ClinVar Miner

List of variants in gene RYR2 reported by Biesecker Lab/Human Development Section,National Institutes of Health

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Total variants: 38
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HGVS dbSNP
NM_001035.2(RYR2):c.10381A>G (p.Met3461Val) rs147512481
NM_001035.2(RYR2):c.10528C>T (p.Arg3510Cys) rs201749277
NM_001035.2(RYR2):c.10680T>A (p.His3560Gln) rs727503404
NM_001035.2(RYR2):c.10699C>T (p.Arg3567Cys) rs559154874
NM_001035.2(RYR2):c.11126A>T (p.Glu3709Val) rs200013680
NM_001035.2(RYR2):c.12842C>T (p.Thr4281Met) rs201829896
NM_001035.2(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869
NM_001035.2(RYR2):c.13267A>C (p.Lys4423Gln) rs376908332
NM_001035.2(RYR2):c.13600C>T (p.Pro4534Ser) rs199624074
NM_001035.2(RYR2):c.136C>A (p.Leu46Ile) rs200643211
NM_001035.2(RYR2):c.13712C>T (p.Thr4571Met) rs200803276
NM_001035.2(RYR2):c.1396C>G (p.Pro466Ala) rs376612295
NM_001035.2(RYR2):c.1509C>A (p.Asp503Glu) rs764532025
NM_001035.2(RYR2):c.1519G>A (p.Val507Ile) rs16835270
NM_001035.2(RYR2):c.2444C>T (p.Pro815Leu) rs537596448
NM_001035.2(RYR2):c.2711A>G (p.Tyr904Cys) rs201131315
NM_001035.2(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624
NM_001035.2(RYR2):c.3320C>T (p.Thr1107Met) rs200236750
NM_001035.2(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.2(RYR2):c.3407C>T (p.Ala1136Val) rs72549415
NM_001035.2(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512
NM_001035.2(RYR2):c.4445G>A (p.Arg1482His) rs373024059
NM_001035.2(RYR2):c.4891C>T (p.His1631Tyr) rs786205423
NM_001035.2(RYR2):c.556G>A (p.Val186Met) rs201211033
NM_001035.2(RYR2):c.5652G>T (p.Lys1884Asn) rs202117250
NM_001035.2(RYR2):c.5653G>T (p.Gly1885Trp) rs200197527
NM_001035.2(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858
NM_001035.2(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871
NM_001035.2(RYR2):c.5657dup (p.Lys1887Glnfs) rs786205273
NM_001035.2(RYR2):c.5923A>G (p.Met1975Val) rs200318013
NM_001035.2(RYR2):c.6337G>A (p.Val2113Met) rs186906598
NM_001035.2(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001035.2(RYR2):c.6689C>T (p.Ala2230Val) rs786205270
NM_001035.2(RYR2):c.7807G>A (p.Ala2603Thr) rs59331340
NM_001035.2(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897
NM_001035.2(RYR2):c.8273A>G (p.Lys2758Arg) rs200053476
NM_001035.2(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813
NM_001035.2(RYR2):c.9841T>G (p.Leu3281Val) rs786205424

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