ClinVar Miner

List of variants in gene RYR1 reported by Baylor Genetics

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Gene type:
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299 0.00038
NM_000540.3(RYR1):c.2645C>T (p.Ala882Val) rs143701391 0.00021
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000540.3(RYR1):c.15015G>A (p.Thr5005=) rs2229149 0.00009
NM_000540.3(RYR1):c.1593C>T (p.Gly531=) rs927675372 0.00009
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp) rs142548565 0.00008
NM_000540.3(RYR1):c.10274C>T (p.Thr3425Met) rs150977342 0.00006
NM_000540.3(RYR1):c.3619G>A (p.Val1207Met) rs760235443 0.00006
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) rs180714609 0.00005
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000540.3(RYR1):c.251C>T (p.Thr84Met) rs186983396 0.00004
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln) rs864309559 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.6352C>T (p.Arg2118Trp) rs148660840 0.00003
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg) rs761224660 0.00003
NM_000540.3(RYR1):c.821G>C (p.Arg274Pro) rs368711923 0.00003
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000540.3(RYR1):c.10496G>C (p.Arg3499Pro) rs138324438 0.00001
NM_000540.3(RYR1):c.10609A>G (p.Lys3537Glu) rs1009040238 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg) rs565825739 0.00001
NM_000540.3(RYR1):c.2924G>A (p.Arg975Gln) rs778241277 0.00001
NM_000540.3(RYR1):c.3396C>G (p.His1132Gln) rs572636254 0.00001
NM_000540.3(RYR1):c.4495T>G (p.Phe1499Val) rs1375580585 0.00001
NM_000540.3(RYR1):c.7036G>A (p.Val2346Met) rs193922799 0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) rs118192122 0.00001
NM_000540.3(RYR1):c.9560G>A (p.Arg3187Gln) rs1171145743 0.00001
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.3(RYR1):c.12094+4A>G rs1972431144
NM_000540.3(RYR1):c.12889G>C (p.Val4297Leu) rs1973345393
NM_000540.3(RYR1):c.13022C>G (p.Thr4341Arg) rs752855919
NM_000540.3(RYR1):c.13027G>A (p.Ala4343Thr) rs1204041410
NM_000540.3(RYR1):c.13192G>A (p.Gly4398Arg) rs1472582325
NM_000540.3(RYR1):c.1349A>G (p.Tyr450Cys) rs1967156624
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.3(RYR1):c.177dup (p.Asp60fs) rs756326114
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter) rs1456276440
NM_000540.3(RYR1):c.2449C>G (p.Arg817Gly) rs150633775
NM_000540.3(RYR1):c.2654G>T (p.Arg885Leu) rs370634440
NM_000540.3(RYR1):c.2787-15C>G
NM_000540.3(RYR1):c.3094C>G (p.Arg1032Gly) rs374477216
NM_000540.3(RYR1):c.3695C>T (p.Pro1232Leu) rs1363931971
NM_000540.3(RYR1):c.4226G>A (p.Arg1409Gln)
NM_000540.3(RYR1):c.4550G>A (p.Cys1517Tyr)
NM_000540.3(RYR1):c.487C>A (p.Arg163Ser) rs118192161
NM_000540.3(RYR1):c.7215del (p.Phe2406fs) rs1568501473
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.8223G>C (p.Glu2741Asp) rs1970371040
NM_000540.3(RYR1):c.8743G>A (p.Glu2915Lys) rs1970479129

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