ClinVar Miner

List of variants in gene CACNA1A reported as uncertain significance for Inborn genetic diseases

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Total variants: 167
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.3035C>A (p.Thr1012Lys) rs573941336 0.00023
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077 0.00022
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg) rs190551509 0.00013
NM_001127222.2(CACNA1A):c.5155G>A (p.Asp1719Asn) rs368257155 0.00010
NM_001127222.2(CACNA1A):c.1225A>C (p.Thr409Pro) rs187259531 0.00009
NM_001127222.2(CACNA1A):c.3166C>T (p.Arg1056Cys) rs187393245 0.00009
NM_001127222.2(CACNA1A):c.6527G>T (p.Gly2176Val) rs763045560 0.00008
NM_001127222.2(CACNA1A):c.2257G>A (p.Ala753Thr) rs17846944 0.00007
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr) rs201666606 0.00006
NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln) rs769040794 0.00006
NM_001127222.2(CACNA1A):c.6266G>A (p.Arg2089Gln) rs1033214914 0.00006
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_001127222.2(CACNA1A):c.6379G>A (p.Val2127Met) rs368183370 0.00005
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384 0.00004
NM_001127222.2(CACNA1A):c.2677C>T (p.Arg893Trp) rs1262547488 0.00004
NM_001127222.2(CACNA1A):c.3122G>T (p.Gly1041Val) rs370396470 0.00004
NM_001127222.2(CACNA1A):c.3226G>A (p.Ala1076Thr) rs554091859 0.00004
NM_001127222.2(CACNA1A):c.4879G>A (p.Asp1627Asn) rs573209959 0.00004
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln) rs745775887 0.00004
NM_001127222.2(CACNA1A):c.1442G>A (p.Arg481His) rs763944721 0.00003
NM_001127222.2(CACNA1A):c.2765G>T (p.Arg922Leu) rs752824390 0.00003
NM_001127222.2(CACNA1A):c.4411G>A (p.Ala1471Thr) rs1187916307 0.00003
NM_001127222.2(CACNA1A):c.5932G>A (p.Glu1978Lys) rs1266642291 0.00003
NM_001127222.2(CACNA1A):c.6665C>T (p.Pro2222Leu) rs1336146310 0.00003
NM_001127222.2(CACNA1A):c.745A>G (p.Met249Val) rs1005732031 0.00003
NM_001127222.2(CACNA1A):c.29C>T (p.Ala10Val) rs952757731 0.00002
NM_001127222.2(CACNA1A):c.4662C>G (p.Phe1554Leu) rs182161386 0.00002
NM_001127222.2(CACNA1A):c.5986A>G (p.Thr1996Ala) rs141963371 0.00002
NM_001127222.2(CACNA1A):c.6140C>T (p.Pro2047Leu) rs539347883 0.00002
NM_001127222.2(CACNA1A):c.6460C>T (p.Arg2154Trp) rs1374160355 0.00002
NM_001127222.2(CACNA1A):c.6467G>A (p.Arg2156His) rs755749925 0.00002
NM_001127222.2(CACNA1A):c.6550A>G (p.Thr2184Ala) rs1028538547 0.00002
NM_001127222.2(CACNA1A):c.6610G>A (p.Asp2204Asn) rs747673128 0.00002
NM_001127222.2(CACNA1A):c.1121G>A (p.Arg374Gln) rs865831227 0.00001
NM_001127222.2(CACNA1A):c.1231G>A (p.Gly411Arg) rs1448345243 0.00001
NM_001127222.2(CACNA1A):c.1546G>A (p.Asp516Asn) rs185034915 0.00001
NM_001127222.2(CACNA1A):c.1696A>C (p.Ile566Leu) rs1568519066 0.00001
NM_001127222.2(CACNA1A):c.2172+8C>T rs200277127 0.00001
NM_001127222.2(CACNA1A):c.2258C>T (p.Ala753Val) rs200355966 0.00001
NM_001127222.2(CACNA1A):c.2281A>G (p.Lys761Glu) rs1196111017 0.00001
NM_001127222.2(CACNA1A):c.2287C>A (p.Gln763Lys) rs2057741441 0.00001
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser) rs760816963 0.00001
NM_001127222.2(CACNA1A):c.2638C>T (p.Arg880Trp) rs1408152396 0.00001
NM_001127222.2(CACNA1A):c.2696G>A (p.Arg899His) rs1290079536 0.00001
NM_001127222.2(CACNA1A):c.2872C>A (p.His958Asn) rs923472334 0.00001
NM_001127222.2(CACNA1A):c.2891C>A (p.Pro964His) rs1161926847 0.00001
NM_001127222.2(CACNA1A):c.2932C>T (p.Arg978Trp) rs1361244265 0.00001
NM_001127222.2(CACNA1A):c.294-4A>G rs1400044284 0.00001
NM_001127222.2(CACNA1A):c.3004A>G (p.Arg1002Gly) rs1175036875 0.00001
NM_001127222.2(CACNA1A):c.3167G>A (p.Arg1056His) rs200850308 0.00001
NM_001127222.2(CACNA1A):c.3247G>A (p.Gly1083Ser) rs753077104 0.00001
NM_001127222.2(CACNA1A):c.3262G>A (p.Ala1088Thr) rs371820430 0.00001
NM_001127222.2(CACNA1A):c.3331G>T (p.Ala1111Ser) rs1215692574 0.00001
NM_001127222.2(CACNA1A):c.3347C>T (p.Pro1116Leu) rs760744104 0.00001
NM_001127222.2(CACNA1A):c.3429C>G (p.Ser1143Arg) rs746195332 0.00001
NM_001127222.2(CACNA1A):c.3700C>T (p.Arg1234Cys) rs781738239 0.00001
NM_001127222.2(CACNA1A):c.4516G>T (p.Val1506Leu) rs1322080885 0.00001
NM_001127222.2(CACNA1A):c.4670G>A (p.Arg1557His) rs755172189 0.00001
NM_001127222.2(CACNA1A):c.5174G>A (p.Ser1725Asn) rs766254024 0.00001
NM_001127222.2(CACNA1A):c.5336G>A (p.Arg1779Gln) rs267605294 0.00001
NM_001127222.2(CACNA1A):c.5795A>G (p.Asn1932Ser) rs1205866071 0.00001
NM_001127222.2(CACNA1A):c.6055G>T (p.Ala2019Ser) rs1393616835 0.00001
NM_001127222.2(CACNA1A):c.6162C>A (p.Asp2054Glu) rs774164327 0.00001
NM_001127222.2(CACNA1A):c.6241T>C (p.Tyr2081His) rs1174830824 0.00001
NM_001127222.2(CACNA1A):c.6281C>T (p.Pro2094Leu) rs769128653 0.00001
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu) rs750077868 0.00001
NM_001127222.2(CACNA1A):c.6449G>A (p.Arg2150Gln) rs751044309 0.00001
NM_001127222.2(CACNA1A):c.6481C>T (p.Arg2161Cys) rs1198604369 0.00001
NM_001127222.2(CACNA1A):c.6493C>T (p.Arg2165Cys) rs746582303 0.00001
NM_001127222.2(CACNA1A):c.6526+6C>T rs1366998583 0.00001
NM_001127222.2(CACNA1A):c.6549G>A (p.Met2183Ile) rs1335828021 0.00001
NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser) rs1212952550 0.00001
NM_001127221.2(CACNA1A):c.5536C>T (p.Arg1846Trp)
NM_001127221.2(CACNA1A):c.5537G>A (p.Arg1846Gln) rs770936656
NM_001127222.2(CACNA1A):c.1088T>C (p.Phe363Ser)
NM_001127222.2(CACNA1A):c.1231G>T (p.Gly411Trp) rs1448345243
NM_001127222.2(CACNA1A):c.1271C>A (p.Thr424Asn)
NM_001127222.2(CACNA1A):c.1490C>G (p.Ala497Gly) rs1568528100
NM_001127222.2(CACNA1A):c.1669G>T (p.Val557Phe) rs1568519134
NM_001127222.2(CACNA1A):c.1830G>A (p.Met610Ile) rs2145004244
NM_001127222.2(CACNA1A):c.1876G>A (p.Val626Ile) rs1346036017
NM_001127222.2(CACNA1A):c.2020T>C (p.Tyr674His)
NM_001127222.2(CACNA1A):c.2023G>A (p.Asp675Asn) rs906669300
NM_001127222.2(CACNA1A):c.209A>G (p.Asn70Ser) rs749526415
NM_001127222.2(CACNA1A):c.2308G>A (p.Ala770Thr)
NM_001127222.2(CACNA1A):c.2381A>G (p.Tyr794Cys)
NM_001127222.2(CACNA1A):c.2385C>G (p.Asn795Lys)
NM_001127222.2(CACNA1A):c.2435G>T (p.Arg812Leu) rs953797733
NM_001127222.2(CACNA1A):c.2485G>A (p.Glu829Lys)
NM_001127222.2(CACNA1A):c.2487G>C (p.Glu829Asp) rs755434242
NM_001127222.2(CACNA1A):c.2491C>G (p.Arg831Gly)
NM_001127222.2(CACNA1A):c.2495ACA[2] (p.Asn834del) rs750962335
NM_001127222.2(CACNA1A):c.2509A>C (p.Lys837Gln)
NM_001127222.2(CACNA1A):c.2600G>C (p.Arg867Pro) rs754326939
NM_001127222.2(CACNA1A):c.2608G>T (p.Asp870Tyr)
NM_001127222.2(CACNA1A):c.2633A>T (p.Asp878Val) rs1568508904
NM_001127222.2(CACNA1A):c.2644C>T (p.Pro882Ser)
NM_001127222.2(CACNA1A):c.2645C>T (p.Pro882Leu)
NM_001127222.2(CACNA1A):c.2683G>A (p.Gly895Arg)
NM_001127222.2(CACNA1A):c.2806C>A (p.Gln936Lys)
NM_001127222.2(CACNA1A):c.2846C>G (p.Thr949Arg)
NM_001127222.2(CACNA1A):c.2867G>A (p.Arg956Gln) rs551380805
NM_001127222.2(CACNA1A):c.2867G>C (p.Arg956Pro)
NM_001127222.2(CACNA1A):c.2894G>A (p.Gly965Glu)
NM_001127222.2(CACNA1A):c.2903G>A (p.Gly968Asp)
NM_001127222.2(CACNA1A):c.2915A>G (p.Lys972Arg)
NM_001127222.2(CACNA1A):c.2921A>G (p.Glu974Gly)
NM_001127222.2(CACNA1A):c.3002G>A (p.Arg1001His)
NM_001127222.2(CACNA1A):c.3026C>T (p.Ala1009Val)
NM_001127222.2(CACNA1A):c.3089+3A>C
NM_001127222.2(CACNA1A):c.308T>C (p.Met103Thr)
NM_001127222.2(CACNA1A):c.3143G>A (p.Arg1048Gln)
NM_001127222.2(CACNA1A):c.3174C>G (p.Asp1058Glu)
NM_001127222.2(CACNA1A):c.3265G>A (p.Gly1089Ser) rs201311000
NM_001127222.2(CACNA1A):c.3365G>T (p.Arg1122Leu)
NM_001127222.2(CACNA1A):c.3390C>G (p.Asn1130Lys)
NM_001127222.2(CACNA1A):c.3414G>C (p.Lys1138Asn)
NM_001127222.2(CACNA1A):c.3442A>T (p.Asn1148Tyr)
NM_001127222.2(CACNA1A):c.3451G>C (p.Gly1151Arg)
NM_001127222.2(CACNA1A):c.3532C>G (p.Leu1178Val) rs556266465
NM_001127222.2(CACNA1A):c.3626G>A (p.Arg1209His) rs374286965
NM_001127222.2(CACNA1A):c.371A>G (p.Asp124Gly)
NM_001127222.2(CACNA1A):c.3724C>G (p.Leu1242Val) rs1275961783
NM_001127222.2(CACNA1A):c.3823-3C>T rs1057521929
NM_001127222.2(CACNA1A):c.3823G>C (p.Val1275Leu) rs995835535
NM_001127222.2(CACNA1A):c.4297C>T (p.Arg1433Trp) rs1275025158
NM_001127222.2(CACNA1A):c.4389-5T>C rs896214992
NM_001127222.2(CACNA1A):c.4579G>C (p.Glu1527Gln) rs1568468148
NM_001127222.2(CACNA1A):c.4591-5C>A
NM_001127222.2(CACNA1A):c.4612A>G (p.Ile1538Val)
NM_001127222.2(CACNA1A):c.4634G>A (p.Arg1545Gln) rs775048630
NM_001127222.2(CACNA1A):c.4636C>T (p.His1546Tyr) rs2144735184
NM_001127222.2(CACNA1A):c.4684G>A (p.Val1562Met) rs1568465560
NM_001127222.2(CACNA1A):c.4836T>G (p.Cys1612Trp) rs781413708
NM_001127222.2(CACNA1A):c.5051T>C (p.Phe1684Ser)
NM_001127222.2(CACNA1A):c.5626C>T (p.Arg1876Trp)
NM_001127222.2(CACNA1A):c.5654C>G (p.Ala1885Gly)
NM_001127222.2(CACNA1A):c.5824G>A (p.Val1942Ile)
NM_001127222.2(CACNA1A):c.5875A>G (p.Met1959Val)
NM_001127222.2(CACNA1A):c.5891A>G (p.Tyr1964Cys) rs1555732391
NM_001127222.2(CACNA1A):c.5953C>G (p.Leu1985Val)
NM_001127222.2(CACNA1A):c.5978C>T (p.Pro1993Leu)
NM_001127222.2(CACNA1A):c.5995G>C (p.Gly1999Arg)
NM_001127222.2(CACNA1A):c.602G>A (p.Arg201Gln) rs2059326410
NM_001127222.2(CACNA1A):c.6142G>A (p.Glu2048Lys) rs1568423655
NM_001127222.2(CACNA1A):c.622G>A (p.Gly208Arg) rs1568581246
NM_001127222.2(CACNA1A):c.6265C>T (p.Arg2089Trp)
NM_001127222.2(CACNA1A):c.6322C>T (p.Arg2108Cys)
NM_001127222.2(CACNA1A):c.6361A>T (p.Met2121Leu) rs1317004203
NM_001127222.2(CACNA1A):c.6367C>T (p.Arg2123Cys) rs1255940553
NM_001127222.2(CACNA1A):c.6425G>A (p.Arg2142Gln) rs1268148205
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys) rs554393704
NM_001127222.2(CACNA1A):c.6514G>T (p.Asp2172Tyr) rs370289732
NM_001127222.2(CACNA1A):c.6587_6598dup (p.Arg2199_Gly2200insAspGlnGluArg)
NM_001127222.2(CACNA1A):c.6613C>T (p.Arg2205Trp) rs780467849
NM_001127222.2(CACNA1A):c.6641_6658del (p.His2214_His2219del) rs1453912866
NM_001127222.2(CACNA1A):c.6650A>G (p.His2217Arg)
NM_001127222.2(CACNA1A):c.6659C>A (p.Pro2220His) rs16052
NM_001127222.2(CACNA1A):c.665C>T (p.Ala222Val)
NM_001127222.2(CACNA1A):c.6685G>T (p.Ala2229Ser)
NM_001127222.2(CACNA1A):c.7349G>A (p.Arg2450His)
NM_001127222.2(CACNA1A):c.7394C>T (p.Pro2465Leu)
NM_001127222.2(CACNA1A):c.7424G>T (p.Gly2475Val) rs1239663368
NM_001127222.2(CACNA1A):c.748G>A (p.Gly250Arg)
NM_001127222.2(CACNA1A):c.752A>G (p.Lys251Arg)
NM_001127222.2(CACNA1A):c.803C>T (p.Ser268Phe)
NM_001127222.2(CACNA1A):c.955G>C (p.Gly319Arg)

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