ClinVar Miner

List of variants in gene RYR1 reported as uncertain significance for Malignant hyperthermia susceptibility

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Total variants: 33
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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.10359C>T (p.Arg3453=) rs376830015
NM_000540.2(RYR1):c.11193+3G>A rs886054400
NM_000540.2(RYR1):c.11292C>T (p.Tyr3764=) rs886054401
NM_000540.2(RYR1):c.12084G>T (p.Ser4028=) rs571477269
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.3021C>T (p.Ser1007=) rs143891703
NM_000540.2(RYR1):c.3299G>A (p.Arg1100His) rs755973279
NM_000540.2(RYR1):c.3773G>T (p.Arg1258Leu) rs886054381
NM_000540.2(RYR1):c.4294-4C>T rs368108496
NM_000540.2(RYR1):c.4637A>G (p.Lys1546Arg) rs759947063
NM_000540.2(RYR1):c.537+13G>A rs754569485
NM_000540.2(RYR1):c.5438G>T (p.Arg1813Met) rs886054389
NM_000540.2(RYR1):c.577T>A (p.Ser193Thr) rs886054379
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.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.7842C>T (p.Ile2614=) rs777420696
NM_000540.2(RYR1):c.8082G>A (p.Glu2694=) rs745619519
NM_000540.2(RYR1):c.9261C>T (p.Ile3087=) rs56338790
NM_000540.2(RYR1):c.9555-10C>T rs774666035
NM_000540.2(RYR1):c.9846C>T (p.Pro3282=) rs886054399
NM_001042723.2(RYR1):c.12845_12854delinsT (p.Ala4282_Ala4285delinsVal) rs796065337

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