ClinVar Miner

List of variants in gene DSP reported as pathogenic for Arrhythmogenic right ventricular cardiomyopathy, type 8

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Gene type:
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Total variants: 15
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NM_004415.4(DSP):c.1058_1059CT[1] (p.Leu354fs) rs1249913357
NM_004415.4(DSP):c.1883del (p.Gly628fs) rs1060500613
NM_004415.4(DSP):c.2602C>T (p.Gln868Ter) rs1060500618
NM_004415.4(DSP):c.2947_2948del (p.Thr983fs) rs1554107839
NM_004415.4(DSP):c.3044_3047dup (p.Phe1016fs) rs1554107916
NM_004415.4(DSP):c.3348T>A (p.Tyr1116Ter) rs772646601
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs) rs1554108287
NM_004415.4(DSP):c.465del (p.Ile156fs) rs1554105911
NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter) rs1060500610
NM_004415.4(DSP):c.5460_5466del (p.Val1821fs) rs1554108610
NM_004415.4(DSP):c.5745dup (p.Lys1916Ter) rs1060500607
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) rs869025395
NM_004415.4(DSP):c.8501G>A (p.Arg2834His) rs121912999
NM_004415.4(DSP):c.897C>G (p.Ser299Arg) rs121912992
NM_004415.4(DSP):c.939+1G>A rs727504443

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