ClinVar Miner

List of variants in gene RYR1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.1668G>A (p.Ser556=) rs2288888 0.64200
NM_000540.3(RYR1):c.9690G>A (p.Leu3230=) rs2304151 0.05835
NM_000540.3(RYR1):c.4024A>G (p.Ser1342Gly) rs34694816 0.04715
NM_000540.3(RYR1):c.10687-10C>T rs77592501 0.04475
NM_000540.3(RYR1):c.9555-13C>T rs2960328 0.03214
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03110
NM_000540.3(RYR1):c.1577-6C>G rs61586345 0.02394
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=) rs142518033 0.01592
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_000540.3(RYR1):c.12012+19T>C rs181590606 0.01243
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_000540.3(RYR1):c.7737G>A (p.Val2579=) rs114975624 0.00971
NM_000540.3(RYR1):c.10259+7G>A rs143752962 0.00875
NM_000540.3(RYR1):c.7281C>T (p.Ala2427=) rs77310009 0.00694
NM_000540.3(RYR1):c.5037C>G (p.Arg1679=) rs34169029 0.00555
NM_000540.3(RYR1):c.9882C>T (p.Ser3294=) rs142610625 0.00467
NM_000540.3(RYR1):c.14505G>A (p.Gly4835=) rs118126378 0.00334
NM_000540.3(RYR1):c.9685+16C>T rs45496799 0.00312
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00208
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_000540.3(RYR1):c.2622G>A (p.Ala874=) rs149381996 0.00155
NM_000540.3(RYR1):c.11141+7A>G rs78350770 0.00140
NM_000540.3(RYR1):c.2919C>T (p.His973=) rs139363830 0.00140
NM_000540.3(RYR1):c.10119G>A (p.Val3373=) rs140689610 0.00079
NM_000540.3(RYR1):c.5364T>G (p.Ala1788=) rs200950362 0.00073
NM_000540.3(RYR1):c.9261C>T (p.Ile3087=) rs56338790 0.00049
NM_000540.3(RYR1):c.10938-9C>T rs201976186 0.00034
NM_000540.3(RYR1):c.5439G>A (p.Arg1813=) rs147424734 0.00017
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000540.3(RYR1):c.11556C>T (p.Ala3852=) rs142947855 0.00006
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_000540.3(RYR1):c.10917G>A (p.Thr3639=) rs371952058 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.3047G>A (p.Arg1016Gln) rs373541911 0.00003
NM_000540.3(RYR1):c.4258C>T (p.Arg1420Cys) rs760625346 0.00003
NM_000540.3(RYR1):c.2139C>T (p.Tyr713=) rs761428539 0.00001
NM_000540.3(RYR1):c.3463A>G (p.Thr1155Ala) rs183262321 0.00001
NM_000540.3(RYR1):c.4578G>A (p.Met1526Ile) rs769254362 0.00001
NM_000540.3(RYR1):c.983G>A (p.Arg328Gln) rs755875230 0.00001
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.12458T>G (p.Val4153Gly)
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.13528G>A (p.Glu4510Lys)
NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro) rs118192138
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000540.3(RYR1):c.14378T>G (p.Leu4793Arg) rs118192179
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.3(RYR1):c.2485C>T (p.Arg829Ter) rs778320565
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter) rs1440262870
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg) rs193922744
NM_000540.3(RYR1):c.424+2T>C rs775192689
NM_000540.3(RYR1):c.4582T>C (p.Phe1528Leu) rs1568476341
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.3(RYR1):c.514_519del (p.171VS[1]) rs794727779
NM_000540.3(RYR1):c.528G>T (p.Glu176Asp) rs1568436081
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.742G>C (p.Gly248Arg) rs1801086
NM_000540.3(RYR1):c.7879G>A (p.Val2627Met) rs914804033
NM_000540.3(RYR1):c.9001-2A>G rs774119942
NM_000540.3(RYR1):c.9356G>T (p.Arg3119Leu) rs193922833

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