ClinVar Miner

List of variants in gene RYR2 reported as likely pathogenic for not provided

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.12283G>A (p.Gly4095Ser) rs753850982 0.00001
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) rs764698152 0.00001
NM_001035.3(RYR2):c.14869T>A (p.Cys4957Ser) rs758500988 0.00001
NM_001035.3(RYR2):c.9872A>T (p.Asp3291Val) rs1209752961 0.00001
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.1066T>G (p.Tyr356Asp) rs794728718
NM_001035.3(RYR2):c.11200C>T (p.Arg3734Cys) rs1060500150
NM_001035.3(RYR2):c.11583G>C (p.Gln3861His) rs1014561815
NM_001035.3(RYR2):c.11588G>A (p.Gly3863Asp) rs794728775
NM_001035.3(RYR2):c.11914A>G (p.Met3972Val) rs1085307997
NM_001035.3(RYR2):c.11959G>A (p.Glu3987Lys) rs794728778
NM_001035.3(RYR2):c.11995A>G (p.Met3999Val) rs794728780
NM_001035.3(RYR2):c.12002A>G (p.Asp4001Gly) rs1064793256
NM_001035.3(RYR2):c.12016T>A (p.Ser4006Thr)
NM_001035.3(RYR2):c.120_135dup (p.Leu46fs) rs1689579412
NM_001035.3(RYR2):c.12268C>T (p.Pro4090Ser) rs794728782
NM_001035.3(RYR2):c.12301C>T (p.Leu4101Phe) rs794728785
NM_001035.3(RYR2):c.12326T>C (p.Met4109Thr) rs1373714510
NM_001035.3(RYR2):c.1250G>T (p.Arg417Leu) rs751428303
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.3(RYR2):c.13528G>T (p.Ala4510Ser) rs397516510
NM_001035.3(RYR2):c.13748C>A (p.Ser4583Tyr) rs886039458
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp) rs794728799
NM_001035.3(RYR2):c.14173T>A (p.Tyr4725Asn) rs876661387
NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu) rs794728802
NM_001035.3(RYR2):c.14278G>A (p.Val4760Ile) rs794728831
NM_001035.3(RYR2):c.14288A>G (p.Asn4763Ser) rs794728803
NM_001035.3(RYR2):c.14341T>C (p.Tyr4781His) rs1553335836
NM_001035.3(RYR2):c.14623G>C (p.Asp4875His) rs794728806
NM_001035.3(RYR2):c.14804G>C (p.Gly4935Ala) rs794728809
NM_001035.3(RYR2):c.14845T>C (p.Trp4949Arg) rs794728810
NM_001035.3(RYR2):c.14849A>G (p.Glu4950Gly) rs1057517873
NM_001035.3(RYR2):c.14885A>G (p.Tyr4962Cys) rs794728832
NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu) rs730880187
NM_001035.3(RYR2):c.230C>T (p.Ala77Val) rs1060500142
NM_001035.3(RYR2):c.28G>T (p.Glu10Ter) rs2148061633
NM_001035.3(RYR2):c.39C>G (p.Phe13Leu) rs1660038687
NM_001035.3(RYR2):c.499A>G (p.Lys167Glu) rs794728707
NM_001035.3(RYR2):c.502C>G (p.Gln168Glu) rs1085308008
NM_001035.3(RYR2):c.512_514del (p.Glu171del) rs794728812
NM_001035.3(RYR2):c.527G>T (p.Arg176Leu) rs794728708
NM_001035.3(RYR2):c.6598C>T (p.Leu2200Phe) rs794728743
NM_001035.3(RYR2):c.659G>A (p.Gly220Glu) rs786205454
NM_001035.3(RYR2):c.6683G>T (p.Gly2228Val) rs794728744
NM_001035.3(RYR2):c.6829T>C (p.Cys2277Arg) rs794727676
NM_001035.3(RYR2):c.6839T>C (p.Leu2280Pro)
NM_001035.3(RYR2):c.6883G>A (p.Gly2295Arg) rs794728745
NM_001035.3(RYR2):c.6916G>A (p.Val2306Ile) rs794728746
NM_001035.3(RYR2):c.6940G>A (p.Glu2314Lys) rs794728748
NM_001035.3(RYR2):c.6940_6942delinsAAA (p.Glu2314Lys) rs1553263732
NM_001035.3(RYR2):c.6950C>A (p.Ala2317Glu) rs794728750
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr) rs794728753
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val) rs794728754
NM_001035.3(RYR2):c.7385C>T (p.Pro2462Leu) rs794728757
NM_001035.3(RYR2):c.790G>C (p.Gly264Arg) rs794728713
NM_001035.3(RYR2):c.818C>T (p.Ser273Phe) rs794728715

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