ClinVar Miner

List of variants in gene RYR2 reported by Blueprint Genetics

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Gene type:
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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser) rs201081663 0.00030
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg) rs200121281 0.00021
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623 0.00016
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897 0.00016
NM_001035.3(RYR2):c.6022+5G>A rs376389213 0.00015
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624 0.00013
NM_001035.3(RYR2):c.2630A>C (p.His877Pro) rs561321743 0.00011
NM_001035.3(RYR2):c.1318G>A (p.Ala440Thr) rs371878264 0.00008
NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln) rs752144775 0.00008
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile) rs201675951 0.00004
NM_001035.3(RYR2):c.6433G>C (p.Gly2145Arg) rs587782974 0.00004
NM_001035.3(RYR2):c.2951G>A (p.Ser984Asn) rs730880188 0.00003
NM_001035.3(RYR2):c.8209-4T>C rs371966353 0.00003
NM_001035.3(RYR2):c.5006A>G (p.Asn1669Ser) rs727503400 0.00002
NM_001035.3(RYR2):c.8018C>T (p.Ala2673Val) rs869025513 0.00002
NM_001035.3(RYR2):c.10096C>T (p.Leu3366Phe) rs377712921 0.00001
NM_001035.3(RYR2):c.14172G>C (p.Trp4724Cys) rs780752317 0.00001
NM_001035.3(RYR2):c.2203+3_2203+4dup rs730880376 0.00001
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys) rs730880191 0.00001
NM_001035.3(RYR2):c.365G>A (p.Arg122His) rs727503396 0.00001
NM_001035.3(RYR2):c.378T>A (p.Ser126Arg) rs869025507 0.00001
NM_001035.3(RYR2):c.5420G>A (p.Arg1807Gln) rs730880192 0.00001
NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg) rs730880194 0.00001
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.10471C>G (p.Leu3491Val) rs747700917
NM_001035.3(RYR2):c.10766A>C (p.Lys3589Thr) rs730880195
NM_001035.3(RYR2):c.11570A>G (p.Tyr3857Cys) rs587782975
NM_001035.3(RYR2):c.12325A>G (p.Met4109Val) rs730880196
NM_001035.3(RYR2):c.12379A>C (p.Asn4127His) rs730880197
NM_001035.3(RYR2):c.1238C>T (p.Ser413Leu) rs869025508
NM_001035.3(RYR2):c.13276GAA[2] (p.Glu4428del) rs869025516
NM_001035.3(RYR2):c.13285A>T (p.Lys4429Ter) rs869025515
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.3(RYR2):c.13759A>C (p.Ile4587Leu) rs730880198
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001035.3(RYR2):c.14565T>G (p.Ile4855Met) rs730880199
NM_001035.3(RYR2):c.14635C>A (p.Gln4879Lys) rs730880200
NM_001035.3(RYR2):c.14726C>T (p.Thr4909Ile) rs730880201
NM_001035.3(RYR2):c.1604A>G (p.Glu535Gly) rs869025509
NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu) rs730880187
NM_001035.3(RYR2):c.3049A>G (p.Thr1017Ala) rs730880189
NM_001035.3(RYR2):c.3080G>A (p.Arg1027Lys) rs730880190
NM_001035.3(RYR2):c.5204G>A (p.Ser1735Asn) rs869025510
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) rs794728708
NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln) rs869025511
NM_001035.3(RYR2):c.5732A>T (p.Gln1911Leu) rs730880193
NM_001035.3(RYR2):c.6203G>T (p.Arg2068Leu) rs869025512
NM_001035.3(RYR2):c.6793-4G>T rs568936247
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756

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