ClinVar Miner

List of variants in gene RYR1 reported as likely pathogenic by Genetic Services Laboratory, University of Chicago

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Total variants: 15
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HGVS dbSNP
NM_000540.2(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839
NM_000540.2(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130
NM_000540.2(RYR1):c.14600G>A (p.Ser4867Asn) rs587784373
NM_000540.2(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000540.2(RYR1):c.14770_14772delTTC (p.Phe4924del) rs1064794572
NM_000540.2(RYR1):c.14842C>A (p.Gln4948Lys) rs1555805633
NM_000540.2(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145
NM_000540.2(RYR1):c.1901C>G (p.Thr634Arg) rs1555769544
NM_000540.2(RYR1):c.2366G>A (p.Arg789Gln) rs200069592
NM_000540.2(RYR1):c.2654G>A (p.Arg885His) rs370634440
NM_000540.2(RYR1):c.2870+1G>A rs765241115
NM_000540.2(RYR1):c.3235_3240dup (p.Tyr1080_Thr1081insSerTyr) rs797045933
NM_000540.2(RYR1):c.325C>T (p.Arg109Trp) rs118192173
NM_000540.2(RYR1):c.3801dupC (p.Cys1268Leufs) rs587784374
NM_000540.2(RYR1):c.5910G>C (p.Gln1970His) rs1555780327

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