ClinVar Miner

List of variants in gene RYR2 studied for Catecholaminergic polymorphic ventricular tachycardia type 1

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Total variants: 49
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HGVS dbSNP
NM_001035.3(RYR2):c.10241G>A (p.Arg3414Lys) rs1131692324
NM_001035.3(RYR2):c.10324-4A>G rs72751287
NM_001035.3(RYR2):c.11197G>A (p.Asp3733Asn) rs760307737
NM_001035.3(RYR2):c.11234G>T (p.Ser3745Ile)
NM_001035.3(RYR2):c.1144G>A (p.Val382Met) rs370057029
NM_001035.3(RYR2):c.11570A>G (p.Tyr3857Cys) rs587782975
NM_001035.3(RYR2):c.11788G>C (p.Gly3930Arg)
NM_001035.3(RYR2):c.12312C>G (p.Asn4104Lys) rs121918599
NM_001035.3(RYR2):c.12325A>G (p.Met4109Val) rs730880196
NM_001035.3(RYR2):c.12550_12552del (p.Glu4184del) rs1558405887
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg) rs121918605
NM_001035.3(RYR2):c.1319C>T (p.Ala440Val) rs758904216
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775
NM_001035.3(RYR2):c.13412G>C (p.Gly4471Ala) rs1553325274
NM_001035.3(RYR2):c.13476+8_13476+11dup rs864309562
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys) rs121918600
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.3(RYR2):c.13564-41A>G rs114289907
NM_001035.3(RYR2):c.13737C>A (p.His4579Gln) rs886037907
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001035.3(RYR2):c.14579C>G (p.Ala4860Gly) rs121918606
NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp) rs886038888
NM_001035.3(RYR2):c.14726C>T (p.Thr4909Ile) rs730880201
NM_001035.3(RYR2):c.14733G>A (p.Gln4911=) rs751453181
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.1604A>G (p.Glu535Gly) rs869025509
NM_001035.3(RYR2):c.169-198_273+820del
NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu) rs730880187
NM_001035.3(RYR2):c.1918A>G (p.Arg640Gly) rs886041109
NM_001035.3(RYR2):c.2306G>T (p.Arg769Leu) rs754901791
NM_001035.3(RYR2):c.2468A>T (p.Tyr823Phe)
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys) rs730880191
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750
NM_001035.3(RYR2):c.365G>A (p.Arg122His) rs727503396
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) rs794728708
NM_001035.3(RYR2):c.5585A>G (p.Asp1862Gly) rs1559117209
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598
NM_001035.3(RYR2):c.6394G>C (p.Val2132Leu) rs1553531684
NM_001035.3(RYR2):c.6520G>T (p.Val2174Phe) rs1131692321
NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu) rs121918597
NM_001035.3(RYR2):c.6982C>T (p.Pro2328Ser) rs121918603
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001035.3(RYR2):c.7422G>C (p.Arg2474Ser) rs121918598
NM_001035.3(RYR2):c.7469T>C (p.Val2490Ala) rs886041112
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val) rs374191985
NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg) rs730880194
NM_001035.3(RYR2):c.9688C>A (p.Gln3230Lys) rs886037908

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