ClinVar Miner

List of variants reported as likely benign for arrhythmogenic right ventricular cardiomyopathy by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 0.00054
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672 0.00041
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240 0.00020

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