ClinVar Miner

List of variants reported as likely pathogenic for arrhythmogenic right ventricular dysplasia 11

Included ClinVar conditions (1):
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.943-1G>A rs796756333 0.00002
NM_024422.6(DSC2):c.34_35del (p.Gly12fs) rs1395367133 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NC_000018.10:g.(?_31068005)_(31070860_?)del
NC_000018.9:g.(?_28673502)_(28673626_?)dup
NM_024422.6(DSC2):c.1264-1G>A rs2144814453
NM_024422.6(DSC2):c.1520+1G>A
NM_024422.6(DSC2):c.154+2T>C rs747424133
NM_024422.6(DSC2):c.1664-1G>C rs776877367
NM_024422.6(DSC2):c.1888+1G>C rs1986950096
NM_024422.6(DSC2):c.1888+2T>C
NM_024422.6(DSC2):c.1920dup (p.Pro641fs) rs2144791672
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024422.6(DSC2):c.2152del (p.Ala718fs) rs760915248
NM_024422.6(DSC2):c.2250+1G>C rs1986794200
NM_024422.6(DSC2):c.2250+2T>C rs1064793731
NM_024422.6(DSC2):c.355-1G>A rs2144843645
NM_024422.6(DSC2):c.474+1G>T rs2144842978
NM_024422.6(DSC2):c.474+2T>A rs1430478589
NM_024422.6(DSC2):c.69+2T>C rs1987974114
NM_024422.6(DSC2):c.69+2T>G rs1987974114
NM_024422.6(DSC2):c.749T>C (p.Phe250Ser) rs746173561
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter) rs397517406
NM_024422.6(DSC2):c.880del (p.Leu294fs) rs1451144520

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