ClinVar Miner

List of variants in gene RYR1 reported as pathogenic by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00006
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000540.3(RYR1):c.6274+1G>A rs1226228092 0.00004
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177 0.00004
NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu) rs368874586 0.00003
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter) rs752199191 0.00003
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys) rs193922764 0.00002
NM_000540.3(RYR1):c.14173-2A>G rs1189024951 0.00002
NM_000540.3(RYR1):c.14209C>T (p.Arg4737Trp) rs193922867 0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) rs118192168 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.529C>T (p.Arg177Cys) rs193922757 0.00001
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175 0.00001
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His) rs112563513 0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) rs118192122 0.00001
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397 0.00001
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His) rs121918594 0.00001
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.10347+1G>A rs111436401
NM_000540.3(RYR1):c.11320dup (p.Ala3774fs) rs768698639
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.3(RYR1):c.12978del (p.Glu4327fs) rs1568582893
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs) rs193922856
NM_000540.3(RYR1):c.13220del (p.Gly4407fs) rs1568583728
NM_000540.3(RYR1):c.13437+1G>A rs1568584452
NM_000540.3(RYR1):c.13900G>A (p.Glu4634Lys) rs118192133
NM_000540.3(RYR1):c.13909A>G (p.Thr4637Ala) rs118192166
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp) rs118192135
NM_000540.3(RYR1):c.13919T>G (p.Met4640Arg) rs1568594068
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile) rs121918595
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.14741G>C (p.Arg4914Thr) rs118192154
NM_000540.3(RYR1):c.14869-1G>T rs193922897
NM_000540.3(RYR1):c.1841G>T (p.Arg614Leu) rs193922772
NM_000540.3(RYR1):c.1982G>A (p.Trp661Ter) rs748492214
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter) rs878854365
NM_000540.3(RYR1):c.2989C>T (p.Arg997Ter) rs758925580
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.3(RYR1):c.528G>T (p.Glu176Asp) rs1568436081
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del) rs121918596
NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr) rs193922802
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His) rs28933396
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.742G>A (p.Gly248Arg) rs1801086
NM_000540.3(RYR1):c.742G>C (p.Gly248Arg) rs1801086
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.3(RYR1):c.7523G>A (p.Arg2508His) rs193922818
NM_000540.3(RYR1):c.9499C>T (p.Arg3167Ter) rs1171637302

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