ClinVar Miner

List of variants in gene DSC2 studied for Arrhythmogenic right ventricular cardiomyopathy, type 11

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Gene type:
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Total variants: 198
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HGVS dbSNP
NC_000018.9:g.(?_28650672)_(28650836_?)del
NC_000018.9:g.(?_28654629)_(28673626_?)dup
NC_000018.9:g.(?_28673502)_(28673626_?)dup
NM_024422.6(DSC2):c.1028T>C (p.Ile343Thr) rs1567978329
NM_024422.6(DSC2):c.1029T>C (p.Ile343=) rs1555639124
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr) rs777688726
NM_024422.6(DSC2):c.1057C>A (p.Pro353Thr) rs999869714
NM_024422.6(DSC2):c.1070G>A (p.Arg357His) rs201201194
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951
NM_024422.6(DSC2):c.1078-6T>G rs1555639038
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly) rs368089478
NM_024422.6(DSC2):c.1103C>T (p.Thr368Ile) rs538663626
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874
NM_024422.6(DSC2):c.115G>A (p.Val39Ile) rs1447651355
NM_024422.6(DSC2):c.1192G>A (p.Gly398Ser) rs1060502991
NM_024422.6(DSC2):c.1204G>T (p.Gly402Cys)
NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu) rs560482778
NM_024422.6(DSC2):c.1264-5C>T rs183614856
NM_024422.6(DSC2):c.1269G>A (p.Leu423=) rs376049846
NM_024422.6(DSC2):c.1324C>T (p.Pro442Ser)
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.135C>T (p.Ala45=) rs749323567
NM_024422.6(DSC2):c.136G>A (p.Glu46Lys) rs180908546
NM_024422.6(DSC2):c.1371A>G (p.Thr457=) rs1555638728
NM_024422.6(DSC2):c.142C>T (p.Leu48Phe) rs769776739
NM_024422.6(DSC2):c.1430del (p.Thr477fs) rs397514041
NM_024422.6(DSC2):c.1436G>A (p.Arg479His) rs774641579
NM_024422.6(DSC2):c.1438A>C (p.Met480Leu)
NM_024422.6(DSC2):c.1452A>G (p.Ala484=) rs1555638690
NM_024422.6(DSC2):c.1456G>A (p.Val486Met)
NM_024422.6(DSC2):c.149G>A (p.Gly50Asp) rs397517391
NM_024422.6(DSC2):c.1520+8C>G rs372979057
NM_024422.6(DSC2):c.1521-7C>T rs374810953
NM_024422.6(DSC2):c.1537G>T (p.Asp513Tyr) rs373324195
NM_024422.6(DSC2):c.155-3C>T
NM_024422.6(DSC2):c.1552G>A (p.Val518Ile) rs397517394
NM_024422.6(DSC2):c.1552G>C (p.Val518Leu) rs397517394
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777
NM_024422.6(DSC2):c.1600G>A (p.Asp534Asn) rs1555638635
NM_024422.6(DSC2):c.1627G>A (p.Gly543Ser)
NM_024422.6(DSC2):c.1634A>G (p.Tyr545Cys)
NM_024422.6(DSC2):c.1638T>C (p.Asn546=) rs145987522
NM_024422.6(DSC2):c.1680G>A (p.Thr560=) rs567202599
NM_024422.6(DSC2):c.168G>C (p.Glu56Asp) rs1555640202
NM_024422.6(DSC2):c.1697T>C (p.Ile566Thr) rs1399123480
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562
NM_024422.6(DSC2):c.174T>C (p.Phe58=) rs150792047
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr) rs201856473
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val) rs140232809
NM_024422.6(DSC2):c.1776G>A (p.Ala592=) rs727502980
NM_024422.6(DSC2):c.1781T>C (p.Ile594Thr)
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335
NM_024422.6(DSC2):c.1788G>A (p.Ala596=) rs146161960
NM_024422.6(DSC2):c.1789G>T (p.Val597Phe) rs143040393
NM_024422.6(DSC2):c.1814G>A (p.Gly605Asp)
NM_024422.6(DSC2):c.182C>G (p.Ala61Gly)
NM_024422.6(DSC2):c.1844C>A (p.Ser615Tyr)
NM_024422.6(DSC2):c.1846A>T (p.Thr616Ser) rs753887142
NM_024422.6(DSC2):c.1875G>A (p.Leu625=) rs142594406
NM_024422.6(DSC2):c.1888+7A>G rs1555637977
NM_024422.6(DSC2):c.1901G>A (p.Arg634His) rs200475862
NM_024422.6(DSC2):c.1907C>T (p.Ser636Phe) rs764355417
NM_024422.6(DSC2):c.1910A>G (p.Tyr637Cys) rs758990451
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157
NM_024422.6(DSC2):c.1934C>T (p.Ser645Leu) rs1339580561
NM_024422.6(DSC2):c.1935A>G (p.Ser645=) rs878855084
NM_024422.6(DSC2):c.1957A>G (p.Arg653Gly)
NM_024422.6(DSC2):c.1960G>A (p.Asp654Asn)
NM_024422.6(DSC2):c.1981G>A (p.Val661Ile) rs781419827
NM_024422.6(DSC2):c.1996G>A (p.Val666Ile) rs758646191
NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser) rs869025387
NM_024422.6(DSC2):c.2019C>T (p.Thr673=) rs201469817
NM_024422.6(DSC2):c.2038C>A (p.Arg680Ser) rs757253682
NM_024422.6(DSC2):c.2047C>A (p.Pro683Thr) rs1386709734
NM_024422.6(DSC2):c.2054T>C (p.Ile685Thr)
NM_024422.6(DSC2):c.2059G>A (p.Gly687Ser) rs199616533
NM_024422.6(DSC2):c.2075T>C (p.Leu692Pro) rs1567972995
NM_024422.6(DSC2):c.2103G>A (p.Leu701=) rs141726394
NM_024422.6(DSC2):c.2104T>C (p.Leu702=) rs753742489
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024422.6(DSC2):c.2125+9T>G rs1555637547
NM_024422.6(DSC2):c.2126-7C>G rs936641955
NM_024422.6(DSC2):c.2126G>A (p.Cys709Tyr) rs145831682
NM_024422.6(DSC2):c.2147G>C (p.Cys716Ser)
NM_024422.6(DSC2):c.2162C>A (p.Thr721Lys) rs759513934
NM_024422.6(DSC2):c.2186del (p.Pro729fs)
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn) rs762055797
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019
NM_024422.6(DSC2):c.2200C>T (p.Gln734Ter)
NM_024422.6(DSC2):c.2206A>G (p.Asn736Asp)
NM_024422.6(DSC2):c.2218T>C (p.Ser740Pro) rs1555637438
NM_024422.6(DSC2):c.2226A>G (p.Thr742=) rs142807209
NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln) rs765067237
NM_024422.6(DSC2):c.2248G>A (p.Val750Met)
NM_024422.6(DSC2):c.2250+3A>G rs1555637433
NM_024422.6(DSC2):c.2258C>T (p.Ala753Val) rs1217851416
NM_024422.6(DSC2):c.2264G>T (p.Gly755Val) rs367990772
NM_024422.6(DSC2):c.2286C>T (p.Gly762=) rs549251334
NM_024422.6(DSC2):c.2287G>A (p.Ala763Thr) rs777004957
NM_024422.6(DSC2):c.2298G>C (p.Gln766His) rs139558481
NM_024422.6(DSC2):c.2314G>A (p.Val772Met) rs146029947
NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala) rs749174176
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) rs1893963
NM_024422.6(DSC2):c.2328C>G (p.Ile776Met) rs1789054
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) rs139290300
NM_024422.6(DSC2):c.2353G>A (p.Glu785Lys) rs752873618
NM_024422.6(DSC2):c.2365_2367GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.2366G>A (p.Gly789Glu)
NM_024422.6(DSC2):c.2369G>A (p.Gly790Glu) rs1555637241
NM_024422.6(DSC2):c.2379C>A (p.Thr793=) rs773813155
NM_024422.6(DSC2):c.2381C>T (p.Ser794Leu) rs1617629
NM_024422.6(DSC2):c.2384_2385inv (p.Glu795Val)
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu) rs61731921
NM_024422.6(DSC2):c.2402G>A (p.Gly801Asp) rs1215462499
NM_024422.6(DSC2):c.2416C>T (p.Leu806=) rs758409608
NM_024422.6(DSC2):c.2430G>A (p.Arg810=) rs755276378
NM_024422.6(DSC2):c.2437C>T (p.His813Tyr) rs1402474064
NM_024422.6(DSC2):c.2463C>A (p.Tyr821Ter) rs1567971476
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu) rs143413607
NM_024422.6(DSC2):c.2472G>A (p.Ser824=) rs374348925
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803
NM_024422.6(DSC2):c.2498G>A (p.Arg833His) rs370325533
NM_024422.6(DSC2):c.2509-9C>T rs773056962
NM_024422.6(DSC2):c.2578_2581GAAG[3] (p.Gly863fs)
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895
NM_024422.6(DSC2):c.2591C>T (p.Ser864Leu) rs202031070
NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe) rs141873745
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter) rs727504823
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly) rs143342988
NM_024422.6(DSC2):c.266C>T (p.Ser89Leu) rs141379407
NM_024422.6(DSC2):c.2683G>A (p.Ala895Thr) rs1060502988
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506
NM_024422.6(DSC2):c.286A>G (p.Ile96Val) rs772447450
NM_024422.6(DSC2):c.295T>A (p.Ser99Thr)
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929
NM_024422.6(DSC2):c.348A>G (p.Gln116=) rs137941742
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913
NM_024422.6(DSC2):c.355-3G>T rs975997446
NM_024422.6(DSC2):c.360A>G (p.Leu120=) rs375772629
NM_024422.6(DSC2):c.363G>T (p.Lys121Asn)
NM_024422.6(DSC2):c.370C>T (p.His124Tyr) rs371443698
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys) rs727504578
NM_024422.6(DSC2):c.395G>A (p.Arg132His) rs375410133
NM_024422.6(DSC2):c.408A>G (p.Arg136=) rs561653481
NM_024422.6(DSC2):c.429G>C (p.Ser143=) rs542638302
NM_024422.6(DSC2):c.488C>T (p.Thr163Met)
NM_024422.6(DSC2):c.489G>A (p.Thr163=) rs752952811
NM_024422.6(DSC2):c.490G>A (p.Ala164Thr) rs978623916
NM_024422.6(DSC2):c.525T>C (p.Gly175=) rs541223771
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp) rs368082152
NM_024422.6(DSC2):c.548G>A (p.Arg183Gln) rs554713834
NM_024422.6(DSC2):c.577_624del (p.Gly193_Ser208del) rs767081975
NM_024422.6(DSC2):c.585G>A (p.Leu195=) rs912124448
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys) rs769787593
NM_024422.6(DSC2):c.596G>A (p.Arg199His)
NM_024422.6(DSC2):c.601G>A (p.Val201Ile) rs202058544
NM_024422.6(DSC2):c.617A>G (p.Tyr206Cys)
NM_024422.6(DSC2):c.619G>A (p.Glu207Lys) rs200634448
NM_024422.6(DSC2):c.630+8C>T rs201147144
NM_024422.6(DSC2):c.631-2A>G rs397514042
NM_024422.6(DSC2):c.631-3C>T
NM_024422.6(DSC2):c.635T>C (p.Ile212Thr)
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter) rs145476705
NM_024422.6(DSC2):c.70-11del rs572309510
NM_024422.6(DSC2):c.72C>A (p.Ile24=) rs757826575
NM_024422.6(DSC2):c.734A>C (p.Glu245Ala) rs373201722
NM_024422.6(DSC2):c.739A>G (p.Thr247Ala) rs1567980622
NM_024422.6(DSC2):c.744T>C (p.Tyr248=) rs756495155
NM_024422.6(DSC2):c.748T>G (p.Phe250Val) rs111556656
NM_024422.6(DSC2):c.749T>C (p.Phe250Ser) rs746173561
NM_024422.6(DSC2):c.750T>C (p.Phe250=) rs781667894
NM_024422.6(DSC2):c.754A>G (p.Ile252Val) rs751996698
NM_024422.6(DSC2):c.772G>A (p.Val258Met) rs1060502992
NM_024422.6(DSC2):c.777C>T (p.Gly259=) rs565694087
NM_024422.6(DSC2):c.802A>C (p.Thr268Pro) rs201015785
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785
NM_024422.6(DSC2):c.818C>T (p.Pro273Leu) rs864622708
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr) rs199918720
NM_024422.6(DSC2):c.857G>T (p.Gly286Val) rs199682735
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser) rs200802591
NM_024422.6(DSC2):c.870A>G (p.Pro290=) rs142653119
NM_024422.6(DSC2):c.874C>T (p.Pro292Ser)
NM_024422.6(DSC2):c.880C>A (p.Leu294Ile)
NM_024422.6(DSC2):c.882dup (p.Phe295fs) rs1060502989
NM_024422.6(DSC2):c.901A>G (p.Thr301Ala) rs576466497
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678
NM_024422.6(DSC2):c.927T>C (p.Ser309=) rs1434821927
NM_024422.6(DSC2):c.942+13_942+15dup rs5823783
NM_024422.6(DSC2):c.943-1G>A rs796756333
NM_024422.6(DSC2):c.951C>T (p.Asp317=) rs749810775
NM_024422.6(DSC2):c.977A>C (p.Gln326Pro) rs397517409
NM_024422.6(DSC2):c.996T>G (p.Tyr332Ter) rs1555639134

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