr539Ala)
NM_024422.6(DSC2):c.1620C>G (p.Ile540Met) rs765374888
NM_024422.6(DSC2):c.1658A>G (p.Asp553Gly)
NM_024422.6(DSC2):c.1661A>G (p.Gln554Arg) rs1987145211
NM_024422.6(DSC2):c.1676G>A (p.Cys559Tyr) rs773866217
NM_024422.6(DSC2):c.168G>C (p.Glu56Asp) rs1555640202
NM_024422.6(DSC2):c.1694T>G (p.Ile565Ser) rs1986963426
NM_024422.6(DSC2):c.16C>G (p.Pro6Ala)
NM_024422.6(DSC2):c.16C>T (p.Pro6Ser)
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu) rs201517977
NM_024422.6(DSC2):c.1708G>A (p.Val570Met) rs992887444
NM_024422.6(DSC2):c.1715A>T (p.Asp572Val) rs1030017004
NM_024422.6(DSC2):c.1717A>G (p.Asn573Asp) rs1057518818
NM_024422.6(DSC2):c.1730T>C (p.Ile577Thr) rs2144800248
NM_024422.6(DSC2):c.1731A>G (p.Ile577Met) rs2144800239
NM_024422.6(DSC2):c.1733C>T (p.Pro578Leu)
NM_024422.6(DSC2):c.1738A>G (p.Lys580Glu)
NM_024422.6(DSC2):c.173T>G (p.Phe58Cys)
NM_024422.6(DSC2):c.1741A>C (p.Thr581Pro) rs1266547190
NM_024422.6(DSC2):c.1744G>A (p.Val582Met)
NM_024422.6(DSC2):c.1745T>C (p.Val582Ala) rs1986959880
NM_024422.6(DSC2):c.1750A>T (p.Ile584Phe) rs755041461
NM_024422.6(DSC2):c.1762A>T (p.Thr588Ser)
NM_024422.6(DSC2):c.1765A>G (p.Met589Val) rs1442456553
NM_024422.6(DSC2):c.1766T>A (p.Met589Lys) rs201856473
NM_024422.6(DSC2):c.1780A>C (p.Ile594Leu) rs1365493039
NM_024422.6(DSC2):c.1780A>G (p.Ile594Val) rs1365493039
NM_024422.6(DSC2):c.1786G>C (p.Ala596Pro)
NM_024422.6(DSC2):c.1795C>G (p.Pro599Ala)
NM_024422.6(DSC2):c.17C>T (p.Pro6Leu) rs1378826078
NM_024422.6(DSC2):c.1811A>G (p.His604Arg)
NM_024422.6(DSC2):c.1812T>A (p.His604Gln) rs781010501
NM_024422.6(DSC2):c.182C>G (p.Ala61Gly) rs758707293
NM_024422.6(DSC2):c.182C>T (p.Ala61Val)
NM_024422.6(DSC2):c.1837G>C (p.Glu613Gln) rs777716519
NM_024422.6(DSC2):c.1840A>G (p.Ser614Gly) rs1986952876
NM_024422.6(DSC2):c.1846A>T (p.Thr616Ser) rs753887142
NM_024422.6(DSC2):c.1852G>A (p.Glu618Lys)
NM_024422.6(DSC2):c.1867T>C (p.Trp623Arg)
NM_024422.6(DSC2):c.186T>A (p.Asn62Lys) rs748644229
NM_024422.6(DSC2):c.1879G>A (p.Ala627Thr)
NM_024422.6(DSC2):c.1882A>G (p.Ile628Val) rs1986950360
NM_024422.6(DSC2):c.1889A>T (p.Asp630Val)
NM_024422.6(DSC2):c.1892C>A (p.Thr631Lys)
NM_024422.6(DSC2):c.1892C>T (p.Thr631Ile)
NM_024422.6(DSC2):c.1907C>G (p.Ser636Cys) rs764355417
NM_024422.6(DSC2):c.1918G>A (p.Asp640Asn) rs267605146
NM_024422.6(DSC2):c.1934C>T (p.Ser645Leu) rs1339580561
NM_024422.6(DSC2):c.1936T>A (p.Tyr646Asn)
NM_024422.6(DSC2):c.1939G>A (p.Val647Ile)
NM_024422.6(DSC2):c.193C>G (p.His65Asp) rs2144846957
NM_024422.6(DSC2):c.1940T>C (p.Val647Ala) rs1986843978
NM_024422.6(DSC2):c.1957A>G (p.Arg653Gly) rs1598573489
NM_024422.6(DSC2):c.1960G>A (p.Asp654Asn) rs1315556709
NM_024422.6(DSC2):c.1970G>T (p.Gly657Val) rs1986842583
NM_024422.6(DSC2):c.1994A>G (p.Asp665Gly) rs778236763
NM_024422.6(DSC2):c.19T>C (p.Ser7Pro) rs774977340
NM_024422.6(DSC2):c.1A>G (p.Met1Val) rs1026402319
NM_024422.6(DSC2):c.2012G>A (p.Cys671Tyr)
NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser) rs869025387
NM_024422.6(DSC2):c.2014A>G (p.Ile672Val) rs375842356
NM_024422.6(DSC2):c.2032A>G (p.Thr678Ala)
NM_024422.6(DSC2):c.2033C>T (p.Thr678Ile) rs794728062
NM_024422.6(DSC2):c.2038C>A (p.Arg680Ser) rs757253682
NM_024422.6(DSC2):c.2038C>T (p.Arg680Cys) rs757253682
NM_024422.6(DSC2):c.2039G>A (p.Arg680His) rs374002111
NM_024422.6(DSC2):c.2045A>T (p.Asp682Val)
NM_024422.6(DSC2):c.2054T>C (p.Ile685Thr) rs1598573230
NM_024422.6(DSC2):c.2059G>C (p.Gly687Arg) rs199616533
NM_024422.6(DSC2):c.205C>A (p.Pro69Thr)
NM_024422.6(DSC2):c.2074C>A (p.Leu692Ile)
NM_024422.6(DSC2):c.2096C>A (p.Ala699Glu)
NM_024422.6(DSC2):c.2096C>T (p.Ala699Val) rs2144790608
NM_024422.6(DSC2):c.2098A>G (p.Ile700Val) rs1986830558
NM_024422.6(DSC2):c.2100_2102dup (p.Leu702dup) rs2144790582
NM_024422.6(DSC2):c.2102T>G (p.Leu701Trp)
NM_024422.6(DSC2):c.2103G>T (p.Leu701Phe)
NM_024422.6(DSC2):c.2108G>A (p.Gly703Asp)
NM_024422.6(DSC2):c.2110A>C (p.Ile704Leu) rs1986830020
NM_024422.6(DSC2):c.2113G>A (p.Ala705Thr) rs1986829904
NM_024422.6(DSC2):c.211T>G (p.Phe71Val)
NM_024422.6(DSC2):c.2124T>C (p.Phe708=)
NM_024422.6(DSC2):c.2124T>G (p.Phe708Leu)
NM_024422.6(DSC2):c.2126-11_2126-8del rs1476161781
NM_024422.6(DSC2):c.2147G>A (p.Cys716Tyr) rs764008863
NM_024422.6(DSC2):c.2162C>A (p.Thr721Lys) rs759513934
NM_024422.6(DSC2):c.216A>C (p.Gln72His) rs767293228
NM_024422.6(DSC2):c.216A>G (p.Gln72=) rs767293228
NM_024422.6(DSC2):c.2185C>A (p.Pro729Thr) rs1422818892
NM_024422.6(DSC2):c.2198C>T (p.Ala733Val) rs886053695
NM_024422.6(DSC2):c.2201A>G (p.Gln734Arg)
NM_024422.6(DSC2):c.2218T>C (p.Ser740Pro) rs1555637438
NM_024422.6(DSC2):c.2229A>C (p.Glu743Asp) rs1380094242
NM_024422.6(DSC2):c.222G>T (p.Leu74Phe) rs2144846839
NM_024422.6(DSC2):c.2234C>T (p.Pro745Leu) rs2144788073
NM_024422.6(DSC2):c.2236G>A (p.Gly746Arg) rs1986795375
NM_024422.6(DSC2):c.2248G>A (p.Val750Met) rs753775769
NM_024422.6(DSC2):c.2250+3A>G rs1555637433
NM_024422.6(DSC2):c.2251-4T>C rs2144784611
NM_024422.6(DSC2):c.2251T>C (p.Tyr751His)
NM_024422.6(DSC2):c.2276A>C (p.Gln759Pro)
NM_024422.6(DSC2):c.2279C>G (p.Thr760Ser) rs1331111206
NM_024422.6(DSC2):c.2288C>T (p.Ala763Val) rs1986739683
NM_024422.6(DSC2):c.229G>A (p.Gly77Ser)
NM_024422.6(DSC2):c.22G>A (p.Gly8Ser) rs1555641325
NM_024422.6(DSC2):c.2309G>A (p.Gly770Asp)
NM_024422.6(DSC2):c.230G>T (p.Gly77Val) rs761544006
NM_024422.6(DSC2):c.2344G>A (p.Glu782Lys) rs866805043
NM_024422.6(DSC2):c.2347A>G (p.Thr783Ala)
NM_024422.6(DSC2):c.2359G>A (p.Val787Met) rs1789053
NM_024422.6(DSC2):c.2363A>C (p.Lys788Thr) rs1430547540
NM_024422.6(DSC2):c.2369G>A (p.Gly790Glu) rs1555637241
NM_024422.6(DSC2):c.2375A>G (p.Gln792Arg)
NM_024422.6(DSC2):c.2377A>G (p.Thr793Ala)
NM_024422.6(DSC2):c.2379del (p.Ser794fs) rs2144783901
NM_024422.6(DSC2):c.2383G>A (p.Glu795Lys)
NM_024422.6(DSC2):c.2384_2385inv (p.Glu795Val)
NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu) rs61731921
NM_024422.6(DSC2):c.2398G>T (p.Ala800Ser) rs565136635
NM_024422.6(DSC2):c.2398del (p.Ala800fs) rs397517399
NM_024422.6(DSC2):c.2402G>A (p.Gly801Asp) rs1215462499
NM_024422.6(DSC2):c.2408A>C (p.His803Pro)
NM_024422.6(DSC2):c.2412C>A (p.His804Gln) rs1986728077
NM_024422.6(DSC2):c.2437C>T (p.His813Tyr) rs1402474064
NM_024422.6(DSC2):c.2438A>C (p.His813Pro) rs766881629
NM_024422.6(DSC2):c.2440A>T (p.Thr814Ser)
NM_024422.6(DSC2):c.2444A>G (p.Glu815Gly) rs1473364512
NM_024422.6(DSC2):c.2451C>A (p.Asp817Glu) rs762214540
NM_024422.6(DSC2):c.2456G>A (p.Cys819Tyr) rs773961399
NM_024422.6(DSC2):c.2462A>G (p.Tyr821Cys) rs762627642
NM_024422.6(DSC2):c.2487del (p.Phe829fs) rs794728073
NM_024422.6(DSC2):c.2497C>G (p.Arg833Gly) rs142410803
NM_024422.6(DSC2):c.2508+6T>C
NM_024422.6(DSC2):c.2516A>G (p.Tyr839Cys) rs2144781456
NM_024422.6(DSC2):c.2522G>A (p.Cys841Tyr) rs2144781440
NM_024422.6(DSC2):c.2529A>C (p.Gln843His) rs2144781418
NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs) rs794728077
NM_024422.6(DSC2):c.254T>C (p.Ile85Thr)
NM_024422.6(DSC2):c.2570_2573dup (p.Asn858delinsLysTer)
NM_024422.6(DSC2):c.2570_2574del (p.Tyr857fs) rs2144781196
NM_024422.6(DSC2):c.2582_2585dup (p.Gly863fs) rs780970079
NM_024422.6(DSC2):c.2597C>T (p.Ala866Val) rs760363798
NM_024422.6(DSC2):c.2597_2600del (p.Ala866fs) rs2144781031
NM_024422.6(DSC2):c.2606T>G (p.Val869Gly)
NM_024422.6(DSC2):c.2608G>T (p.Gly870Cys) rs1986689119
NM_024422.6(DSC2):c.2609G>A (p.Gly870Asp)
NM_024422.6(DSC2):c.2624G>T (p.Arg875Leu)
NM_024422.6(DSC2):c.2627A>T (p.Gln876Leu) rs1004351611
NM_024422.6(DSC2):c.2638G>A (p.Gly880Arg) rs1986686862
NM_024422.6(DSC2):c.2639G>A (p.Gly880Glu)
NM_024422.6(DSC2):c.2644G>A (p.Glu882Lys) rs1352394486
NM_024422.6(DSC2):c.2664G>C (p.Glu888Asp) rs748675400
NM_024422.6(DSC2):c.2666C>A (p.Pro889His) rs2144780689
NM_024422.6(DSC2):c.2683G>A (p.Ala895Thr) rs1060502988
NM_024422.6(DSC2):c.2684C>G (p.Ala895Gly) rs1986685195
NM_024422.6(DSC2):c.2693G>T (p.Cys898Phe)
NM_024422.6(DSC2):c.2695A>T (p.Met899Leu)
NM_024422.6(DSC2):c.2705G>T (p.Ter902Leu) rs1986683368
NM_024422.6(DSC2):c.286A>T (p.Ile96Leu)
NM_024422.6(DSC2):c.28T>C (p.Trp10Arg) rs1987977039
NM_024422.6(DSC2):c.296C>A (p.Ser99Tyr)
NM_024422.6(DSC2):c.296C>T (p.Ser99Phe)
NM_024422.6(DSC2):c.2T>G (p.Met1Arg)
NM_024422.6(DSC2):c.301A>G (p.Thr101Ala) rs1372970572
NM_024422.6(DSC2):c.309C>A (p.Asn103Lys) rs1484070582
NM_024422.6(DSC2):c.311A>T (p.Gln104Leu) rs1987621652
NM_024422.6(DSC2):c.318G>T (p.Lys106Asn)
NM_024422.6(DSC2):c.324A>T (p.Lys108Asn)
NM_024422.6(DSC2):c.328T>C (p.Phe110Leu)
NM_024422.6(DSC2):c.332T>G (p.Val111Gly)
NM_024422.6(DSC2):c.347A>C (p.Gln116Pro)
NM_024422.6(DSC2):c.355-9T>A
NM_024422.6(DSC2):c.355G>A (p.Val119Ile) rs2144843633
NM_024422.6(DSC2):c.371A>G (p.His124Arg) rs794728061
NM_024422.6(DSC2):c.378A>C (p.Lys126Asn)
NM_024422.6(DSC2):c.38C>T (p.Ala13Val) rs1404155315
NM_024422.6(DSC2):c.397G>C (p.Ala133Pro) rs200218585
NM_024422.6(DSC2):c.401A>G (p.Lys134Arg)
NM_024422.6(DSC2):c.413C>T (p.Ala138Val)
NM_024422.6(DSC2):c.428C>G (p.Ser143Trp)
NM_024422.6(DSC2):c.428C>T (p.Ser143Leu) rs769576778
NM_024422.6(DSC2):c.443C>G (p.Ser148Cys)
NM_024422.6(DSC2):c.448G>T (p.Gly150Cys)
NM_024422.6(DSC2):c.466C>T (p.Leu156Phe) rs2144843013
NM_024422.6(DSC2):c.46C>G (p.Arg16Gly)
NM_024422.6(DSC2):c.474+5C>G
NM_024422.6(DSC2):c.488C>A (p.Thr163Lys) rs758759298
NM_024422.6(DSC2):c.500A>C (p.Tyr167Ser) rs1987523408
NM_024422.6(DSC2):c.503C>G (p.Thr168Ser)
NM_024422.6(DSC2):c.517A>G (p.Ile173Val) rs766855728
NM_024422.6(DSC2):c.530G>C (p.Gly177Ala)
NM_024422.6(DSC2):c.545C>T (p.Pro182Leu)
NM_024422.6(DSC2):c.548G>A (p.Arg183Gln) rs554713834
NM_024422.6(DSC2):c.559T>C (p.Tyr187His) rs1251921612
NM_024422.6(DSC2):c.562G>A (p.Val188Met)
NM_024422.6(DSC2):c.574A>C (p.Thr192Pro) rs876657789
NM_024422.6(DSC2):c.575C>T (p.Thr192Ile) rs2144838831
NM_024422.6(DSC2):c.577_624del (p.Gly193_Ser208del) rs767081975
NM_024422.6(DSC2):c.584T>C (p.Leu195Ser) rs876657787
NM_024422.6(DSC2):c.585G>C (p.Leu195Phe) rs912124448
NM_024422.6(DSC2):c.590G>T (p.Cys197Phe) rs2144838763
NM_024422.6(DSC2):c.607C>T (p.Arg203Cys) rs142331975
NM_024422.6(DSC2):c.610G>A (p.Glu204Lys)
NM_024422.6(DSC2):c.619G>A (p.Glu207Lys) rs200634448
NM_024422.6(DSC2):c.621A>C (p.Glu207Asp) rs2144838603
NM_024422.6(DSC2):c.629A>C (p.Glu210Ala)
NM_024422.6(DSC2):c.62C>T (p.Thr21Ile)
NM_024422.6(DSC2):c.634A>G (p.Ile212Val)
NM_024422.6(DSC2):c.635T>C (p.Ile212Thr) rs1598587612
NM_024422.6(DSC2):c.643G>A (p.Ala215Thr) rs1435574320
NM_024422.6(DSC2):c.647C>T (p.Thr216Ile) rs780448272
NM_024422.6(DSC2):c.656A>T (p.Asp219Val) rs1047981208
NM_024422.6(DSC2):c.665C>T (p.Thr222Ile) rs1987453864
NM_024422.6(DSC2):c.667C>T (p.Pro223Ser) rs762722282
NM_024422.6(DSC2):c.69+5G>A
NM_024422.6(DSC2):c.70A>T (p.Ile24Phe)
NM_024422.6(DSC2):c.713A>G (p.Asp238Gly) rs2144833773
NM_024422.6(DSC2):c.715A>G (p.Asn239Asp) rs774551962
NM_024422.6(DSC2):c.719A>G (p.Tyr240Cys)
NM_024422.6(DSC2):c.721C>G (p.Pro241Ala) rs727505169
NM_024422.6(DSC2):c.721C>T (p.Pro241Ser) rs727505169
NM_024422.6(DSC2):c.734A>G (p.Glu245Gly) rs373201722
NM_024422.6(DSC2):c.739A>G (p.Thr247Ala) rs1567980622
NM_024422.6(DSC2):c.743_748del (p.Tyr248_Thr249del) rs776784065
NM_024422.6(DSC2):c.748T>A (p.Phe250Ile)
NM_024422.6(DSC2):c.748T>G (p.Phe250Val) rs111556656
NM_024422.6(DSC2):c.752C>A (p.Thr251Lys) rs1987446781
NM_024422.6(DSC2):c.754A>G (p.Ile252Val) rs751996698
NM_024422.6(DSC2):c.76A>G (p.Ile26Val)
NM_024422.6(DSC2):c.772G>A (p.Val258Met) rs1060502992
NM_024422.6(DSC2):c.774G>C (p.Val258=)
NM_024422.6(DSC2):c.775+3_775+6del
NM_024422.6(DSC2):c.776-3T>C rs752192642
NM_024422.6(DSC2):c.776G>A (p.Gly259Asp) rs1335645459
NM_024422.6(DSC2):c.779C>G (p.Thr260Ser)
NM_024422.6(DSC2):c.779C>T (p.Thr260Ile)
NM_024422.6(DSC2):c.782C>T (p.Thr261Ile)
NM_024422.6(DSC2):c.799G>C (p.Ala267Pro) rs966660258
NM_024422.6(DSC2):c.802A>C (p.Thr268Pro) rs201015785
NM_024422.6(DSC2):c.811G>A (p.Asp271Asn)
NM_024422.6(DSC2):c.812A>T (p.Asp271Val) rs1987412406
NM_024422.6(DSC2):c.813T>A (p.Asp271Glu)
NM_024422.6(DSC2):c.826A>G (p.Met276Val)
NM_024422.6(DSC2):c.832A>G (p.Thr278Ala)
NM_024422.6(DSC2):c.841A>C (p.Lys281Gln) rs373697870
NM_024422.6(DSC2):c.844T>C (p.Tyr282His) rs397517405
NM_024422.6(DSC2):c.847T>C (p.Ser283Pro)
NM_024422.6(DSC2):c.848C>G (p.Ser283Cys) rs2144830674
NM_024422.6(DSC2):c.853A>G (p.Ile285Val)
NM_024422.6(DSC2):c.865C>G (p.Pro289Ala) rs200802591
NM_024422.6(DSC2):c.869C>T (p.Pro290Leu)
NM_024422.6(DSC2):c.877A>G (p.Thr293Ala)
NM_024422.6(DSC2):c.928C>G (p.Gln310Glu)
NM_024422.6(DSC2):c.929A>G (p.Gln310Arg)
NM_024422.6(DSC2):c.938G>A (p.Arg313Lys)
NM_024422.6(DSC2):c.940G>A (p.Glu314Lys)
NM_024422.6(DSC2):c.942+5C>T rs2144830111
NM_024422.6(DSC2):c.943-3C>T
NM_024422.6(DSC2):c.943T>C (p.Leu315=) rs2144821693
NM_024422.6(DSC2):c.946A>T (p.Ile316Phe) rs1233598092
NM_024422.6(DSC2):c.959A>C (p.Gln320Pro) rs1481724064
NM_024422.6(DSC2):c.973G>A (p.Val325Ile)
NM_024422.6(DSC2):c.983T>A (p.Met328Lys) rs1987280810
NM_024422.6(DSC2):c.986A>G (p.Asp329Gly)

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.