ClinVar Miner

List of variants in gene RYR1 reported as uncertain significance for Inborn genetic diseases

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Total variants: 13
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HGVS dbSNP
NM_000540.2(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.2(RYR1):c.124G>C (p.Gly42Arg) rs759417601
NM_000540.2(RYR1):c.12886C>T (p.Arg4296Trp) rs995399684
NM_000540.2(RYR1):c.13477C>G (p.Pro4493Ala) rs149455643
NM_000540.2(RYR1):c.13690C>T (p.Arg4564Trp) rs753208767
NM_000540.2(RYR1):c.14203C>T (p.Arg4735Trp) rs766887342
NM_000540.2(RYR1):c.14705T>C (p.Ile4902Thr) rs1555805287
NM_000540.2(RYR1):c.2609G>A (p.Arg870Gln) rs755152453
NM_000540.2(RYR1):c.2822C>T (p.Ala941Val) rs748568687
NM_000540.2(RYR1):c.3311C>T (p.Ala1104Val) rs149096607
NM_000540.2(RYR1):c.443C>T (p.Thr148Ile) rs151325948
NM_000540.2(RYR1):c.9353C>T (p.Ala3118Val) rs2915960
NM_000540.2(RYR1):c.9650C>T (p.Ser3217Phe) rs1283174775

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