ClinVar Miner

List of variants studied for arrhythmogenic right ventricular cardiomyopathy by Division of Human Genetics, Children's Hospital of Philadelphia

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr) rs727504718 0.00046
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) rs141508330 0.00013
NM_001943.5(DSG2):c.527C>T (p.Thr176Ile) rs536617217 0.00002
NM_001035.3(RYR2):c.2306G>T (p.Arg769Leu) rs754901791
NM_001035.3(RYR2):c.239A>G (p.Glu80Gly) rs794728706
NM_001035.3(RYR2):c.724G>A (p.Asp242Asn) rs1060499569
NM_004415.4(DSP):c.274-3C>G rs794729638
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137

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