ClinVar Miner

List of variants in gene DSC2 reported as pathogenic for familial isolated arrhythmogenic right ventricular dysplasia

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter) rs145476705 0.00003
NM_024422.6(DSC2):c.943-1G>A rs796756333 0.00002
NM_024422.6(DSC2):c.1123C>T (p.Arg375Ter) rs794728075 0.00001
NM_024422.6(DSC2):c.2084G>A (p.Trp695Ter) rs963715928 0.00001
NM_024422.6(DSC2):c.473del (p.Gln158fs) rs1064795963 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NC_000018.10:g.(?_31070706)_(31070870_?)del
NC_000018.9:g.(?_28654629)_(28673626_?)dup
NC_000018.9:g.(?_28673522)_(28673606_?)del
NC_000018.9:g.(?_28681846)_(28681934_?)del
NM_024422.6(DSC2):c.1023dup (p.Ile342fs) rs768389941
NM_024422.6(DSC2):c.1053_1059del (p.His351fs) rs1373100329
NM_024422.6(DSC2):c.110_114del (p.Leu37fs) rs2144850365
NM_024422.6(DSC2):c.1187T>G (p.Leu396Ter)
NM_024422.6(DSC2):c.1187dup (p.Leu396fs)
NM_024422.6(DSC2):c.123del (p.Lys42fs) rs1598592533
NM_024422.6(DSC2):c.1260del (p.Lys421fs)
NM_024422.6(DSC2):c.1314del (p.Asn439fs)
NM_024422.6(DSC2):c.133del (p.Ala45fs)
NM_024422.6(DSC2):c.1352C>G (p.Ser451Ter) rs794728068
NM_024422.6(DSC2):c.1370_1371dup (p.Val458fs) rs1987170019
NM_024422.6(DSC2):c.1430del (p.Thr477fs) rs397514041
NM_024422.6(DSC2):c.1486del (p.Tyr496fs) rs1987161799
NM_024422.6(DSC2):c.1545del (p.Trp517fs)
NM_024422.6(DSC2):c.1571del (p.Thr524fs) rs2144812824
NM_024422.6(DSC2):c.1625del (p.Asn542fs)
NM_024422.6(DSC2):c.1660C>T (p.Gln554Ter) rs878853170
NM_024422.6(DSC2):c.1720_1733del (p.Asn573_Ser574insTer) rs2144800227
NM_024422.6(DSC2):c.1777G>T (p.Glu593Ter)
NM_024422.6(DSC2):c.1831dup (p.Ser611fs)
NM_024422.6(DSC2):c.1840_1841dup (p.Ser614fs) rs2144799555
NM_024422.6(DSC2):c.1858C>T (p.Gln620Ter) rs1986951516
NM_024422.6(DSC2):c.1932dup (p.Ser645fs) rs1448467079
NM_024422.6(DSC2):c.1939del (p.Tyr646_Val647insTer) rs1986844120
NM_024422.6(DSC2):c.2094del (p.Ala699fs)
NM_024422.6(DSC2):c.2112_2116del (p.Phe708fs) rs1555637555
NM_024422.6(DSC2):c.2136del (p.Phe712fs)
NM_024422.6(DSC2):c.2136dup (p.Thr713fs) rs2144788632
NM_024422.6(DSC2):c.2186del (p.Pro729fs) rs1598572298
NM_024422.6(DSC2):c.2200C>T (p.Gln734Ter) rs769022411
NM_024422.6(DSC2):c.2203C>T (p.Gln735Ter)
NM_024422.6(DSC2):c.2307T>A (p.Cys769Ter)
NM_024422.6(DSC2):c.2431G>T (p.Gly811Ter)
NM_024422.6(DSC2):c.2463C>A (p.Tyr821Ter) rs1567971476
NM_024422.6(DSC2):c.268G>T (p.Glu90Ter) rs1987624232
NM_024422.6(DSC2):c.354+3A>G
NM_024422.6(DSC2):c.379G>T (p.Glu127Ter)
NM_024422.6(DSC2):c.685del (p.Pro228_Leu229insTer) rs1209546374
NM_024422.6(DSC2):c.686del (p.Leu229fs)
NM_024422.6(DSC2):c.729del (p.Phe243fs) rs2144833653
NM_024422.6(DSC2):c.744T>A (p.Tyr248Ter)
NM_024422.6(DSC2):c.77del (p.Ile26fs) rs1555640399
NM_024422.6(DSC2):c.845del (p.Tyr282fs)
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter) rs397517406
NM_024422.6(DSC2):c.882dup (p.Phe295fs) rs1060502989
NM_024422.6(DSC2):c.929delinsTT (p.Gln310fs)
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) rs397517408
NM_024422.6(DSC2):c.991C>T (p.Gln331Ter)
NM_024422.6(DSC2):c.996T>G (p.Tyr332Ter) rs1555639134

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