ClinVar Miner

List of variants in gene RYR1 reported as benign by Athena Diagnostics Inc

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Gene type:
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Total variants: 8
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HGVS dbSNP
NM_000540.2(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273
NM_000540.2(RYR1):c.14589C>T (p.Phe4863=) rs146072491
NM_000540.2(RYR1):c.2241G>A (p.Leu747=) rs34097444
NM_000540.2(RYR1):c.297G>A (p.Thr99=) rs144241486
NM_000540.2(RYR1):c.3972G>A (p.Ala1324=) rs200451188
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.7615-7G>A rs146159174

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