ClinVar Miner

List of variants in gene RYR1 reported by Athena Diagnostics Inc

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Total variants: 27
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HGVS dbSNP
NM_000540.2(RYR1):c.10619A>G (p.Tyr3540Cys) rs752477271
NM_000540.2(RYR1):c.10627-1G>C rs1568539909
NM_000540.2(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273
NM_000540.2(RYR1):c.12188T>C (p.Met4063Thr) rs777285788
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_000540.2(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.2(RYR1):c.14589C>T (p.Phe4863=) rs146072491
NM_000540.2(RYR1):c.14802G>C (p.Gln4934His) rs1555805334
NM_000540.2(RYR1):c.1874T>C (p.Leu625Pro) rs1555769513
NM_000540.2(RYR1):c.2121C>A (p.Gly707=) rs146104858
NM_000540.2(RYR1):c.2241G>A (p.Leu747=) rs34097444
NM_000540.2(RYR1):c.2366G>A (p.Arg789Gln) rs200069592
NM_000540.2(RYR1):c.297G>A (p.Thr99=) rs144241486
NM_000540.2(RYR1):c.3326G>A (p.Arg1109Lys) rs35719391
NM_000540.2(RYR1):c.3619G>A (p.Val1207Met) rs760235443
NM_000540.2(RYR1):c.3972G>A (p.Ala1324=) rs200451188
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.455C>A (p.Ala152Asp) rs1555763641
NM_000540.2(RYR1):c.4719G>A (p.Pro1573=) rs35480887
NM_000540.2(RYR1):c.7209C>T (p.Arg2403=) rs78795178
NM_000540.2(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.2(RYR1):c.7615-7G>A rs146159174
NM_000540.2(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463
NM_000540.2(RYR1):c.8616+7G>A rs200023171
NM_000540.2(RYR1):c.879C>T (p.Thr293=)
NM_000540.2(RYR1):c.9615C>G (p.Phe3205Leu) rs1223136232
NM_000540.2(RYR1):c.9623C>T (p.Pro3208Leu)

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