ClinVar Miner

List of variants in gene RYR1 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 67
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HGVS dbSNP
NM_000540.2(RYR1):c.10048C>A (p.Arg3350=) rs200355885
NM_000540.2(RYR1):c.10097G>A (p.Arg3366His) rs137932199
NM_000540.2(RYR1):c.10219G>A (p.Ala3407Thr) rs143533100
NM_000540.2(RYR1):c.10505G>A (p.Arg3502Gln)
NM_000540.2(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.2(RYR1):c.10917G>A (p.Thr3639=) rs371952058
NM_000540.2(RYR1):c.1131G>A (p.Leu377=) rs1555766901
NM_000540.2(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339
NM_000540.2(RYR1):c.12283-7C>T rs143861818
NM_000540.2(RYR1):c.1250T>C (p.Leu417Pro) rs764262446
NM_000540.2(RYR1):c.12791G>A (p.Gly4264Asp) rs949615251
NM_000540.2(RYR1):c.12863_12865CGG[2] (p.Ala4290_Ala4291del)
NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) rs193922854
NM_000540.2(RYR1):c.12951_12959GCGGCGGCT[3] (p.4318_4320RRL[3]) rs193922846
NM_000540.2(RYR1):c.13015G>C (p.Ala4339Pro) rs1064797241
NM_000540.2(RYR1):c.13022C>T (p.Thr4341Met) rs752855919
NM_000540.2(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.2(RYR1):c.14365-6C>T rs1064797242
NM_000540.2(RYR1):c.14505G>A (p.Gly4835=) rs118126378
NM_000540.2(RYR1):c.1453A>G (p.Met485Val) rs147723844
NM_000540.2(RYR1):c.14642T>C (p.Met4881Thr) rs1568605367
NM_000540.2(RYR1):c.15030T>A (p.Tyr5010Ter) rs1064797243
NM_000540.2(RYR1):c.15084T>C (p.Cys5028=) rs758735802
NM_000540.2(RYR1):c.1855C>G (p.Leu619Val) rs1057519184
NM_000540.2(RYR1):c.2121C>A (p.Gly707=) rs146104858
NM_000540.2(RYR1):c.2390G>A (p.Gly797Asp) rs896357123
NM_000540.2(RYR1):c.2528G>A (p.Arg843His) rs144911352
NM_000540.2(RYR1):c.2683-4C>A rs1009407504
NM_000540.2(RYR1):c.2919C>T (p.His973=) rs139363830
NM_000540.2(RYR1):c.3218T>C (p.Ile1073Thr) rs769763365
NM_000540.2(RYR1):c.3252C>T (p.Ser1084=) rs144164620
NM_000540.2(RYR1):c.3379C>T (p.Arg1127Cys) rs753701890
NM_000540.2(RYR1):c.364A>C (p.Thr122Pro) rs1555763388
NM_000540.2(RYR1):c.3951C>T (p.Pro1317=) rs745447236
NM_000540.2(RYR1):c.408G>A (p.Leu136=) rs756918282
NM_000540.2(RYR1):c.4115C>T (p.Ala1372Val) rs370966353
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.4294-4C>T rs368108496
NM_000540.2(RYR1):c.4306G>A (p.Val1436Met) rs200289457
NM_000540.2(RYR1):c.4363del (p.Asp1455fs) rs1555777086
NM_000540.2(RYR1):c.4710C>T (p.Asn1570=) rs763113534
NM_000540.2(RYR1):c.4711A>G (p.Ile1571Val) rs146429605
NM_000540.2(RYR1):c.4775C>T (p.Pro1592Leu) rs193922777
NM_000540.2(RYR1):c.4782G>A (p.Leu1594=) rs1064797239
NM_000540.2(RYR1):c.4852C>T (p.Arg1618Cys) rs924891897
NM_000540.2(RYR1):c.4911G>A (p.Ala1637=) rs370350821
NM_000540.2(RYR1):c.4931A>G (p.Asn1644Ser) rs1057519109
NM_000540.2(RYR1):c.5019C>T (p.Cys1673=) rs543026464
NM_000540.2(RYR1):c.5036G>A (p.Arg1679His) rs146504767
NM_000540.2(RYR1):c.5665_5667GAG[2] (p.Glu1891del) rs559371263
NM_000540.2(RYR1):c.5814+1G>A rs1057519173
NM_000540.2(RYR1):c.6023T>C (p.Met2008Thr) rs199947661
NM_000540.2(RYR1):c.6790G>A (p.Gly2264Ser) rs1372408402
NM_000540.2(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895
NM_000540.2(RYR1):c.7444+5A>G rs775251569
NM_000540.2(RYR1):c.7483G>A (p.Val2495Met) rs200291321
NM_000540.2(RYR1):c.8112C>T (p.Cys2704=) rs763722972
NM_000540.2(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463
NM_000540.2(RYR1):c.8417G>A (p.Arg2806His) rs778214809
NM_000540.2(RYR1):c.9233+4delG rs757394018
NM_000540.2(RYR1):c.929C>T (p.Ala310Val) rs966781989
NM_000540.2(RYR1):c.9348G>A (p.Ser3116=) rs763655831
NM_000540.2(RYR1):c.9393C>T (p.Tyr3131=) rs753354701
NM_000540.2(RYR1):c.9476A>G (p.Asp3159Gly) rs879074444
NM_000540.2(RYR1):c.9587G>A (p.Arg3196His) rs1064797240
NM_000540.2(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299
NM_000540.2(RYR1):c.9718T>C (p.Cys3240Arg) rs979989952

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