ClinVar Miner

List of variants in gene RYR1 reported as pathogenic by Revvity Omics, Revvity

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Gene type:
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Total variants: 54
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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.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00005
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.5340_5341del (p.Cys1781fs) rs779723153 0.00003
NM_000540.3(RYR1):c.10347+1G>A rs111436401 0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.1201C>T (p.Arg401Cys) rs193922764 0.00002
NM_000540.3(RYR1):c.10453C>T (p.Gln3485Ter) rs199895006 0.00001
NM_000540.3(RYR1):c.10937+1G>C rs775682151 0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs) rs928989953 0.00001
NM_000540.3(RYR1):c.14209C>T (p.Arg4737Trp) rs193922867 0.00001
NM_000540.3(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868 0.00001
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) rs118192168 0.00001
NM_000540.3(RYR1):c.14645C>T (p.Thr4882Met) rs193922884 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter) rs1305971341 0.00001
NM_000540.3(RYR1):c.6797-1G>A rs1221087983 0.00001
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His) rs112563513 0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816 0.00001
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) rs118192122 0.00001
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter) rs1365856881 0.00001
NM_000540.3(RYR1):c.9157C>T (p.Arg3053Ter) rs1374378105 0.00001
NM_000540.3(RYR1):c.9847C>T (p.Arg3283Ter) rs752199191 0.00001
NM_000540.2(RYR1):c.1439_1440+1del rs2514017119
NM_000540.3(RYR1):c.10063C>T (p.Gln3355Ter) rs2145688683
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.11778+1G>T rs1555794209
NM_000540.3(RYR1):c.12526_12527insGCCT (p.Tyr4176fs) rs2145831520
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.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.2029C>T (p.Gln677Ter) rs878854365
NM_000540.3(RYR1):c.208C>T (p.Gln70Ter) rs1456276440
NM_000540.3(RYR1):c.2505del (p.Pro836fs) rs797045932
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter) rs1440262870
NM_000540.3(RYR1):c.2989C>T (p.Arg997Ter) rs758925580
NM_000540.3(RYR1):c.3801dup (p.Cys1268fs) rs587784374
NM_000540.3(RYR1):c.4875_4879dup (p.Val1627fs) rs758867047
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.3(RYR1):c.6806dup (p.Ser2270fs) rs886041380
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.7523G>A (p.Arg2508His) rs193922818
NM_000540.3(RYR1):c.8773G>T (p.Glu2925Ter) rs2145638522
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro) rs756870293

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