ClinVar Miner

List of variants reported as uncertain significance for Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 5 by Fulgent Genetics, Fulgent Genetics

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_006073.4(TRDN):c.1193A>T (p.Glu398Val) rs374355537 0.00041
NM_006073.4(TRDN):c.71T>A (p.Val24Glu) rs201097255 0.00034
NM_006073.4(TRDN):c.1537+1G>A rs189125299 0.00019
NM_006073.4(TRDN):c.419A>G (p.Lys140Arg) rs200953683 0.00017
NM_006073.4(TRDN):c.85G>A (p.Gly29Arg) rs763469367 0.00016
NM_006073.4(TRDN):c.1627C>A (p.Gln543Lys) rs9398723 0.00013
NM_006073.4(TRDN):c.125C>T (p.Thr42Met) rs371627659 0.00010
NM_006073.4(TRDN):c.727A>G (p.Thr243Ala) rs376208769 0.00009
NM_006073.4(TRDN):c.1137T>G (p.Asp379Glu) rs200706450 0.00008
NM_006073.4(TRDN):c.2084A>T (p.Asp695Val) rs202040879 0.00006
NM_006073.4(TRDN):c.550G>T (p.Ala184Ser) rs576028226 0.00006
NM_006073.4(TRDN):c.1361T>C (p.Val454Ala) rs745960330 0.00005
NM_006073.4(TRDN):c.1471+5T>C rs374426512 0.00005
NM_006073.4(TRDN):c.1136-1G>A rs769776218 0.00004
NM_006073.4(TRDN):c.2179C>T (p.Gln727Ter) rs201041981 0.00004
NM_006073.4(TRDN):c.376G>A (p.Glu126Lys) rs539743603 0.00004
NM_006073.4(TRDN):c.575A>C (p.Lys192Thr) rs777796676 0.00004
NM_006073.4(TRDN):c.991G>A (p.Glu331Lys) rs763851599 0.00004
NM_006073.4(TRDN):c.1601T>G (p.Ile534Arg) rs926868398 0.00003
NM_006073.4(TRDN):c.1783G>A (p.Asp595Asn) rs771170294 0.00003
NM_006073.4(TRDN):c.196G>T (p.Val66Phe) rs372169818 0.00003
NM_006073.4(TRDN):c.25A>G (p.Asn9Asp) rs768303943 0.00003
NM_006073.4(TRDN):c.32C>T (p.Ser11Phe) rs760549842 0.00003
NM_006073.4(TRDN):c.127A>G (p.Thr43Ala) rs367564871 0.00002
NM_006073.4(TRDN):c.1975+5G>T rs899940538 0.00002
NM_006073.4(TRDN):c.2110T>A (p.Phe704Ile) rs780892167 0.00002
NM_006073.4(TRDN):c.1206A>T (p.Lys402Asn) rs745563456 0.00001
NM_006073.4(TRDN):c.1283G>A (p.Arg428Gln) rs371336992 0.00001
NM_006073.4(TRDN):c.1286C>A (p.Ala429Asp) rs1297242196 0.00001
NM_006073.4(TRDN):c.1682T>A (p.Val561Asp) rs947096255 0.00001
NM_006073.4(TRDN):c.1765C>A (p.Pro589Thr) rs374035597 0.00001
NM_006073.4(TRDN):c.1766C>A (p.Pro589His) rs371717903 0.00001
NM_006073.4(TRDN):c.17C>T (p.Ala6Val) rs764897557 0.00001
NM_006073.4(TRDN):c.1954G>A (p.Glu652Lys) rs1194412303 0.00001
NM_006073.4(TRDN):c.2176C>T (p.Gln726Ter) rs1414689230 0.00001
NM_006073.4(TRDN):c.335A>T (p.Asp112Val) rs772376488 0.00001
NM_006073.4(TRDN):c.604G>A (p.Ala202Thr) rs1335196025 0.00001
NM_006073.4(TRDN):c.1055C>T (p.Pro352Leu) rs754708708
NM_006073.4(TRDN):c.1150A>G (p.Lys384Glu) rs1159691201
NM_006073.4(TRDN):c.1223A>C (p.Lys408Thr) rs2114402336
NM_006073.4(TRDN):c.1282C>G (p.Arg428Gly) rs202219343
NM_006073.4(TRDN):c.1300_1308del (p.Gly434_Val436del) rs765757457
NM_006073.4(TRDN):c.1304C>T (p.Ala435Val) rs370712881
NM_006073.4(TRDN):c.1700C>A (p.Ala567Asp) rs545470302
NM_006073.4(TRDN):c.410C>T (p.Pro137Leu) rs1242484153

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