ClinVar Miner

List of variants studied for familial isolated arrhythmogenic right ventricular dysplasia by GenomeConnect, ClinGen

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897 0.00016
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile) rs185715460 0.00008
NM_001035.3(RYR2):c.1319C>T (p.Ala440Val) rs758904216 0.00002
NM_001035.3(RYR2):c.9442G>A (p.Val3148Met) rs876657994 0.00002

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