ClinVar Miner

List of variants in gene RYR2 reported by Stanford Center for Inherited Cardiovascular Disease, Stanford University

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750 0.00051
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His) rs201312753 0.00019
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623 0.00016
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897 0.00016
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624 0.00013
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744 0.00011
NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser) rs373665895 0.00009
NM_001035.3(RYR2):c.6445A>G (p.Ile2149Val) rs767258350 0.00008
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp) rs372601642 0.00008
NM_001035.3(RYR2):c.13600C>T (p.Pro4534Ser) rs199624074 0.00005
NM_001035.3(RYR2):c.8130T>G (p.Asn2710Lys) rs876661388 0.00002
NM_001035.3(RYR2):c.10125A>G (p.Arg3375=) rs764396074 0.00001
NM_001035.3(RYR2):c.3026G>A (p.Arg1009Gln) rs754812132 0.00001
NM_001035.3(RYR2):c.100A>C (p.Lys34Gln) rs876661385
NM_001035.3(RYR2):c.10342G>C (p.Glu3448Gln) rs1553298016
NM_001035.3(RYR2):c.10592A>G (p.Tyr3531Cys) rs794728769
NM_001035.3(RYR2):c.1082G>A (p.Cys361Tyr) rs794728719
NM_001035.3(RYR2):c.11218G>T (p.Val3740Leu) rs536555602
NM_001035.3(RYR2):c.11591A>G (p.Asn3864Ser) rs794728776
NM_001035.3(RYR2):c.11621C>T (p.Thr3874Ile) rs2149314726
NM_001035.3(RYR2):c.12056T>C (p.Met4019Thr) rs886039150
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.3(RYR2):c.13520T>C (p.Leu4507Ser) rs794728798
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.3(RYR2):c.13763T>C (p.Ile4588Thr) rs876661386
NM_001035.3(RYR2):c.13904T>A (p.Ile4635Asn) rs1060500169
NM_001035.3(RYR2):c.14173T>A (p.Tyr4725Asn) rs876661387
NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu) rs794728802
NM_001035.3(RYR2):c.14288A>G (p.Asn4763Ser) rs794728803
NM_001035.3(RYR2):c.6757C>G (p.Leu2253Val) rs876661389
NM_001035.3(RYR2):c.790G>C (p.Gly264Arg) rs794728713
NM_001035.3(RYR2):c.8879T>A (p.Ile2960Asn) rs759048462
NM_001035.3(RYR2):c.9887T>C (p.Met3296Thr) rs876661390

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