ClinVar Miner

List of variants reported as likely pathogenic for Arrhythmogenic right ventricular cardiomyopathy, type 9

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Total variants: 13
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HGVS dbSNP
NM_004572.3(PKP2):c.1034+1G>C rs869025496
NM_004572.3(PKP2):c.1034+1G>T rs869025496
NM_004572.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297
NM_004572.3(PKP2):c.1510+1G>A
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459
NM_004572.3(PKP2):c.1688+1G>A rs397517003
NM_004572.3(PKP2):c.1689-2A>G rs1555143143
NM_004572.3(PKP2):c.1821dup (p.Val608fs) rs397517010
NM_004572.3(PKP2):c.2062T>C (p.Ser688Pro) rs144601090
NM_004572.3(PKP2):c.2300-1G>A rs1060501184
NM_004572.3(PKP2):c.2578-2A>C rs1060501188
NM_170707.4(LMNA):c.1073A>G (p.Glu358Gly) rs1114167345
NM_170707.4(LMNA):c.234G>T (p.Lys78Asn) rs727505038

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