ClinVar Miner

List of variants studied for arrhythmogenic right ventricular dysplasia 10 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 182
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HGVS dbSNP
NM_001943.3(DSG2):c.1072G>A (p.Ala358Thr) rs758537946
NM_001943.3(DSG2):c.1089G>A (p.Ser363=) rs372598337
NM_001943.3(DSG2):c.1130T>A (p.Val377Asp) rs794728085
NM_001943.3(DSG2):c.1397C>T (p.Thr466Ile) rs769137357
NM_001943.3(DSG2):c.1592T>G (p.Phe531Cys) rs200484060
NM_001943.3(DSG2):c.1643G>A (p.Arg548His) rs551034751
NM_001943.3(DSG2):c.1885C>T (p.Pro629Ser) rs200804638
NM_001943.3(DSG2):c.1912G>A (p.Gly638Arg) rs201564919
NM_001943.3(DSG2):c.2074A>G (p.Lys692Glu) rs997161591
NM_001943.3(DSG2):c.2275G>A (p.Gly759Arg) rs765793636
NM_001943.3(DSG2):c.2360A>G (p.Asp787Gly) rs369868954
NM_001943.3(DSG2):c.2434G>A (p.Gly812Ser) rs121913010
NM_001943.3(DSG2):c.2649_2651delCTC (p.Ser884del) rs794728095
NM_001943.3(DSG2):c.2703A>G (p.Lys901=) rs113591687
NM_001943.3(DSG2):c.2780C>T (p.Pro927Leu) rs146402368
NM_001943.3(DSG2):c.2923delG (p.Val975Terfs) rs794728084
NM_001943.3(DSG2):c.3167C>T (p.Thr1056Ile) rs767538450
NM_001943.3(DSG2):c.3353C>T (p.Ser1118Phe) rs368703304
NM_001943.3(DSG2):c.437G>T (p.Arg146Leu) rs113451409
NM_001943.3(DSG2):c.470C>T (p.Pro157Leu) rs587782938
NM_001943.3(DSG2):c.523+2T>C rs397516709
NM_001943.3(DSG2):c.545A>G (p.Asn182Ser) rs368512832
NM_001943.3(DSG2):c.716T>C (p.Val239Ala) rs200997703
NM_001943.3(DSG2):c.829-4G>A rs376424003
NM_001943.3(DSG2):c.875G>A (p.Arg292His) rs185821167
NM_001943.3(DSG2):c.875G>T (p.Arg292Leu) rs185821167
NM_001943.3(DSG2):c.880A>G (p.Lys294Glu) rs752432726
NM_001943.3(DSG2):c.889G>A (p.Asp297Asn) rs751012696
NM_001943.4(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.4(DSG2):c.1006C>T (p.Leu336Phe) rs1060502864
NM_001943.4(DSG2):c.1038G>A (p.Lys346=) rs1555627111
NM_001943.4(DSG2):c.1051A>G (p.Ser351Gly) rs139326669
NM_001943.4(DSG2):c.1109C>G (p.Pro370Arg) rs1555627121
NM_001943.4(DSG2):c.1110T>C (p.Pro370=) rs772805008
NM_001943.4(DSG2):c.1174G>A (p.Val392Ile) rs193922639
NM_001943.4(DSG2):c.1256A>T (p.Asp419Val) rs760135423
NM_001943.4(DSG2):c.1277C>T (p.Ala426Val) rs1555627137
NM_001943.4(DSG2):c.1280+10_1280+11delAG rs876657791
NM_001943.4(DSG2):c.1280+8A>G rs377662063
NM_001943.4(DSG2):c.1281-5G>T rs1280409009
NM_001943.4(DSG2):c.1284T>C (p.Tyr428=) rs202095254
NM_001943.4(DSG2):c.1297G>A (p.Asp433Asn) rs938919152
NM_001943.4(DSG2):c.1303G>A (p.Asp435Asn) rs370509593
NM_001943.4(DSG2):c.1397C>G (p.Thr466Ser) rs769137357
NM_001943.4(DSG2):c.145C>A (p.Arg49Ser) rs762526848
NM_001943.4(DSG2):c.1478A>G (p.Asn493Ser) rs375679311
NM_001943.4(DSG2):c.1479C>T (p.Asn493=) rs778100657
NM_001943.4(DSG2):c.147C>T (p.Arg49=) rs531036279
NM_001943.4(DSG2):c.1487dupG (p.Cys496Trpfs) rs730880347
NM_001943.4(DSG2):c.1489C>A (p.Pro497Thr)
NM_001943.4(DSG2):c.1491C>T (p.Pro497=) rs587780928
NM_001943.4(DSG2):c.1525G>A (p.Asp509Asn) rs753406968
NM_001943.4(DSG2):c.1543G>A (p.Val515Ile) rs2230235
NM_001943.4(DSG2):c.1550C>T (p.Ala517Val) rs200509948
NM_001943.4(DSG2):c.1562A>G (p.Asp521Gly) rs730880077
NM_001943.4(DSG2):c.1597G>A (p.Val533Ile) rs199761749
NM_001943.4(DSG2):c.159C>T (p.Thr53=) rs959566645
NM_001943.4(DSG2):c.15G>C (p.Pro5=) rs772663614
NM_001943.4(DSG2):c.1642C>T (p.Arg548Cys) rs550400909
NM_001943.4(DSG2):c.1652-8C>T rs770497608
NM_001943.4(DSG2):c.1656C>T (p.Thr552=) rs756426150
NM_001943.4(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.4(DSG2):c.1674A>C (p.Gln558His) rs1019401099
NM_001943.4(DSG2):c.1676G>C (p.Ser559Thr)
NM_001943.4(DSG2):c.1688T>G (p.Leu563Arg) rs780469370
NM_001943.4(DSG2):c.1750C>T (p.Gln584Ter) rs794728086
NM_001943.4(DSG2):c.1752_1784del (p.Gln584_Leu594del)
NM_001943.4(DSG2):c.1781T>C (p.Leu594Pro) rs199681901
NM_001943.4(DSG2):c.1837G>A (p.Ala613Thr) rs368257724
NM_001943.4(DSG2):c.1848G>T (p.Ala616=) rs372349945
NM_001943.4(DSG2):c.1851C>T (p.Leu617=) rs202057770
NM_001943.4(DSG2):c.1875G>C (p.Leu625=) rs35743180
NM_001943.4(DSG2):c.1880-2A>G rs397514038
NM_001943.4(DSG2):c.1911C>T (p.Cys637=) rs201654341
NM_001943.4(DSG2):c.1914A>G (p.Gly638=) rs200395484
NM_001943.4(DSG2):c.1920C>T (p.Gly640=) rs775642244
NM_001943.4(DSG2):c.1952T>C (p.Ile651Thr)
NM_001943.4(DSG2):c.2006T>A (p.Val669Glu)
NM_001943.4(DSG2):c.2033G>C (p.Gly678Ala) rs372494397
NM_001943.4(DSG2):c.2079A>C (p.Glu693Asp)
NM_001943.4(DSG2):c.2085G>A (p.Thr695=) rs554396523
NM_001943.4(DSG2):c.2085G>C (p.Thr695=) rs554396523
NM_001943.4(DSG2):c.2096G>T (p.Ser699Ile) rs727504770
NM_001943.4(DSG2):c.210T>C (p.Ile70=) rs202202636
NM_001943.4(DSG2):c.217-5G>T rs80073511
NM_001943.4(DSG2):c.2192A>C (p.Gln731Pro) rs202063433
NM_001943.4(DSG2):c.2211C>T (p.Gly737=) rs74578148
NM_001943.4(DSG2):c.221A>G (p.His74Arg) rs201855245
NM_001943.4(DSG2):c.2257del (p.Ala753Leufs)
NM_001943.4(DSG2):c.2305G>A (p.Glu769Lys) rs371146201
NM_001943.4(DSG2):c.2328C>A (p.Phe776Leu) rs771104668
NM_001943.4(DSG2):c.2334+9G>A rs776516070
NM_001943.4(DSG2):c.2368C>T (p.His790Tyr) rs114544564
NM_001943.4(DSG2):c.2426C>T (p.Ala809Val)
NM_001943.4(DSG2):c.2428T>A (p.Ser810Thr) rs1555628166
NM_001943.4(DSG2):c.2470C>T (p.Arg824Cys) rs201845396
NM_001943.4(DSG2):c.2484T>C (p.Asp828=) rs201051252
NM_001943.4(DSG2):c.2485T>A (p.Leu829Met) rs968817397
NM_001943.4(DSG2):c.2506C>G (p.Leu836Val)
NM_001943.4(DSG2):c.2533del (p.Ile845Terfs)
NM_001943.4(DSG2):c.2536G>T (p.Asp846Tyr) rs1226243364
NM_001943.4(DSG2):c.2569C>T (p.Pro857Ser)
NM_001943.4(DSG2):c.2586T>C (p.Ser862=) rs78310842
NM_001943.4(DSG2):c.2587A>C (p.Met863Leu) rs16962093
NM_001943.4(DSG2):c.2643C>T (p.Thr881=) rs180695545
NM_001943.4(DSG2):c.2645A>C (p.Tyr882Ser) rs1555628211
NM_001943.4(DSG2):c.2647T>C (p.Ser883Pro) rs34417028
NM_001943.4(DSG2):c.266A>G (p.Tyr89Cys) rs2230232
NM_001943.4(DSG2):c.269C>T (p.Thr90Ile) rs772744115
NM_001943.4(DSG2):c.2708C>T (p.Thr903Ile) rs34065672
NM_001943.4(DSG2):c.2751G>A (p.Ala917=) rs763063602
NM_001943.4(DSG2):c.2759T>G (p.Val920Gly) rs142841727
NM_001943.4(DSG2):c.2761_2764dup (p.Thr922Serfs)
NM_001943.4(DSG2):c.2817del (p.Tyr940Metfs)
NM_001943.4(DSG2):c.2886T>G (p.Ile962Met) rs79229040
NM_001943.4(DSG2):c.2897G>C (p.Arg966Thr) rs764925318
NM_001943.4(DSG2):c.2913T>G (p.Ala971=) rs200793530
NM_001943.4(DSG2):c.2974A>G (p.Ile992Val) rs933743259
NM_001943.4(DSG2):c.2987G>A (p.Gly996Glu)
NM_001943.4(DSG2):c.2997G>A (p.Ser999=) rs763888499
NM_001943.4(DSG2):c.3040G>A (p.Val1014Ile) rs200830807
NM_001943.4(DSG2):c.3059_3062delAGAG (p.Glu1020Alafs) rs397516706
NM_001943.4(DSG2):c.3061_3062delAG (p.Ser1021Leufs) rs397516706
NM_001943.4(DSG2):c.3082G>A (p.Gly1028Ser) rs150864240
NM_001943.4(DSG2):c.3118G>A (p.Val1040Ile) rs201966605
NM_001943.4(DSG2):c.3135A>C (p.Thr1045=) rs8095704
NM_001943.4(DSG2):c.3209C>T (p.Thr1070Met) rs149617776
NM_001943.4(DSG2):c.3210G>A (p.Thr1070=) rs771104963
NM_001943.4(DSG2):c.3228G>A (p.Val1076=) rs373966845
NM_001943.4(DSG2):c.3243C>T (p.Val1081=) rs11542379
NM_001943.4(DSG2):c.3244C>G (p.Pro1082Ala) rs191300661
NM_001943.4(DSG2):c.3266G>A (p.Gly1089Asp) rs200264407
NM_001943.4(DSG2):c.3281G>A (p.Gly1094Asp)
NM_001943.4(DSG2):c.3281_3283delGTCinsTTA (p.Gly1094_His1095delinsValAsn) rs386802145
NM_001943.4(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489
NM_001943.4(DSG2):c.3336T>G (p.Thr1112=) rs1555628388
NM_001943.4(DSG2):c.3340C>T (p.Gln1114Ter) rs776078563
NM_001943.4(DSG2):c.3354C>G (p.Ser1118=) rs879254344
NM_001943.4(DSG2):c.356G>A (p.Arg119Gln) rs532305326
NM_001943.4(DSG2):c.391G>A (p.Ala131Thr) rs373542380
NM_001943.4(DSG2):c.42C>T (p.Leu14=) rs1555669691
NM_001943.4(DSG2):c.44T>A (p.Leu15Gln) rs372174546
NM_001943.4(DSG2):c.45+1G>A
NM_001943.4(DSG2):c.45+9C>G rs376573409
NM_001943.4(DSG2):c.45+9C>T rs376573409
NM_001943.4(DSG2):c.473T>G (p.Val158Gly) rs191143292
NM_001943.4(DSG2):c.513G>T (p.Leu171Phe)
NM_001943.4(DSG2):c.523+1G>A rs553299589
NM_001943.4(DSG2):c.523+23_523+24delTT rs77324780
NM_001943.4(DSG2):c.523+6A>G rs769467654
NM_001943.4(DSG2):c.524-9T>A rs11876289
NM_001943.4(DSG2):c.536T>C (p.Met179Thr) rs753854046
NM_001943.4(DSG2):c.572C>G (p.Thr191Ser) rs1555671315
NM_001943.4(DSG2):c.573C>G (p.Thr191=) rs769514389
NM_001943.4(DSG2):c.57C>T (p.Asn19=) rs587780925
NM_001943.4(DSG2):c.581C>T (p.Ser194Leu) rs374875442
NM_001943.4(DSG2):c.593A>G (p.Tyr198Cys) rs786204291
NM_001943.4(DSG2):c.621_626delTCCTCC (p.Tyr207_Lys543delinsTer) rs1555671331
NM_001943.4(DSG2):c.670A>G (p.Ser224Gly) rs1060502863
NM_001943.4(DSG2):c.677C>T (p.Thr226Ile) rs751490881
NM_001943.4(DSG2):c.690+1G>A rs750176752
NM_001943.4(DSG2):c.691-1G>A rs1555671441
NM_001943.4(DSG2):c.6G>A (p.Ala2=) rs368809971
NM_001943.4(DSG2):c.706A>G (p.Thr236Ala) rs727502985
NM_001943.4(DSG2):c.734A>G (p.Asn245Ser)
NM_001943.4(DSG2):c.772G>T (p.Val258Phe) rs1060502865
NM_001943.4(DSG2):c.782G>A (p.Arg261His) rs727502984
NM_001943.4(DSG2):c.783T>A (p.Arg261=) rs369869320
NM_001943.4(DSG2):c.795C>G (p.Val265=) rs771324254
NM_001943.4(DSG2):c.829_840delCTTGAAGGGATG (p.Leu277_Met280del) rs794728093
NM_001943.4(DSG2):c.852T>C (p.Asn284=) rs62095193
NM_001943.4(DSG2):c.874C>T (p.Arg292Cys) rs770921270
NM_001943.4(DSG2):c.908C>T (p.Ser303Phe) rs757792714
NM_001943.4(DSG2):c.915T>C (p.Asn305=) rs1484918582
NM_001943.4(DSG2):c.942A>G (p.Ser314=) rs780279875
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val) rs375527314
NM_001943.5(DSG2):c.2004G>A (p.Val668=) rs773645222
NM_001943.5(DSG2):c.2405A>G (p.Glu802Gly) rs763315024
NM_001943.5(DSG2):c.273A>G (p.Gly91=) rs376944801
NM_001943.5(DSG2):c.2906C>T (p.Ala969Val) rs373598034
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) rs539821357
NM_001943.5(DSG2):c.445G>A (p.Val149Ile) rs372606274

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