ClinVar Miner

List of variants studied for Arrhythmogenic right ventricular dysplasia 2 by Baylor Genetics

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys) rs202040519 0.00020
NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr) rs375482798 0.00010
NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met) rs370331492 0.00006
NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly) rs374306538 0.00003
NM_001035.3(RYR2):c.8262G>C (p.Gln2754His) rs773748242 0.00003
GRCh37/hg19 1q43(chr1:237413038-237540797)
NM_001035.3(RYR2):c.11623G>T (p.Val3875Leu) rs1060500137
NM_001035.3(RYR2):c.11805G>C (p.Leu3935Phe)
NM_001035.3(RYR2):c.14751T>G (p.Asn4917Lys)
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) rs794728708
NM_001035.3(RYR2):c.6911T>C (p.Phe2304Ser) rs2148724464
NM_001035.3(RYR2):c.6958G>A (p.Val2320Met) rs1057522884
NM_001035.3(RYR2):c.7774T>G (p.Leu2592Val) rs761019645

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