ClinVar Miner

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

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Total variants: 40
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HGVS dbSNP
NC_000019.10:g.(?_38464639)_(38464722_?)del
NC_000019.10:g.(?_38585928)_(38586012_?)dup
NC_000019.9:g.(?_39013648)_(39028620_?)dup
NM_000540.2(RYR1):c.10687-2A>G rs1600930323
NM_000540.2(RYR1):c.10937+1G>A rs775682151
NM_000540.2(RYR1):c.11590+1G>T rs113928116
NM_000540.2(RYR1):c.11608+2T>C rs1443083095
NM_000540.2(RYR1):c.11778+1G>T rs1555794209
NM_000540.2(RYR1):c.1250T>C (p.Leu417Pro) rs764262446
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.13724A>C (p.Asn4575Thr) rs1568591803
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.13919T>G (p.Met4640Arg) rs1568594068
NM_000540.2(RYR1):c.13940T>C (p.Leu4647Pro) rs1555801902
NM_000540.2(RYR1):c.14129+1G>T rs142929172
NM_000540.2(RYR1):c.1440+1G>A rs1568445415
NM_000540.2(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.2(RYR1):c.14489C>A (p.Ser4830Tyr) rs1555803852
NM_000540.2(RYR1):c.14690G>A (p.Gly4897Asp) rs118192148
NM_000540.2(RYR1):c.3800C>G (p.Pro1267Arg) rs150495044
NM_000540.2(RYR1):c.4294-2A>G rs1555777043
NM_000540.2(RYR1):c.4934G>T (p.Arg1645Leu) rs193922778
NM_000540.2(RYR1):c.5120G>A (p.Arg1707His) rs371566475
NM_000540.2(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781
NM_000540.2(RYR1):c.6274+1G>A rs1226228092
NM_000540.2(RYR1):c.6664-2A>G rs1346257891
NM_000540.2(RYR1):c.7111G>A (p.Glu2371Lys) rs1057518940
NM_000540.2(RYR1):c.7615-1G>T rs1317181118
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_000540.3(RYR1):c.10440+2_10440+22del
NM_000540.3(RYR1):c.14759C>T (p.Thr4920Ile)
NM_000540.3(RYR1):c.2577+1G>A
NM_000540.3(RYR1):c.2786+2T>G
NM_000540.3(RYR1):c.4935-2A>T
NM_000540.3(RYR1):c.8401-1G>A
NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys) rs193922832

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