ClinVar Miner

List of variants in gene RYR1 reported as likely pathogenic by Invitae

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Total variants: 20
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HGVS dbSNP
NC_000019.10:g.(?_38523008)_(38537980_?)dup
NM_000540.2(RYR1):c.10937+1G>A
NM_000540.2(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609
NM_000540.2(RYR1):c.11778+1G>T rs1555794209
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_000540.2(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130
NM_000540.2(RYR1):c.13898T>C (p.Leu4633Pro) rs1555801874
NM_000540.2(RYR1):c.13912G>A (p.Gly4638Ser) rs118192136
NM_000540.2(RYR1):c.13940T>C (p.Leu4647Pro) rs1555801902
NM_000540.2(RYR1):c.14126C>T (p.Thr4709Met) rs118192140
NM_000540.2(RYR1):c.1440+1G>A
NM_000540.2(RYR1):c.14690G>A (p.Gly4897Asp)
NM_000540.2(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145
NM_000540.2(RYR1):c.4294-2A>G rs1555777043
NM_000540.2(RYR1):c.6274+1G>A rs1226228092
NM_000540.2(RYR1):c.6664-2A>G rs1346257891
NM_000540.2(RYR1):c.7926+2T>C rs1555784801
NM_000540.2(RYR1):c.8311-1G>C rs1555785388
NM_000540.2(RYR1):c.9047A>G (p.Tyr3016Cys) rs1555786853
NM_000540.2(RYR1):c.9310G>A (p.Glu3104Lys) rs193922832

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