ClinVar Miner

List of variants studied for Timothy syndrome

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Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.5445-511= rs10774054 0.99951
NM_000719.7(CACNA1C):c.2853+265G>C rs215983 0.94615
NM_000719.7(CACNA1C):c.1670-52C>T rs2370602 0.82155
NM_000719.7(CACNA1C):c.5445-584A>G rs10774053 0.80326
NM_000719.7(CACNA1C):c.5681-77C>T rs2270373 0.79539
NM_000719.7(CACNA1C):c.4727-231T>C rs7136355 0.76028
NM_000719.7(CACNA1C):c.5445-586C>T rs10848683 0.70684
NM_000719.7(CACNA1C):c.3945+83T>C rs2239127 0.70394
NM_000719.7(CACNA1C):c.3945+96T>C rs2239128 0.70345
NM_000719.7(CACNA1C):c.3945+109C>T rs2239129 0.68534
NM_000719.7(CACNA1C):c.3946-98G>A rs216045 0.66649
NM_000719.7(CACNA1C):c.4399-79C>A rs2302728 0.61634
NM_000719.7(CACNA1C):c.1896-54G>A rs11832738 0.60150
NM_000719.7(CACNA1C):c.5361G>A (p.Thr1787=) rs1051375 0.57002
NM_000719.7(CACNA1C):c.4074+36G>A rs1990322 0.56695
NM_000719.7(CACNA1C):c.1114-487A>G rs1008832 0.50604
NM_000719.7(CACNA1C):c.1391-64del rs34277236 0.29223
NM_000719.7(CACNA1C):c.617+19T>C rs1544516 0.27158
NM_000719.7(CACNA1C):c.617+17G>A rs1544515 0.27035
NM_000719.7(CACNA1C):c.2793+187A>G rs215981 0.26946
NM_000719.7(CACNA1C):c.3718-81T>C rs216007 0.20791
NM_000719.7(CACNA1C):c.3786C>T (p.Phe1262=) rs216008 0.20673
NM_000719.7(CACNA1C):c.522G>A (p.Ala174=) rs1544514 0.16949
NM_000719.7(CACNA1C):c.3157-90A>G rs758560 0.07002
NM_000719.7(CACNA1C):c.3717+69C>T rs55641425 0.06936
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613 0.00346
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048 0.00279
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446 0.00074
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=) rs200847105 0.00027
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660 0.00015
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790 0.00014
NM_000719.7(CACNA1C):c.4727-9G>A rs757966245 0.00011
NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr) rs370432385 0.00011
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn) rs199473392 0.00007
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557 0.00006
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp) rs760888275 0.00003
NM_000719.7(CACNA1C):c.4289A>C (p.Lys1430Thr) rs759934820 0.00003
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680 0.00003
NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg) rs545511851 0.00002
NM_000719.7(CACNA1C):c.5065G>A (p.Ala1689Thr) rs368700869 0.00002
NM_000719.7(CACNA1C):c.71G>A (p.Arg24His) rs200941579 0.00002
NM_000719.7(CACNA1C):c.*2288G>A rs554155021 0.00001
NM_000719.7(CACNA1C):c.-233C>T rs886049148 0.00001
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711 0.00001
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056 0.00001
NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile) rs766023530 0.00001
NM_000719.7(CACNA1C):c.4946T>C (p.Leu1649Pro) rs762182784 0.00001
NM_000719.7(CACNA1C):c.5023G>A (p.Ala1675Thr) rs773930851 0.00001
NM_000719.7(CACNA1C):c.5225C>T (p.Ser1742Leu) rs375571032 0.00001
NM_000719.7(CACNA1C):c.5255C>T (p.Thr1752Ile) rs752694570 0.00001
NM_000719.7(CACNA1C):c.5549A>C (p.Glu1850Ala) rs375846068 0.00001
NM_000719.7(CACNA1C):c.579C>T (p.Asn193=) rs561224137 0.00001
NM_000719.7(CACNA1C):c.6328G>T (p.Gly2110Cys) rs778550803 0.00001
NM_000719.7(CACNA1C):c.*1652GAATT[1] rs886049224
NM_000719.7(CACNA1C):c.*5421del rs10713809
NM_000719.7(CACNA1C):c.*652_*659GCC[2]GGGAAGGGGCCGCCGG[1] rs71057834
NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter) rs1555672574
NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser) rs80315385
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000719.7(CACNA1C):c.1217+5G>A rs2099768300
NM_000719.7(CACNA1C):c.1390+4A>G
NM_000719.7(CACNA1C):c.1412C>A (p.Thr471Asn) rs1599718556
NM_000719.7(CACNA1C):c.1523G>A (p.Arg508Gln) rs762091177
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) rs786205748
NM_000719.7(CACNA1C):c.1609A>G (p.Asn537Asp) rs1467561684
NM_000719.7(CACNA1C):c.1853T>G (p.Val618Gly) rs2154593437
NM_000719.7(CACNA1C):c.1917C>A (p.Asn639Lys) rs1057524804
NM_000719.7(CACNA1C):c.1917C>G (p.Asn639Lys) rs1057524804
NM_000719.7(CACNA1C):c.1917C>T (p.Asn639=) rs1057524804
NM_000719.7(CACNA1C):c.1928C>T (p.Ser643Phe)
NM_000719.7(CACNA1C):c.2269G>C (p.Ala757Pro) rs560163331
NM_000719.7(CACNA1C):c.2451del (p.Ala818fs) rs2153231721
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro) rs730880056
NM_000719.7(CACNA1C):c.3061T>C (p.Cys1021Arg) rs1057518301
NM_000719.7(CACNA1C):c.3343G>A (p.Glu1115Lys) rs199473391
NM_000719.7(CACNA1C):c.3460G>A (p.Ala1154Thr) rs1601930985
NM_000719.7(CACNA1C):c.3497T>C (p.Ile1166Thr) rs797044881
NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala) rs2153440081
NM_000719.7(CACNA1C):c.3866T>G (p.Leu1289Trp) rs2153572497
NM_000719.7(CACNA1C):c.4074+33del rs34428885
NM_000719.7(CACNA1C):c.4087G>T (p.Val1363Leu) rs1555968941
NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly) rs794727587
NM_000719.7(CACNA1C):c.4761G>A (p.Ala1587=) rs756364065
NM_000719.7(CACNA1C):c.5109C>G (p.Phe1703Leu) rs767569416
NM_000719.7(CACNA1C):c.5435G>A (p.Ser1812Asn) rs1556123007
NM_000719.7(CACNA1C):c.5444+584T>G rs2153807364
NM_000719.7(CACNA1C):c.5445-496G>A rs2153815776
NM_000719.7(CACNA1C):c.5485GAG[1] (p.Glu1830del) rs1603457578
NM_000719.7(CACNA1C):c.5528A>G (p.His1843Arg)
NM_000719.7(CACNA1C):c.5728C>T (p.Arg1910Ter) rs1556291640
NM_000719.7(CACNA1C):c.583T>C (p.Trp195Arg) rs2154562876
NM_000719.7(CACNA1C):c.5884C>T (p.Arg1962Ter)
NM_000719.7(CACNA1C):c.595G>A (p.Asp199Asn) rs2154562881
NM_000719.7(CACNA1C):c.6235_6237del (p.Asp2079del) rs886049208
NM_000719.7(CACNA1C):c.6323_6337dup (p.Glu2112_Asp2113insAlaGlyGlyGluGlu)
NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg) rs786205745
NM_001167623.2(CACNA1C):c.1216G>C (p.Gly406Arg) rs786205745

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