ClinVar Miner

List of variants in gene RYR1 reported as uncertain significance for Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.12869C>T (p.Ala4290Val) rs755065800 0.00298
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00110
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00107
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_000540.3(RYR1):c.9148G>A (p.Val3050Ile) rs200797340 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_000540.3(RYR1):c.7433C>A (p.Thr2478Asn) rs141298868 0.00010
NM_000540.3(RYR1):c.11518G>A (p.Val3840Ile) rs140616359 0.00008
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys) rs746818096 0.00006
NM_000540.3(RYR1):c.7204C>T (p.Arg2402Trp) rs575780192 0.00005
NM_000540.3(RYR1):c.251C>T (p.Thr84Met) rs186983396 0.00004
NM_000540.3(RYR1):c.2995C>T (p.Arg999Cys) rs150442096 0.00004
NM_000540.3(RYR1):c.6730C>T (p.Arg2244Trp) rs772753793 0.00004
NM_000540.3(RYR1):c.9640A>G (p.Asn3214Asp) rs377541724 0.00004
NM_000540.3(RYR1):c.13207G>A (p.Ala4403Thr) rs1051206491 0.00003
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr) rs146306934 0.00003
NM_000540.3(RYR1):c.10139G>A (p.Arg3380His) rs754760055 0.00002
NM_000540.3(RYR1):c.11329A>G (p.Met3777Val) rs767480684 0.00001
NM_000540.3(RYR1):c.2608C>T (p.Arg870Trp) rs573876812 0.00001
NM_000540.3(RYR1):c.4589C>G (p.Ala1530Gly) rs963226554 0.00001
NM_000540.3(RYR1):c.7199A>G (p.Asp2400Gly) rs976108591 0.00001
NM_000540.3(RYR1):c.7363G>A (p.Ala2455Thr) rs765019465 0.00001
NM_000540.3(RYR1):c.10450A>G (p.Ile3484Val)
NM_000540.3(RYR1):c.10735G>A (p.Val3579Ile) rs764650501
NM_000540.3(RYR1):c.11444T>C (p.Met3815Thr)
NM_000540.3(RYR1):c.11782T>A (p.Ser3928Thr)
NM_000540.3(RYR1):c.12852CACGGCGGC[1] (p.4285TAA[1]) rs398123469
NM_000540.3(RYR1):c.1297A>G (p.Thr433Ala)
NM_000540.3(RYR1):c.1342A>T (p.Ile448Phe) rs911417327
NM_000540.3(RYR1):c.13471C>G (p.Pro4491Ala)
NM_000540.3(RYR1):c.14138C>T (p.Pro4713Leu)
NM_000540.3(RYR1):c.14421CTT[2] (p.Phe4810del) rs1555803810
NM_000540.3(RYR1):c.2873A>G (p.Tyr958Cys)
NM_000540.3(RYR1):c.2902C>A (p.Pro968Thr)
NM_000540.3(RYR1):c.3157G>A (p.Glu1053Lys) rs746198645
NM_000540.3(RYR1):c.4592A>G (p.Asn1531Ser) rs1968860939
NM_000540.3(RYR1):c.7801G>A (p.Asp2601Asn)
NM_000540.3(RYR1):c.9700A>G (p.Asn3234Asp)

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