ClinVar Miner

List of variants in gene DSP studied for Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8

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Gene type:
ClinVar version:
Total variants: 438
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HGVS dbSNP
NC_000006.11:g.(?_7570650)_(7586131_?)del
NM_004415.4(DSP):c.*9T>A rs11558732
NM_004415.4(DSP):c.1034A>G (p.Asp345Gly) rs753855393
NM_004415.4(DSP):c.1049A>G (p.Tyr350Cys)
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) rs780626687
NM_004415.4(DSP):c.1067C>T (p.Thr356Met) rs780626687
NM_004415.4(DSP):c.106G>A (p.Gly36Ser) rs1395509692
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr) rs141163578
NM_004415.4(DSP):c.1112A>C (p.His371Pro) rs397516912
NM_004415.4(DSP):c.1112A>G (p.His371Arg) rs397516912
NM_004415.4(DSP):c.1142T>C (p.Phe381Ser) rs1209991251
NM_004415.4(DSP):c.1155G>A (p.Ala385=) rs140488069
NM_004415.4(DSP):c.1162del (p.Thr388fs) rs1554106742
NM_004415.4(DSP):c.1182del (p.Leu395fs) rs1554106743
NM_004415.4(DSP):c.1225A>T (p.Met409Leu) rs890837021
NM_004415.4(DSP):c.1248A>G (p.Glu416=) rs1554106751
NM_004415.4(DSP):c.1254C>G (p.Ile418Met)
NM_004415.4(DSP):c.1267-2A>G rs1554106830
NM_004415.4(DSP):c.1274G>T (p.Arg425Leu) rs397516916
NM_004415.4(DSP):c.1282dup (p.Ile428fs) rs1561687796
NM_004415.4(DSP):c.1297C>T (p.Arg433Cys) rs767032884
NM_004415.4(DSP):c.1308G>C (p.Gln436His) rs1057522715
NM_004415.4(DSP):c.1323G>C (p.Lys441Asn) rs1037212969
NM_004415.4(DSP):c.1350_1351insTTA (p.Arg451_Asn452insLeu)
NM_004415.4(DSP):c.1352G>A (p.Arg451His) rs786204294
NM_004415.4(DSP):c.1356C>T (p.Asn452=) rs1187261274
NM_004415.4(DSP):c.1378C>G (p.Pro460Ala)
NM_004415.4(DSP):c.1382T>C (p.Ile461Thr) rs1554106853
NM_004415.4(DSP):c.1392A>C (p.Arg464Ser) rs1403332231
NM_004415.4(DSP):c.1411_1412insT (p.Gln471fs)
NM_004415.4(DSP):c.1419+5G>C rs1004508873
NM_004415.4(DSP):c.1469G>A (p.Arg490His) rs747815091
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961
NM_004415.4(DSP):c.1492C>G (p.Pro498Ala)
NM_004415.4(DSP):c.1544C>T (p.Pro515Leu) rs730880079
NM_004415.4(DSP):c.1556C>T (p.Ala519Val) rs1395532173
NM_004415.4(DSP):c.1558G>T (p.Val520Leu)
NM_004415.4(DSP):c.1562A>C (p.Asp521Ala) rs748790273
NM_004415.4(DSP):c.1564C>G (p.Leu522Val) rs1230995902
NM_004415.4(DSP):c.1568C>T (p.Ser523Phe)
NM_004415.4(DSP):c.1574+3A>G rs1231896749
NM_004415.4(DSP):c.1577T>C (p.Ile526Thr) rs1561689358
NM_004415.4(DSP):c.1582C>T (p.Gln528Ter) rs1267435790
NM_004415.4(DSP):c.1671A>G (p.Ile557Met) rs766505506
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581
NM_004415.4(DSP):c.170+5G>A rs727502996
NM_004415.4(DSP):c.170+5del rs1554104240
NM_004415.4(DSP):c.171-3dup rs1554105600
NM_004415.4(DSP):c.1715G>A (p.Arg572Gln)
NM_004415.4(DSP):c.1730T>C (p.Met577Thr)
NM_004415.4(DSP):c.1731G>A (p.Met577Ile) rs794728101
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp)
NM_004415.4(DSP):c.1831C>T (p.Gln611Ter)
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn) rs764951792
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter) rs876657638
NM_004415.4(DSP):c.1903+3del rs1064793548
NM_004415.4(DSP):c.1949A>G (p.Asn650Ser) rs145650440
NM_004415.4(DSP):c.194A>G (p.His65Arg) rs771190708
NM_004415.4(DSP):c.194A>T (p.His65Leu) rs771190708
NM_004415.4(DSP):c.1960G>A (p.Val654Ile)
NM_004415.4(DSP):c.1976_1987del (p.Arg659_Asp662del) rs1554107128
NM_004415.4(DSP):c.2023A>G (p.Ile675Val) rs142619902
NM_004415.4(DSP):c.2037A>G (p.Ile679Met) rs151049942
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe) rs1363445022
NM_004415.4(DSP):c.2075C>T (p.Pro692Leu) rs1561690890
NM_004415.4(DSP):c.2077C>G (p.Leu693Val)
NM_004415.4(DSP):c.2081C>T (p.Ala694Val) rs543446763
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe)
NM_004415.4(DSP):c.2134G>A (p.Val712Met) rs397516922
NM_004415.4(DSP):c.2164G>T (p.Val722Phe)
NM_004415.4(DSP):c.2199C>G (p.Phe733Leu)
NM_004415.4(DSP):c.2201G>A (p.Arg734Lys) rs1561692443
NM_004415.4(DSP):c.227A>G (p.Gln76Arg)
NM_004415.4(DSP):c.2308G>A (p.Val770Ile) rs1225927424
NM_004415.4(DSP):c.2323C>T (p.Gln775Ter)
NM_004415.4(DSP):c.2345A>G (p.Asp782Gly)
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys) rs755067397
NM_004415.4(DSP):c.2423G>A (p.Arg808His) rs372906646
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835
NM_004415.4(DSP):c.2437-1G>C rs1057517903
NM_004415.4(DSP):c.2437-7C>T rs1424310426
NM_004415.4(DSP):c.2437-9dup rs1239613725
NM_004415.4(DSP):c.2437A>G (p.Lys813Glu)
NM_004415.4(DSP):c.2443A>G (p.Lys815Glu) rs774638728
NM_004415.4(DSP):c.2472G>A (p.Leu824=) rs763798166
NM_004415.4(DSP):c.2482A>G (p.Met828Val) rs1338201926
NM_004415.4(DSP):c.2497C>T (p.Gln833Ter) rs1561693779
NM_004415.4(DSP):c.251G>A (p.Arg84Gln)
NM_004415.4(DSP):c.2546A>G (p.Tyr849Cys) rs778636665
NM_004415.4(DSP):c.2550_2552dup (p.Leu851dup) rs730880373
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln) rs111368396
NM_004415.4(DSP):c.2608A>T (p.Ile870Leu) rs1561693971
NM_004415.4(DSP):c.2617C>G (p.Gln873Glu) rs794728118
NM_004415.4(DSP):c.2622C>G (p.Ile874Met) rs751067479
NM_004415.4(DSP):c.2629A>C (p.Arg877=)
NM_004415.4(DSP):c.2644G>A (p.Glu882Lys) rs730880081
NM_004415.4(DSP):c.2675G>A (p.Arg892His) rs758592774
NM_004415.4(DSP):c.2680A>T (p.Asn894Tyr) rs1060500614
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro) rs1008407158
NM_004415.4(DSP):c.268C>T (p.Gln90Ter) rs886039343
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys) rs749051278
NM_004415.4(DSP):c.2725C>T (p.Gln909Ter) rs1561694696
NM_004415.4(DSP):c.273+10C>T rs56148603
NM_004415.4(DSP):c.273+5G>A rs200473206
NM_004415.4(DSP):c.2759C>T (p.Ser920Phe)
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237
NM_004415.4(DSP):c.2793+1G>T rs1554107741
NM_004415.4(DSP):c.2796C>T (p.Asn932=) rs368981849
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe) rs372922674
NM_004415.4(DSP):c.2809A>G (p.Ile937Val) rs1287292518
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.4(DSP):c.2894T>C (p.Leu965Pro)
NM_004415.4(DSP):c.2932A>G (p.Ile978Val) rs780823789
NM_004415.4(DSP):c.2933T>A (p.Ile978Lys) rs1060500615
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu) rs747580402
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe) rs746346559
NM_004415.4(DSP):c.2985G>A (p.Glu995=) rs768858918
NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp) rs772551736
NM_004415.4(DSP):c.3005G>A (p.Arg1002Gln) rs371234425
NM_004415.4(DSP):c.3046T>G (p.Phe1016Val) rs1561696335
NM_004415.4(DSP):c.3067A>C (p.Ser1023Arg) rs766388963
NM_004415.4(DSP):c.307C>T (p.Arg103Trp) rs375028675
NM_004415.4(DSP):c.3084G>A (p.Lys1028=)
NM_004415.4(DSP):c.3126_3127delinsT (p.Arg1042fs) rs1561696970
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln) rs374263890
NM_004415.4(DSP):c.3140C>T (p.Ala1047Val) rs397516931
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu) rs751361395
NM_004415.4(DSP):c.3241G>T (p.Glu1081Ter) rs1554108050
NM_004415.4(DSP):c.3259G>A (p.Glu1087Lys) rs1561697118
NM_004415.4(DSP):c.3277G>A (p.Ala1093Thr) rs1185986064
NM_004415.4(DSP):c.328T>C (p.Cys110Arg) rs1554105823
NM_004415.4(DSP):c.3290_3291dup (p.Asp1098Ter) rs1561697181
NM_004415.4(DSP):c.329_330delinsAA (p.Cys110Ter) rs1561680649
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser)
NM_004415.4(DSP):c.330_334del (p.Phe111fs)
NM_004415.4(DSP):c.3323A>G (p.Asn1108Ser) rs771948271
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln) rs768455823
NM_004415.4(DSP):c.3343A>G (p.Thr1115Ala)
NM_004415.4(DSP):c.3379T>C (p.Ser1127Pro)
NM_004415.4(DSP):c.344A>G (p.Asn115Ser) rs28763958
NM_004415.4(DSP):c.3458T>G (p.Leu1153Arg) rs1554108085
NM_004415.4(DSP):c.3492C>G (p.Ile1164Met) rs1561697488
NM_004415.4(DSP):c.3499_3501del (p.Lys1167del) rs1554108091
NM_004415.4(DSP):c.3512T>C (p.Ile1171Thr) rs762449180
NM_004415.4(DSP):c.3530T>A (p.Leu1177Gln) rs770489625
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) rs141508330
NM_004415.4(DSP):c.3565G>A (p.Glu1189Lys)
NM_004415.4(DSP):c.3574C>G (p.Leu1192Val) rs1554108118
NM_004415.4(DSP):c.35A>G (p.Asn12Ser)
NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys) rs202049575
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) rs151115778
NM_004415.4(DSP):c.3649A>T (p.Thr1217Ser) rs770484693
NM_004415.4(DSP):c.364G>A (p.Asp122Asn) rs756013600
NM_004415.4(DSP):c.3680A>G (p.Gln1227Arg) rs1458557680
NM_004415.4(DSP):c.3692A>C (p.Asp1231Ala)
NM_004415.4(DSP):c.3706A>G (p.Arg1236Gly) rs377098318
NM_004415.4(DSP):c.3715C>T (p.Leu1239Phe)
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) rs1554108152
NM_004415.4(DSP):c.3740G>A (p.Arg1247Gln) rs867067755
NM_004415.4(DSP):c.3760G>A (p.Val1254Ile) rs778448699
NM_004415.4(DSP):c.3770A>G (p.Asn1257Ser) rs1561697968
NM_004415.4(DSP):c.3774C>A (p.Asp1258Glu) rs748733750
NM_004415.4(DSP):c.3800G>A (p.Arg1267Gln) rs759698959
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln) rs876657795
NM_004415.4(DSP):c.3820G>A (p.Ala1274Thr) rs1285435504
NM_004415.4(DSP):c.3845C>T (p.Ser1282Phe) rs778780656
NM_004415.4(DSP):c.385C>T (p.Arg129Trp) rs777763456
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter) rs778178956
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val) rs376555665
NM_004415.4(DSP):c.3899A>G (p.Gln1300Arg) rs1060500619
NM_004415.4(DSP):c.38C>T (p.Thr13Ile)
NM_004415.4(DSP):c.3912G>C (p.Glu1304Asp) rs764189408
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476
NM_004415.4(DSP):c.4019G>A (p.Arg1340His) rs765247380
NM_004415.4(DSP):c.4022G>A (p.Arg1341His) rs112242645
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) rs1561698362
NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn) rs144465638
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile)
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys) rs141805096
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala) rs200745877
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln) rs201736018
NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter) rs140474226
NM_004415.4(DSP):c.4195A>G (p.Thr1399Ala) rs1561698547
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.422G>C (p.Arg141Thr) rs969373062
NM_004415.4(DSP):c.424C>T (p.Leu142Phe) rs373769397
NM_004415.4(DSP):c.4275G>T (p.Arg1425Ser)
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro) rs751972271
NM_004415.4(DSP):c.4357C>T (p.Gln1453Ter) rs1561698750
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) rs28763965
NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln) rs370063434
NM_004415.4(DSP):c.4387G>A (p.Val1463Ile) rs948230523
NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter) rs1236464864
NM_004415.4(DSP):c.4396A>G (p.Lys1466Glu) rs1561698838
NM_004415.4(DSP):c.4405C>T (p.Leu1469Phe) rs752121953
NM_004415.4(DSP):c.4423del (p.Thr1475fs)
NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg) rs746782582
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) rs727505037
NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu) rs794728122
NM_004415.4(DSP):c.4514C>T (p.Ala1505Val) rs375919492
NM_004415.4(DSP):c.4521A>T (p.Leu1507Phe) rs1060500611
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) rs397516940
NM_004415.4(DSP):c.4558A>T (p.Ser1520Cys) rs780953141
NM_004415.4(DSP):c.4565C>T (p.Thr1522Met) rs375150075
NM_004415.4(DSP):c.4573A>G (p.Ile1525Val) rs145796901
NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys) rs28763966
NM_004415.4(DSP):c.4649C>G (p.Thr1550Ser) rs928167721
NM_004415.4(DSP):c.4670C>T (p.Thr1557Met) rs747582734
NM_004415.4(DSP):c.4684T>C (p.Ser1562Pro) rs1394590334
NM_004415.4(DSP):c.4696C>G (p.Leu1566Val) rs201785897
NM_004415.4(DSP):c.4754C>T (p.Ser1585Leu) rs773622004
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg) rs200421954
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.4(DSP):c.479G>A (p.Arg160Gln) rs752941845
NM_004415.4(DSP):c.47G>C (p.Arg16Pro) rs752387234
NM_004415.4(DSP):c.4821G>A (p.Glu1607=) rs1030367156
NM_004415.4(DSP):c.4835T>C (p.Ile1612Thr)
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) rs1554108410
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976
NM_004415.4(DSP):c.4900C>T (p.Arg1634Trp) rs973569441
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln) rs144106775
NM_004415.4(DSP):c.4915G>A (p.Val1639Met) rs539587517
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) rs749730642
NM_004415.4(DSP):c.497C>T (p.Ser166Phe) rs1060500620
NM_004415.4(DSP):c.4994G>C (p.Arg1665Thr)
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln) rs768577891
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter) rs1554108431
NM_004415.4(DSP):c.5019A>T (p.Glu1673Asp) rs773113214
NM_004415.4(DSP):c.5035C>T (p.His1679Tyr) rs762561997
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr) rs757753880
NM_004415.4(DSP):c.5063C>T (p.Ala1688Val) rs372288373
NM_004415.4(DSP):c.50T>G (p.Met17Arg) rs559248100
NM_004415.4(DSP):c.5101A>G (p.Ile1701Val) rs794728154
NM_004415.4(DSP):c.5123C>G (p.Ser1708Cys) rs372452104
NM_004415.4(DSP):c.5153T>C (p.Leu1718Ser) rs1278859783
NM_004415.4(DSP):c.5161_5163GAA[2] (p.Glu1723del) rs730880091
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672
NM_004415.4(DSP):c.5173C>T (p.Arg1725Trp) rs200336897
NM_004415.4(DSP):c.517A>T (p.Thr173Ser)
NM_004415.4(DSP):c.5183G>A (p.Arg1728Lys)
NM_004415.4(DSP):c.5210del (p.Gly1737fs)
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) rs794728124
NM_004415.4(DSP):c.521G>T (p.Cys174Phe) rs377507763
NM_004415.4(DSP):c.5223G>C (p.Ala1741=) rs201984474
NM_004415.4(DSP):c.523C>T (p.Gln175Ter)
NM_004415.4(DSP):c.5242A>G (p.Thr1748Ala) rs1315952619
NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter) rs1554108477
NM_004415.4(DSP):c.5321_5322AG[3] (p.Glu1776fs) rs1394836623
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426
NM_004415.4(DSP):c.5327A>G (p.Glu1776Gly) rs1363204936
NM_004415.4(DSP):c.5353G>A (p.Glu1785Lys) rs528041468
NM_004415.4(DSP):c.5355G>A (p.Glu1785=) rs546610553
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) rs139673146
NM_004415.4(DSP):c.5412G>T (p.Gln1804His) rs779809935
NM_004415.4(DSP):c.5414G>T (p.Cys1805Phe) rs768161038
NM_004415.4(DSP):c.5441G>A (p.Ser1814Asn) rs730880085
NM_004415.4(DSP):c.5448G>C (p.Leu1816=) rs1270969886
NM_004415.4(DSP):c.5460dup (p.Val1821fs) rs1554108609
NM_004415.4(DSP):c.5513G>A (p.Arg1838His) rs377715841
NM_004415.4(DSP):c.5550_5557delinsGTG (p.Gln1851fs) rs1554108621
NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys) rs550818559
NM_004415.4(DSP):c.557A>G (p.His186Arg) rs1033990351
NM_004415.4(DSP):c.55C>A (p.Arg19Ser)
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys) rs144392839
NM_004415.4(DSP):c.5633T>C (p.Ile1878Thr)
NM_004415.4(DSP):c.5649G>A (p.Ser1883=) rs760974941
NM_004415.4(DSP):c.5665_5666GA[4] (p.Lys1892fs) rs1487814687
NM_004415.4(DSP):c.5671_*1792delinsAGAGAAGAACAGTCTT
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.5698G>A (p.Glu1900Lys) rs751447598
NM_004415.4(DSP):c.5707C>A (p.Gln1903Lys) rs794728103
NM_004415.4(DSP):c.5743C>T (p.Arg1915Cys) rs1461028383
NM_004415.4(DSP):c.5767G>C (p.Glu1923Gln) rs397516948
NM_004415.4(DSP):c.5771_5772CA[1] (p.Gln1925fs) rs1561701401
NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu) rs794728104
NM_004415.4(DSP):c.578G>T (p.Gly193Val) rs750350474
NM_004415.4(DSP):c.5794C>T (p.Arg1932Cys) rs748825632
NM_004415.4(DSP):c.5839T>C (p.Tyr1947His) rs767259019
NM_004415.4(DSP):c.5881G>A (p.Val1961Ile) rs368869076
NM_004415.4(DSP):c.5896C>G (p.Leu1966Val) rs1554108700
NM_004415.4(DSP):c.5912T>C (p.Leu1971Pro) rs397516950
NM_004415.4(DSP):c.5920A>G (p.Lys1974Glu) rs1561701683
NM_004415.4(DSP):c.5932A>G (p.Met1978Val) rs770077556
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn) rs759443302
NM_004415.4(DSP):c.5978A>G (p.Lys1993Arg) rs1561701766
NM_004415.4(DSP):c.5984T>C (p.Leu1995Ser) rs794728128
NM_004415.4(DSP):c.600G>A (p.Ala200=) rs748400605
NM_004415.4(DSP):c.6010G>T (p.Val2004Phe) rs764692193
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln) rs557263443
NM_004415.4(DSP):c.6062C>G (p.Ala2021Gly) rs760673242
NM_004415.4(DSP):c.607G>A (p.Asp203Asn) rs374100807
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) rs397514040
NM_004415.4(DSP):c.6112A>C (p.Lys2038Gln) rs185846631
NM_004415.4(DSP):c.61G>A (p.Glu21Lys) rs747956457
NM_004415.4(DSP):c.6247C>G (p.Arg2083Gly) rs370093129
NM_004415.4(DSP):c.6248G>A (p.Arg2083His) rs574637009
NM_004415.4(DSP):c.6269A>G (p.Glu2090Gly) rs755069593
NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile) rs587782942
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743
NM_004415.4(DSP):c.6345G>T (p.Leu2115Phe) rs766950975
NM_004415.4(DSP):c.634G>A (p.Ala212Thr) rs1028793473
NM_004415.4(DSP):c.6415A>G (p.Asn2139Asp) rs762434061
NM_004415.4(DSP):c.6416A>G (p.Asn2139Ser)
NM_004415.4(DSP):c.643G>A (p.Glu215Lys) rs148095061
NM_004415.4(DSP):c.6451C>T (p.Arg2151Trp) rs181608152
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln) rs367759510
NM_004415.4(DSP):c.6466dup (p.Arg2156fs) rs1554108859
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) rs146642551
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) rs141026028
NM_004415.4(DSP):c.6497G>A (p.Arg2166Gln) rs771692503
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs) rs1561702640
NM_004415.4(DSP):c.6505C>G (p.Gln2169Glu) rs1561702645
NM_004415.4(DSP):c.6510_6511insCT (p.Asn2171fs) rs794728148
NM_004415.4(DSP):c.6526G>A (p.Val2176Ile) rs746533703
NM_004415.4(DSP):c.6526G>C (p.Val2176Leu)
NM_004415.4(DSP):c.6565C>T (p.Arg2189Trp) rs767661570
NM_004415.4(DSP):c.6566G>A (p.Arg2189Gln) rs766933370
NM_004415.4(DSP):c.6581_6582CA[1] (p.His2195fs) rs1561702771
NM_004415.4(DSP):c.6587C>T (p.Thr2196Ile) rs958098310
NM_004415.4(DSP):c.663C>G (p.His221Gln) rs1561683654
NM_004415.4(DSP):c.664C>T (p.Arg222Trp) rs1233981969
NM_004415.4(DSP):c.665G>A (p.Arg222Gln) rs377749481
NM_004415.4(DSP):c.667G>A (p.Gly223Ser) rs200806163
NM_004415.4(DSP):c.668G>A (p.Gly223Asp)
NM_004415.4(DSP):c.6718C>A (p.Gln2240Lys)
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu) rs374262024
NM_004415.4(DSP):c.6723T>A (p.Ile2241=) rs1219037519
NM_004415.4(DSP):c.6765G>T (p.Gln2255His) rs766183320
NM_004415.4(DSP):c.6776G>T (p.Cys2259Phe)
NM_004415.4(DSP):c.6812A>C (p.Lys2271Thr) rs730880089
NM_004415.4(DSP):c.682A>G (p.Ile228Val) rs934038992
NM_004415.4(DSP):c.6853C>A (p.Pro2285Thr) rs377085222
NM_004415.4(DSP):c.687C>T (p.Gly229=) rs112877191
NM_004415.4(DSP):c.6895G>A (p.Gly2299Ser) rs1561703092
NM_004415.4(DSP):c.692A>G (p.Tyr231Cys) rs770210088
NM_004415.4(DSP):c.6953G>C (p.Arg2318Thr)
NM_004415.4(DSP):c.6956G>A (p.Gly2319Asp) rs762943687
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.7021G>A (p.Asp2341Asn) rs200314271
NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu) rs768837509
NM_004415.4(DSP):c.7068G>A (p.Lys2356=) rs762892811
NM_004415.4(DSP):c.7075del (p.Ile2359fs) rs1561703363
NM_004415.4(DSP):c.7077C>T (p.Ile2359=) rs966841386
NM_004415.4(DSP):c.7154G>A (p.Arg2385His)
NM_004415.4(DSP):c.7172C>T (p.Ala2391Val) rs879254351
NM_004415.4(DSP):c.7185C>T (p.Gly2395=) rs1296848321
NM_004415.4(DSP):c.7197G>A (p.Glu2399=) rs372594837
NM_004415.4(DSP):c.7240G>T (p.Gly2414Ter) rs1194358112
NM_004415.4(DSP):c.726+8T>C rs1554106248
NM_004415.4(DSP):c.7305G>C (p.Lys2435Asn) rs1554108998
NM_004415.4(DSP):c.7341A>C (p.Lys2447Asn)
NM_004415.4(DSP):c.7346A>C (p.Lys2449Thr)
NM_004415.4(DSP):c.7413A>G (p.Pro2471=) rs772161814
NM_004415.4(DSP):c.7465G>A (p.Asp2489Asn) rs760552749
NM_004415.4(DSP):c.7534G>T (p.Asp2512Tyr) rs772574987
NM_004415.4(DSP):c.7552G>A (p.Val2518Ile) rs757394666
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys) rs142078450
NM_004415.4(DSP):c.764A>T (p.Tyr255Phe)
NM_004415.4(DSP):c.7689_7694dup (p.Asn2565_Gly2566insLysLys) rs1554109062
NM_004415.4(DSP):c.7752C>T (p.Ser2584=) rs1554109092
NM_004415.4(DSP):c.778-2A>G rs113726158
NM_004415.4(DSP):c.778-4G>C rs1296932263
NM_004415.4(DSP):c.7787T>C (p.Ile2596Thr) rs770590535
NM_004415.4(DSP):c.780A>G (p.Lys260=) rs1554106489
NM_004415.4(DSP):c.7810A>G (p.Ile2604Val) rs1301635888
NM_004415.4(DSP):c.7855A>G (p.Ile2619Val) rs767630308
NM_004415.4(DSP):c.7861G>A (p.Ala2621Thr) rs1554109107
NM_004415.4(DSP):c.7864A>G (p.Ile2622Val) rs752616130
NM_004415.4(DSP):c.7872_7873CA[1] (p.Thr2625fs) rs1561704475
NM_004415.4(DSP):c.7885G>A (p.Glu2629Lys) rs756976948
NM_004415.4(DSP):c.78G>T (p.Leu26=) rs71559180
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp) rs771553674
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile) rs869025397
NM_004415.4(DSP):c.7937C>T (p.Thr2646Met)
NM_004415.4(DSP):c.794G>A (p.Arg265Lys) rs1064796438
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met) rs151309106
NM_004415.4(DSP):c.7997G>A (p.Gly2666Asp)
NM_004415.4(DSP):c.8014C>G (p.Gln2672Glu) rs1064793890
NM_004415.4(DSP):c.8015A>C (p.Gln2672Pro) rs1060500612
NM_004415.4(DSP):c.8077_8080del (p.Lys2693fs) rs879254352
NM_004415.4(DSP):c.8084T>A (p.Phe2695Tyr) rs764994940
NM_004415.4(DSP):c.8084T>G (p.Phe2695Cys)
NM_004415.4(DSP):c.8101G>A (p.Val2701Met) rs1561704928
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met) rs537588390
NM_004415.4(DSP):c.8122T>A (p.Ser2708Thr) rs924262414
NM_004415.4(DSP):c.8123C>T (p.Ser2708Leu)
NM_004415.4(DSP):c.8149T>C (p.Trp2717Arg) rs1554109176
NM_004415.4(DSP):c.8156del (p.Pro2719fs)
NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter) rs879254353
NM_004415.4(DSP):c.8173C>T (p.Arg2725Cys)
NM_004415.4(DSP):c.8175C>A (p.Arg2725=) rs11558731
NM_004415.4(DSP):c.8178C>T (p.Phe2726=) rs901698792
NM_004415.4(DSP):c.8188del (p.Gln2730fs) rs886038929
NM_004415.4(DSP):c.8201G>A (p.Gly2734Glu) rs1561705241
NM_004415.4(DSP):c.8210T>C (p.Val2737Ala) rs794728155
NM_004415.4(DSP):c.8216C>G (p.Pro2739Arg)
NM_004415.4(DSP):c.8257A>C (p.Lys2753Gln) rs1554109205
NM_004415.4(DSP):c.8275C>T (p.Arg2759Cys) rs148254632
NM_004415.4(DSP):c.8277C>T (p.Arg2759=) rs1248664648
NM_004415.4(DSP):c.8281G>A (p.Ala2761Thr) rs376751288
NM_004415.4(DSP):c.82T>G (p.Tyr28Asp) rs766454930
NM_004415.4(DSP):c.8309A>G (p.Tyr2770Cys) rs371020228
NM_004415.4(DSP):c.8390T>C (p.Ile2797Thr)
NM_004415.4(DSP):c.8394T>A (p.Thr2798=) rs775346694
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly) rs760215987
NM_004415.4(DSP):c.8433G>A (p.Lys2811=) rs753011095
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240
NM_004415.4(DSP):c.8472_8483del (p.2827_2830SGSR[4]) rs397516967
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser) rs369682599
NM_004415.4(DSP):c.8487_8498del (p.2827_2830SGSR[4]) rs727504704
NM_004415.4(DSP):c.8493G>A (p.Ser2831=) rs397516969
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys) rs753033333
NM_004415.4(DSP):c.8524C>T (p.Arg2842Cys) rs144850908
NM_004415.4(DSP):c.8556C>T (p.Ala2852=) rs1163538965
NM_004415.4(DSP):c.8583del (p.Tyr2862fs)
NM_004415.4(DSP):c.859A>C (p.Asn287His) rs1554106503
NM_004415.4(DSP):c.8602T>A (p.Ser2868Thr) rs1554109346
NM_004415.4(DSP):c.868_870GAG[5] (p.Glu293dup) rs1561685368
NM_004415.4(DSP):c.889G>A (p.Asp297Asn) rs201930322
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693
NM_004415.4(DSP):c.916G>A (p.Ala306Thr) rs368193211
NM_004415.4(DSP):c.922A>C (p.Lys308Gln) rs1060500617
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137
NM_004415.4(DSP):c.935_937del (p.Phe312del) rs794728138
NM_004415.4(DSP):c.939+1G>A rs727504443
NM_004415.4(DSP):c.943C>T (p.Arg315Cys) rs200476515
NM_004415.4(DSP):c.946A>G (p.Met316Val) rs201672777
NM_004415.4(DSP):c.955C>G (p.Leu319Val) rs777852039
NM_004415.4(DSP):c.961G>C (p.Val321Leu) rs143994626
NM_004415.4(DSP):c.967G>C (p.Glu323Gln) rs1057522287
NM_004415.4(DSP):c.976C>T (p.Leu326Phe) rs117961973
NM_004415.4(DSP):c.97G>A (p.Gly33Ser)
NM_004415.4(DSP):c.997A>G (p.Ser333Gly) rs773685575

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.