ClinVar Miner

List of variants in gene CACNA1A reported as likely pathogenic for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.2105-2A>G rs906086634 0.00001
NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys) rs779576853 0.00001
NM_001127222.2(CACNA1A):c.5033G>A (p.Arg1678His) rs2055849544 0.00001
NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile) rs1296629000 0.00001
NC_000019.10:g.(?_13259544)_(13259721_?)del
NC_000019.9:g.(?_13340886)_(13342684_?)del
NC_000019.9:g.(?_13445172)_(13446743_?)dup
NM_001127222.2(CACNA1A):c.1198+1G>A rs1057518513
NM_001127222.2(CACNA1A):c.1282del (p.Ser428fs)
NM_001127222.2(CACNA1A):c.1321C>T (p.Gln441Ter)
NM_001127222.2(CACNA1A):c.1345+1G>A rs2145114772
NM_001127222.2(CACNA1A):c.1435del (p.Ile479fs) rs2145051267
NM_001127222.2(CACNA1A):c.1486G>A (p.Val496Ile)
NM_001127222.2(CACNA1A):c.1498A>G (p.Thr500Ala)
NM_001127222.2(CACNA1A):c.1555+2del rs1600313212
NM_001127222.2(CACNA1A):c.1586_1587del (p.Phe529fs) rs1555761603
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs) rs2058057299
NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter) rs2057948502
NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met) rs374686479
NM_001127222.2(CACNA1A):c.184T>A (p.Tyr62Asn)
NM_001127222.2(CACNA1A):c.184T>C (p.Tyr62His)
NM_001127222.2(CACNA1A):c.1850T>C (p.Leu617Ser) rs2145004155
NM_001127222.2(CACNA1A):c.185A>G (p.Tyr62Cys)
NM_001127222.2(CACNA1A):c.1870A>T (p.Ile624Phe) rs2145004096
NM_001127222.2(CACNA1A):c.1883C>T (p.Ala628Val) rs1600292507
NM_001127222.2(CACNA1A):c.1913+1G>A
NM_001127222.2(CACNA1A):c.2000A>C (p.Glu667Ala)
NM_001127222.2(CACNA1A):c.2006G>A (p.Trp669Ter) rs1555757537
NM_001127222.2(CACNA1A):c.2017_2034del (p.Met673_Lys678del) rs2144980726
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.203G>T (p.Arg68Leu)
NM_001127222.2(CACNA1A):c.2067_2068delinsGGAG (p.Phe689fs) rs1568514371
NM_001127222.2(CACNA1A):c.2098G>A (p.Gly700Arg)
NM_001127222.2(CACNA1A):c.2099G>A (p.Gly700Glu) rs2144980363
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met) rs764839814
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met) rs2144979269
NM_001127222.2(CACNA1A):c.2140G>C (p.Asp714His)
NM_001127222.2(CACNA1A):c.2144A>C (p.Asn715Thr) rs1555757432
NM_001127222.2(CACNA1A):c.2343dup (p.Arg782fs)
NM_001127222.2(CACNA1A):c.2345G>C (p.Arg782Pro) rs1233611505
NM_001127222.2(CACNA1A):c.2524_2551del (p.Glu842fs) rs2144956632
NM_001127222.2(CACNA1A):c.2598_2599dup (p.Arg867fs) rs2144956340
NM_001127222.2(CACNA1A):c.2602del (p.Ala868fs)
NM_001127222.2(CACNA1A):c.2804_2814dup (p.Ser939fs) rs1600272344
NM_001127222.2(CACNA1A):c.2812_2813del (p.Gly938fs)
NM_001127222.2(CACNA1A):c.2958_2959dup (p.Arg987fs) rs1555755878
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter) rs1600271575
NM_001127222.2(CACNA1A):c.301G>A (p.Glu101Lys) rs886037944
NM_001127222.2(CACNA1A):c.3134C>G (p.Ser1045Ter) rs2144889289
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val) rs1599294284
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup) rs776584949
NM_001127222.2(CACNA1A):c.3411dup (p.Lys1138fs) rs746790849
NM_001127222.2(CACNA1A):c.3478_3479del (p.Ala1160fs) rs2057404744
NM_001127222.2(CACNA1A):c.3631G>T (p.Glu1211Ter) rs2057372365
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3823-1G>C
NM_001127222.2(CACNA1A):c.399+1G>A rs2060983144
NM_001127222.2(CACNA1A):c.3990-2A>G rs1057524483
NM_001127222.2(CACNA1A):c.4027T>C (p.Ser1343Pro) rs2056768058
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr) rs2056767982
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro) rs2144773045
NM_001127222.2(CACNA1A):c.4042C>T (p.Arg1348Trp) rs1064794858
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4045G>A (p.Val1349Met) rs1600198481
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln) rs1555745467
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn) rs2056767062
NM_001127222.2(CACNA1A):c.4067_4069del (p.Ile1356del)
NM_001127222.2(CACNA1A):c.4073G>A (p.Arg1358Gln)
NM_001127222.2(CACNA1A):c.4089+1G>A
NM_001127222.2(CACNA1A):c.4261del (p.Leu1421fs)
NM_001127222.2(CACNA1A):c.4270G>T (p.Glu1424Ter)
NM_001127222.2(CACNA1A):c.4314T>G (p.Tyr1438Ter)
NM_001127222.2(CACNA1A):c.4363G>A (p.Val1455Met) rs121908237
NM_001127222.2(CACNA1A):c.4466T>C (p.Phe1489Ser) rs121908233
NM_001127222.2(CACNA1A):c.4534A>G (p.Thr1512Ala)
NM_001127222.2(CACNA1A):c.4549G>A (p.Gly1517Arg) rs2144748225
NM_001127222.2(CACNA1A):c.4591-2A>G rs1600180659
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val) rs2056510928
NM_001127222.2(CACNA1A):c.4866+1G>T rs2144725957
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn) rs1555740805
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001127222.2(CACNA1A):c.4927G>T (p.Asp1643Tyr)
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro) rs1568447650
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys) rs794727558
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro) rs1057519429
NM_001127222.2(CACNA1A):c.5032C>A (p.Arg1678Ser)
NM_001127222.2(CACNA1A):c.5033dup (p.Ile1679fs)
NM_001127222.2(CACNA1A):c.5056C>T (p.Gln1686Ter) rs1600139781
NM_001127222.2(CACNA1A):c.5060C>T (p.Ser1687Phe) rs1568447557
NM_001127222.2(CACNA1A):c.5068-1G>A rs2144648058
NM_001127222.2(CACNA1A):c.5072T>A (p.Leu1691Gln) rs2055835744
NM_001127222.2(CACNA1A):c.5104TTC[1] (p.Phe1703del) rs2144647916
NM_001127222.2(CACNA1A):c.5120T>C (p.Ile1707Thr) rs2144647872
NM_001127222.2(CACNA1A):c.5122A>C (p.Ile1708Leu) rs2144647855
NM_001127222.2(CACNA1A):c.5133+2T>A
NM_001127222.2(CACNA1A):c.5134-2del
NM_001127222.2(CACNA1A):c.519C>A (p.Asp173Glu) rs2144936093
NM_001127222.2(CACNA1A):c.5250-2A>G
NM_001127222.2(CACNA1A):c.5264A>G (p.Glu1755Gly)
NM_001127222.2(CACNA1A):c.5273ACA[1] (p.Asn1759del) rs2055675454
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001127222.2(CACNA1A):c.540-1G>C rs2144559526
NM_001127222.2(CACNA1A):c.5417T>C (p.Val1806Ala) rs2144622461
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001127222.2(CACNA1A):c.5425A>G (p.Ile1809Val)
NM_001127222.2(CACNA1A):c.5426T>C (p.Ile1809Thr) rs2055612479
NM_001127222.2(CACNA1A):c.5439dup (p.Glu1814Ter) rs2055612253
NM_001127222.2(CACNA1A):c.548C>T (p.Ala183Val)
NM_001127222.2(CACNA1A):c.5529-1215C>T rs2144616690
NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del rs1568440440
NM_001127222.2(CACNA1A):c.5529-1270A>G
NM_001127222.2(CACNA1A):c.5839+1G>C rs951196653
NM_001127222.2(CACNA1A):c.5840-2A>G rs2144536202
NM_001127222.2(CACNA1A):c.5840-2A>T rs2144536202
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) rs797045424
NM_001127222.2(CACNA1A):c.5940+1G>A rs2144535495
NM_001127222.2(CACNA1A):c.6189+1G>A rs2144524396
NM_001127222.2(CACNA1A):c.6190-2A>C rs1064796709
NM_001127222.2(CACNA1A):c.6303+1G>A rs1600088360
NM_001127222.2(CACNA1A):c.631+2T>C
NM_001127222.2(CACNA1A):c.631+5G>A rs786200963
NM_001127222.2(CACNA1A):c.6358C>T (p.Pro2120Ser) rs2054721635
NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter) rs1555730878
NM_001127222.2(CACNA1A):c.644T>C (p.Val215Ala) rs1599292631
NM_001127222.2(CACNA1A):c.652T>C (p.Ser218Pro) rs2144523407
NM_001127222.2(CACNA1A):c.653C>G (p.Ser218Trp) rs121908225
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127222.2(CACNA1A):c.674C>G (p.Pro225Arg) rs2059190701
NM_001127222.2(CACNA1A):c.676_784+1178del
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg) rs1057522420
NM_001127222.2(CACNA1A):c.688G>A (p.Gly230Ser) rs1555774859
NM_001127222.2(CACNA1A):c.688G>C (p.Gly230Arg) rs1555774859
NM_001127222.2(CACNA1A):c.757C>T (p.His253Tyr) rs121908228
NM_001127222.2(CACNA1A):c.816T>A (p.Cys272Ter)
NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr) rs1013100046
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn) rs863224852
NM_001127222.2(CACNA1A):c.905A>G (p.Asp302Gly) rs2059067761
NM_001127222.2(CACNA1A):c.949A>C (p.Met317Leu)
NM_001127222.2(CACNA1A):c.978+1G>C rs2145245078

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