ClinVar Miner

List of variants in gene RYR2 reported as uncertain significance by Integrated Genetics/Laboratory Corporation of America

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Total variants: 32
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HGVS dbSNP
NM_001035.3(RYR2):c.10230+20T>C rs74323916
NM_001035.3(RYR2):c.10230T>C (p.His3410=) rs370078129
NM_001035.3(RYR2):c.11930A>C (p.Asp3977Ala) rs1553321536
NM_001035.3(RYR2):c.12489C>T (p.Pro4163=) rs777321777
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775
NM_001035.3(RYR2):c.13957-5C>G rs189772599
NM_001035.3(RYR2):c.219C>T (p.Leu73=) rs1057522387
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623
NM_001035.3(RYR2):c.2401C>T (p.Arg801Cys) rs940667860
NM_001035.3(RYR2):c.2613+8G>A rs776678807
NM_001035.3(RYR2):c.2805G>A (p.Met935Ile) rs727505044
NM_001035.3(RYR2):c.3596A>G (p.Asp1199Gly) rs149760466
NM_001035.3(RYR2):c.3735G>A (p.Arg1245=) rs190884873
NM_001035.3(RYR2):c.37T>C (p.Phe13Leu) rs794728761
NM_001035.3(RYR2):c.3896T>C (p.Ile1299Thr) rs772551383
NM_001035.3(RYR2):c.3971G>C (p.Gly1324Ala) rs773678614
NM_001035.3(RYR2):c.463+10T>C rs193922627
NM_001035.3(RYR2):c.5279G>A (p.Arg1760Gln) rs765106198
NM_001035.3(RYR2):c.601T>C (p.Leu201=) rs752523583
NM_001035.3(RYR2):c.6027T>G (p.Ile2009Met) rs1553529773
NM_001035.3(RYR2):c.616G>A (p.Ala206Thr) rs930769080
NM_001035.3(RYR2):c.6298C>T (p.Arg2100Trp) rs753164125
NM_001035.3(RYR2):c.629C>T (p.Thr210Ile) rs371086868
NM_001035.3(RYR2):c.6431G>A (p.Arg2144His) rs1243083109
NM_001035.3(RYR2):c.749G>T (p.Gly250Val) rs376925177
NM_001035.3(RYR2):c.7546C>T (p.Leu2516Phe) rs775400701
NM_001035.3(RYR2):c.836C>T (p.Thr279Met) rs754312807
NM_001035.3(RYR2):c.9129-2A>G rs1558245390
NM_001035.3(RYR2):c.9293C>T (p.Thr3098Ile) rs1227241969
NM_001035.3(RYR2):c.9295G>C (p.Val3099Leu) rs745616771
NM_001035.3(RYR2):c.9432G>A (p.Lys3144=) rs367780360
NM_001035.3(RYR2):c.9874G>A (p.Glu3292Lys) rs553445235

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