ClinVar Miner

List of variants reported as likely benign for Catecholaminergic polymorphic ventricular tachycardia by Invitae

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_001035.3(RYR2):c.14757-7T>A rs757297613 0.00026
NM_001035.3(RYR2):c.14757-6C>T rs779122362 0.00010
NM_001035.3(RYR2):c.11382C>T (p.Ala3794=) rs760519786 0.00004
NM_001035.3(RYR2):c.14875C>T (p.Arg4959Trp) rs755308070 0.00004
NM_001035.3(RYR2):c.7539C>G (p.Ala2513=) rs745761104 0.00004
NM_001035.3(RYR2):c.7569C>T (p.Ala2523=) rs748943528 0.00004
NM_001035.3(RYR2):c.1779T>C (p.His593=) rs551327128 0.00003
NM_006073.4(TRDN):c.611-10C>T rs908084983 0.00003
NM_001035.3(RYR2):c.3921G>A (p.Pro1307=) rs201469656 0.00002
NM_001035.3(RYR2):c.6726G>A (p.Val2242=) rs767246962 0.00002
NM_001232.4(CASQ2):c.87T>C (p.Asp29=) rs772180952 0.00002
NM_001035.3(RYR2):c.11127G>A (p.Glu3709=) rs777292211 0.00001
NM_001035.3(RYR2):c.11613T>C (p.Ile3871=) rs375364162 0.00001
NM_001035.3(RYR2):c.11886C>T (p.Ser3962=) rs1695113528 0.00001
NM_001035.3(RYR2):c.11962+10A>T rs1060503854 0.00001
NM_001035.3(RYR2):c.12273G>A (p.Ala4091=) rs966083978 0.00001
NM_001035.3(RYR2):c.12549A>G (p.Lys4183=) rs760519665 0.00001
NM_001035.3(RYR2):c.12786G>A (p.Lys4262=) rs374332015 0.00001
NM_001035.3(RYR2):c.12954C>T (p.Leu4318=) rs1055906213 0.00001
NM_001035.3(RYR2):c.13245G>A (p.Val4415=) rs1695427951 0.00001
NM_001035.3(RYR2):c.13564-7G>C rs765254375 0.00001
NM_001035.3(RYR2):c.14409T>C (p.Asp4803=) rs878891404 0.00001
NM_001035.3(RYR2):c.14733G>A (p.Gln4911=) rs751453181 0.00001
NM_001035.3(RYR2):c.1477-7G>A rs763127313 0.00001
NM_001035.3(RYR2):c.14809-10A>T rs1455014769 0.00001
NM_001035.3(RYR2):c.14826G>A (p.Lys4942=) rs1379152907 0.00001
NM_001035.3(RYR2):c.1527C>T (p.Ser509=) rs886042568 0.00001
NM_001035.3(RYR2):c.1617T>C (p.Ala539=) rs1274422759 0.00001
NM_001035.3(RYR2):c.2352C>T (p.Ile784=) rs573789485 0.00001
NM_001035.3(RYR2):c.3939C>G (p.Val1313=) rs897918125 0.00001
NM_001035.3(RYR2):c.4596+7G>A rs1008000319 0.00001
NM_001035.3(RYR2):c.4755C>T (p.Arg1585=) rs768562077 0.00001
NM_001035.3(RYR2):c.579C>T (p.His193=) rs1321878462 0.00001
NM_001035.3(RYR2):c.6907A>C (p.Arg2303=) rs1185651821 0.00001
NM_001035.3(RYR2):c.6957C>T (p.Val2319=) rs768367111 0.00001
NM_001035.3(RYR2):c.8493T>C (p.Val2831=) rs755660659 0.00001
NM_001035.3(RYR2):c.9282C>T (p.Ile3094=) rs1391890714 0.00001
NM_006073.4(TRDN):c.1136-7T>C rs1060504472 0.00001
NM_001035.3(RYR2):c.10071T>C (p.Asp3357=) rs2149067326
NM_001035.3(RYR2):c.1041T>C (p.Asp347=) rs1572344667
NM_001035.3(RYR2):c.10554+7C>A rs375143208
NM_001035.3(RYR2):c.10758A>C (p.Val3586=) rs2149142188
NM_001035.3(RYR2):c.12405C>T (p.Arg4135=) rs2149353701
NM_001035.3(RYR2):c.12426C>T (p.Ala4142=) rs1573934435
NM_001035.3(RYR2):c.12918C>T (p.Phe4306=) rs1558407346
NM_001035.3(RYR2):c.1292+8T>C rs1572362036
NM_001035.3(RYR2):c.13107G>A (p.Leu4369=) rs1573937954
NM_001035.3(RYR2):c.13261-8C>T rs2149359851
NM_001035.3(RYR2):c.13261-9T>C rs766481385
NM_001035.3(RYR2):c.13860G>A (p.Gln4620=) rs751521335
NM_001035.3(RYR2):c.1612+10A>G rs886046262
NM_001035.3(RYR2):c.1668C>T (p.Asp556=) rs1572463046
NM_001035.3(RYR2):c.2253T>C (p.Thr751=) rs762905211
NM_001035.3(RYR2):c.2316A>G (p.Gly772=) rs1482407990
NM_001035.3(RYR2):c.2415A>C (p.Gly805=) rs1572625083
NM_001035.3(RYR2):c.2508C>T (p.His836=) rs1572625606
NM_001035.3(RYR2):c.3282T>C (p.Tyr1094=) rs1572900604
NM_001035.3(RYR2):c.3807+8T>G rs2148431750
NM_001035.3(RYR2):c.4224T>C (p.Asp1408=) rs1265244815
NM_001035.3(RYR2):c.4587A>C (p.Thr1529=) rs373148393
NM_001035.3(RYR2):c.4864T>C (p.Leu1622=) rs1255793710
NM_001035.3(RYR2):c.5127C>A (p.Ile1709=) rs1553522097
NM_001035.3(RYR2):c.6120G>A (p.Lys2040=) rs1573190935
NM_001035.3(RYR2):c.6552C>T (p.Ser2184=) rs1573222497
NM_001035.3(RYR2):c.714T>C (p.His238=) rs376541511
NM_001035.3(RYR2):c.7155G>C (p.Gly2385=) rs794728752
NM_001035.3(RYR2):c.8013A>C (p.Ala2671=) rs1237709417
NM_001035.3(RYR2):c.8115T>C (p.Pro2705=) rs1573369150
NM_001035.3(RYR2):c.831A>G (p.Leu277=) rs2150028988
NM_001035.3(RYR2):c.9018-6del rs1573523409
NM_001232.4(CASQ2):c.320-10T>C rs553194567
NM_006073.4(TRDN):c.1720+10G>T rs1582805166
NM_006073.4(TRDN):c.480T>C (p.Thr160=) rs1020844292
NM_006073.4(TRDN):c.861C>T (p.Ser287=) rs769586528

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