ClinVar Miner

List of variants studied for arrhythmogenic right ventricular dysplasia 11 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) rs1893963 0.18480
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874 0.10312
NM_024422.6(DSC2):c.*579T>C rs59914360 0.09730
NM_024422.6(DSC2):c.32A>G (p.Asn11Ser) rs868333 0.08191
NM_024422.6(DSC2):c.*1096T>C rs74749519 0.01657
NM_024422.6(DSC2):c.-298C>T rs149977713 0.01170
NM_024422.6(DSC2):c.*1604A>G rs188072930 0.01130
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913 0.00832
NM_024422.6(DSC2):c.*1283A>G rs141273986 0.00682
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_024422.6(DSC2):c.*1658G>A rs185216732 0.00455
NM_024422.6(DSC2):c.*1017C>T rs191171295 0.00357
NM_024422.6(DSC2):c.*46A>T rs77431927 0.00294
NM_024422.6(DSC2):c.*1475G>C rs180728052 0.00248
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920 0.00194
NM_024422.6(DSC2):c.-408T>C rs188926948 0.00141
NM_024422.6(DSC2):c.*764T>A rs539965523 0.00140
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
NM_024422.6(DSC2):c.*1541A>T rs571420655 0.00101
NM_024422.6(DSC2):c.*534A>G rs373266930 0.00083
NM_024422.6(DSC2):c.*1784G>T rs375290800 0.00073
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937 0.00070
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506 0.00056
NM_024422.6(DSC2):c.*472T>A rs555348907 0.00045
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
NM_024422.6(DSC2):c.*1158A>G rs749440073 0.00031
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777 0.00029
NM_024422.6(DSC2):c.*1927T>C rs532718510 0.00026
NM_024422.6(DSC2):c.857G>T (p.Gly286Val) rs199682735 0.00024
NM_024422.6(DSC2):c.*1628T>G rs767804423 0.00023
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_024422.6(DSC2):c.*1704G>T rs181853776 0.00022
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr) rs199918720 0.00022
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678 0.00021
NM_024422.6(DSC2):c.2019C>T (p.Thr673=) rs201469817 0.00015
NM_024422.6(DSC2):c.*2029A>T rs548041881 0.00014
NM_024422.6(DSC2):c.1788G>A (p.Ala596=) rs146161960 0.00013
NM_024422.6(DSC2):c.*1408A>G rs539091896 0.00011
NM_024422.6(DSC2):c.*753T>G rs940327323 0.00011
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys) rs762556795 0.00008
NM_024422.6(DSC2):c.2139G>A (p.Thr713=) rs112532429 0.00006
NM_024422.6(DSC2):c.2162C>T (p.Thr721Met) rs759513934 0.00006
NM_024422.6(DSC2):c.*1972A>C rs751949322 0.00005
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys) rs193922708 0.00005
NM_024422.6(DSC2):c.*1346T>A rs1029495207 0.00004
NM_024422.6(DSC2):c.*1444A>G rs886053684 0.00004
NM_024422.6(DSC2):c.-187C>T rs562293556 0.00004
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) rs139290300 0.00004
NM_024422.6(DSC2):c.408A>G (p.Arg136=) rs561653481 0.00004
NM_024422.6(DSC2):c.*864G>A rs746780312 0.00003
NM_024422.6(DSC2):c.-366A>G rs886053700 0.00003
NM_024422.6(DSC2):c.2250+12G>T rs201039801 0.00003
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys) rs769787593 0.00003
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NM_024422.6(DSC2):c.*1110A>G rs1358624129 0.00002
NM_024422.6(DSC2):c.*1356G>A rs1986629320 0.00002
NM_024422.6(DSC2):c.-155G>T rs886053699 0.00002
NM_024422.6(DSC2):c.1401G>A (p.Glu467=) rs977781359 0.00002
NM_024422.6(DSC2):c.*1401C>T rs886053685 0.00001
NM_024422.6(DSC2):c.-132C>A rs886053698 0.00001
NM_024422.6(DSC2):c.-381G>C rs886053701 0.00001
NM_024422.6(DSC2):c.14G>T (p.Arg5Leu) rs899009158 0.00001
NM_024422.6(DSC2):c.1910A>G (p.Tyr637Cys) rs758990451 0.00001
NM_024422.6(DSC2):c.1971C>A (p.Gly657=) rs397517396 0.00001
NM_024422.6(DSC2):c.2126-11T>C rs1283105269 0.00001
NM_024422.6(DSC2):c.2430G>A (p.Arg810=) rs755276378 0.00001
NM_024422.6(DSC2):c.2446G>A (p.Val816Met) rs377700521 0.00001
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929 0.00001
NM_024422.6(DSC2):c.517A>T (p.Ile173Leu) rs766855728 0.00001
NM_024422.6(DSC2):c.*1003T>C rs1986642855
NM_024422.6(DSC2):c.*1183G>A rs886053686
NM_024422.6(DSC2):c.*133G>A rs139923163
NM_024422.6(DSC2):c.*137A>G rs78190086
NM_024422.6(DSC2):c.*1453C>T rs886053683
NM_024422.6(DSC2):c.*1700T>C rs1986617619
NM_024422.6(DSC2):c.*1877T>G rs1986611103
NM_024422.6(DSC2):c.*422C>T rs769685892
NM_024422.6(DSC2):c.*692A>G rs1986657464
NM_024422.6(DSC2):c.*705G>A rs372988931
NM_024422.6(DSC2):c.*798T>C rs1208729636
NM_024422.6(DSC2):c.*926G>A rs1188292553
NM_024422.6(DSC2):c.-277T>A rs1567987522
NM_024422.6(DSC2):c.-365T>A rs775956339
NM_024422.6(DSC2):c.-409C>T rs1309020903
NM_024422.6(DSC2):c.-95C>G rs1386005114
NM_024422.6(DSC2):c.1077+9A>G rs369381870
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.1591A>G (p.Arg531Gly) rs727502981
NM_024422.6(DSC2):c.1661A>G (p.Gln554Arg) rs1987145211
NM_024422.6(DSC2):c.2162C>A (p.Thr721Lys) rs759513934
NM_024422.6(DSC2):c.2198C>T (p.Ala733Val) rs886053695
NM_024422.6(DSC2):c.2205G>T (p.Gln735His) rs886053694
NM_024422.6(DSC2):c.2319A>T (p.Gly773=) rs1986736902
NM_024422.6(DSC2):c.2367A>T (p.Gly789=) rs886053693
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.6(DSC2):c.2398G>T (p.Ala800Ser) rs565136635
NM_024422.6(DSC2):c.346C>G (p.Gln116Glu) rs1987619959
NM_024422.6(DSC2):c.370C>T (p.His124Tyr) rs371443698
NM_024422.6(DSC2):c.475-13A>G rs751631188
NM_024422.6(DSC2):c.588T>C (p.Tyr196=) rs1987518239

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