ClinVar Miner

List of variants in gene RYR1 studied for Multiminicore Disease

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Total variants: 62
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HGVS dbSNP
NM_000540.2(RYR1):c.-70dup rs886054376
NM_000540.2(RYR1):c.-81dup rs886054374
NM_000540.2(RYR1):c.10048C>A (p.Arg3350=) rs200355885
NM_000540.2(RYR1):c.10359C>T (p.Arg3453=) rs376830015
NM_000540.2(RYR1):c.10941C>G (p.His3647Gln) rs114351116
NM_000540.2(RYR1):c.11193+3G>A rs886054400
NM_000540.2(RYR1):c.11292C>T (p.Tyr3764=) rs886054401
NM_000540.2(RYR1):c.11517C>T (p.Ser3839=) rs151239950
NM_000540.2(RYR1):c.11687A>T (p.Asn3896Ile) rs1555793251
NM_000540.2(RYR1):c.12084G>T (p.Ser4028=) rs571477269
NM_000540.2(RYR1):c.12588C>T (p.Ile4196=) rs61739895
NM_000540.2(RYR1):c.12619C>A (p.Pro4207Thr) rs886054403
NM_000540.2(RYR1):c.13038T>C (p.Ala4346=) rs758223017
NM_000540.2(RYR1):c.13352C>A (p.Ala4451Asp) rs886054408
NM_000540.2(RYR1):c.13359_13364dup (p.Leu4454_Gly4455dup) rs886054409
NM_000540.2(RYR1):c.13369A>T (p.Met4457Leu) rs867851900
NM_000540.2(RYR1):c.13437+14C>A rs771599721
NM_000540.2(RYR1):c.13464G>A (p.Pro4488=) rs10405232
NM_000540.2(RYR1):c.1923C>G (p.Thr641=) rs116591968
NM_000540.2(RYR1):c.2119G>A (p.Gly707Ser) rs376526576
NM_000540.2(RYR1):c.2241G>A (p.Leu747=) rs34097444
NM_000540.2(RYR1):c.3021C>T (p.Ser1007=) rs143891703
NM_000540.2(RYR1):c.3299G>A (p.Arg1100His) rs755973279
NM_000540.2(RYR1):c.3381C>T (p.Arg1127=) rs200780880
NM_000540.2(RYR1):c.3567C>T (p.Pro1189=) rs200161205
NM_000540.2(RYR1):c.3773G>T (p.Arg1258Leu) rs886054381
NM_000540.2(RYR1):c.3800C>G (p.Pro1267Arg) rs150495044
NM_000540.2(RYR1):c.4071C>T (p.Pro1357=) rs375709463
NM_000540.2(RYR1):c.4074G>A (p.Gly1358=) rs372178862
NM_000540.2(RYR1):c.4294-4C>T rs368108496
NM_000540.2(RYR1):c.4637A>G (p.Lys1546Arg) rs759947063
NM_000540.2(RYR1):c.4747C>T (p.Arg1583Cys) rs754476250
NM_000540.2(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615
NM_000540.2(RYR1):c.537+13G>A rs754569485
NM_000540.2(RYR1):c.5438G>T (p.Arg1813Met) rs886054389
NM_000540.2(RYR1):c.5634G>C (p.Glu1878Asp) rs114203198
NM_000540.2(RYR1):c.577T>A (p.Ser193Thr) rs886054379
NM_000540.2(RYR1):c.6274+1G>A rs1226228092
NM_000540.2(RYR1):c.6318C>A (p.Ala2106=) rs769443054
NM_000540.2(RYR1):c.6651C>T (p.Gly2217=) rs371006370
NM_000540.2(RYR1):c.6730C>T (p.Arg2244Trp) rs772753793
NM_000540.2(RYR1):c.6732G>A (p.Arg2244=) rs78915828
NM_000540.2(RYR1):c.6910G>A (p.Gly2304Ser) rs377080876
NM_000540.2(RYR1):c.7053T>C (p.Asn2351=) rs748167551
NM_000540.2(RYR1):c.7136C>A (p.Ala2379Asp) rs886054394
NM_000540.2(RYR1):c.7344T>C (p.Gly2448=) rs199813873
NM_000540.2(RYR1):c.7615-7G>A rs146159174
NM_000540.2(RYR1):c.7842C>T (p.Ile2614=) rs777420696
NM_000540.2(RYR1):c.8082G>A (p.Glu2694=) rs745619519
NM_000540.2(RYR1):c.8514A>C (p.Lys2838Asn) rs140171924
NM_000540.2(RYR1):c.8827G>A (p.Asp2943Asn) rs79294840
NM_000540.2(RYR1):c.8949T>C (p.Ser2983=) rs116537677
NM_000540.2(RYR1):c.9093C>T (p.Ala3031=) rs140197877
NM_000540.2(RYR1):c.9148G>A (p.Val3050Ile) rs200797340
NM_000540.2(RYR1):c.9261C>T (p.Ile3087=) rs56338790
NM_000540.2(RYR1):c.9555-10C>T rs774666035
NM_000540.2(RYR1):c.958-11del rs537751969
NM_000540.2(RYR1):c.9771C>T (p.Ala3257=) rs75991872
NM_000540.2(RYR1):c.9846C>T (p.Pro3282=) rs886054399
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673
NM_001042723.2(RYR1):c.12845_12854delinsT (p.Ala4282_Ala4285delinsVal) rs796065337
NM_001042723.2(RYR1):c.5628_5630GGA[2] (p.Glu1878del) rs371047178

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