ClinVar Miner

List of variants in gene CACNA1D reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 158
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001128840.3(CACNA1D):c.2336+88del rs200545333 0.03117
NM_001128840.3(CACNA1D):c.483+108del rs55830580 0.02175
NM_001128840.3(CACNA1D):c.2752-129C>A rs74698390 0.01428
NM_001128840.3(CACNA1D):c.2752-228G>A rs114779404 0.01421
NM_001128840.3(CACNA1D):c.1666+295C>T rs114070747 0.01416
NM_001128840.3(CACNA1D):c.1505+207A>G rs73840931 0.01342
NM_001128840.3(CACNA1D):c.920-89G>A rs78520126 0.01305
NM_001128840.3(CACNA1D):c.4691-211G>A rs76650650 0.01224
NM_001128840.3(CACNA1D):c.5750-21T>C rs73843320 0.01180
NM_001128840.3(CACNA1D):c.1666+159C>T rs115254981 0.01146
NM_001128840.3(CACNA1D):c.5040+120G>C rs73843309 0.01066
NM_001128840.3(CACNA1D):c.4923+187G>A rs9654000 0.01063
NM_001128840.3(CACNA1D):c.1390+158G>A rs13326101 0.01049
NM_001128840.3(CACNA1D):c.3676-123C>T rs72556359 0.01044
NM_001128840.3(CACNA1D):c.920-240_920-217dup rs371479975 0.01017
NM_001128840.3(CACNA1D):c.3675+204C>T rs76226957 0.01006
NM_001128840.3(CACNA1D):c.1506-194C>T rs80059617 0.00965
NM_001128840.3(CACNA1D):c.4363-268C>T rs115073789 0.00942
NM_001128840.3(CACNA1D):c.5409-239A>G rs80041837 0.00932
NM_001128840.3(CACNA1D):c.1221-72G>A rs58591238 0.00925
NM_001128840.3(CACNA1D):c.4792+111G>A rs116200482 0.00863
NM_001128840.3(CACNA1D):c.5871+94G>T rs72556365 0.00861
NM_001128840.3(CACNA1D):c.5585+241G>A rs116459764 0.00855
NM_001128840.3(CACNA1D):c.5585+80G>A rs78079551 0.00836
NM_001128840.3(CACNA1D):c.5585+275C>T rs189557335 0.00829
NM_001128840.3(CACNA1D):c.2100+279A>G rs9864070 0.00809
NM_001128840.3(CACNA1D):c.919+245A>G rs138827084 0.00802
NM_001128840.3(CACNA1D):c.2101-312G>T rs112942905 0.00793
NM_001128840.3(CACNA1D):c.5435+230A>G rs111924405 0.00782
NM_001128840.3(CACNA1D):c.2812-325dup rs200361125 0.00750
NM_001128840.3(CACNA1D):c.5749+257A>T rs115371368 0.00748
NM_001128840.3(CACNA1D):c.4923+239C>T rs116285577 0.00729
NM_001128840.3(CACNA1D):c.5871+47A>C rs60290876 0.00693
NM_001128840.3(CACNA1D):c.5585+305G>A rs145596013 0.00632
NM_001128840.3(CACNA1D):c.766+107G>T rs76894271 0.00625
NM_001128840.3(CACNA1D):c.3786+149G>A rs79933806 0.00613
NM_001128840.3(CACNA1D):c.5750-226A>C rs115931630 0.00613
NM_001128840.3(CACNA1D):c.3786+289T>C rs56351621 0.00604
NM_001128840.3(CACNA1D):c.2751+166G>T rs115532377 0.00577
NM_001128840.3(CACNA1D):c.3676-135C>T rs72556358 0.00573
NM_001128840.3(CACNA1D):c.3870+13C>G rs148858045 0.00567
NM_001128840.3(CACNA1D):c.3916-180C>T rs143501018 0.00563
NM_001128840.3(CACNA1D):c.4587+208G>A rs147785092 0.00549
NM_001128840.3(CACNA1D):c.4691-121G>A rs145833037 0.00513
NM_001128840.3(CACNA1D):c.2811+269T>G rs138274940 0.00493
NM_001128840.3(CACNA1D):c.1391-182C>T rs186025688 0.00477
NM_001128840.3(CACNA1D):c.1478+483C>G rs572996475 0.00473
NM_001128840.3(CACNA1D):c.4924-161A>G rs190325478 0.00469
NM_001128840.3(CACNA1D):c.3168-67C>A rs200029348 0.00468
NM_001128840.3(CACNA1D):c.5872-81G>A rs140773837 0.00466
NM_001128840.3(CACNA1D):c.2473+274C>T rs575184100 0.00451
NM_001128840.3(CACNA1D):c.4111-116A>G rs79743964 0.00435
NM_001128840.3(CACNA1D):c.4044+268G>A rs75563213 0.00426
NM_001128840.3(CACNA1D):c.1391-130C>T rs111792297 0.00423
NM_001128840.3(CACNA1D):c.5585+79C>T rs114106261 0.00384
NM_001128840.3(CACNA1D):c.2406+199A>G rs78386061 0.00371
NM_001128840.3(CACNA1D):c.3315-50G>A rs56361191 0.00369
NM_001128840.3(CACNA1D):c.4045-55G>A rs377111118 0.00358
NM_001128840.3(CACNA1D):c.5408+262C>T rs142957022 0.00354
NM_001128840.3(CACNA1D):c.2221+326C>T rs116440980 0.00353
NM_001128840.3(CACNA1D):c.2811+238T>G rs556006821 0.00334
NM_001128840.3(CACNA1D):c.2918+212G>C rs139538561 0.00330
NM_001128840.3(CACNA1D):c.3786+126G>A rs76619739 0.00305
NM_001128840.3(CACNA1D):c.1220+18C>A rs147437617 0.00215
NM_001128840.3(CACNA1D):c.4588-23G>T rs78413425 0.00202
NM_001128840.3(CACNA1D):c.4793-306A>C rs115135403 0.00160
NM_001128840.3(CACNA1D):c.5872-29G>A rs200831586 0.00143
NM_001128840.3(CACNA1D):c.6437G>A (p.Arg2146Lys) rs150838215 0.00143
NM_001128840.3(CACNA1D):c.2407-29C>T rs34227522 0.00138
NM_001128840.3(CACNA1D):c.2407-22C>T rs201367935 0.00130
NM_001128840.3(CACNA1D):c.920-13G>C rs199688715 0.00122
NM_001128840.3(CACNA1D):c.3168-6C>G rs72556355 0.00118
NM_001128840.3(CACNA1D):c.3315-126T>C rs564787437 0.00117
NM_001128840.3(CACNA1D):c.1344C>T (p.Ile448=) rs145203578 0.00105
NM_001128840.3(CACNA1D):c.3315-28G>C rs181761495 0.00105
NM_001128840.3(CACNA1D):c.5378G>A (p.Arg1793Gln) rs143003364 0.00105
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=) rs150266932 0.00101
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met) rs35090700 0.00099
NM_001128840.3(CACNA1D):c.5496C>T (p.Gly1832=) rs149746093 0.00094
NM_001128840.3(CACNA1D):c.2221+34C>T rs370989490 0.00080
NM_001128840.3(CACNA1D):c.3315-181T>A rs141345680 0.00079
NM_001128840.3(CACNA1D):c.5017G>A (p.Glu1673Lys) rs147973409 0.00073
NM_001128840.3(CACNA1D):c.3315-109C>T rs578240424 0.00060
NM_001128840.3(CACNA1D):c.222C>T (p.Pro74=) rs140749530 0.00053
NM_001128840.3(CACNA1D):c.6417C>T (p.Asp2139=) rs375811590 0.00043
NM_001128840.3(CACNA1D):c.1477T>A (p.Cys493Ser) rs139380111 0.00037
NM_001128840.3(CACNA1D):c.4793-254A>C rs76105596 0.00036
NM_001128840.3(CACNA1D):c.1557C>T (p.Ala519=) rs144229993 0.00034
NM_001128840.3(CACNA1D):c.3870+35C>T rs77169791 0.00033
NM_001128840.3(CACNA1D):c.459T>C (p.Asp153=) rs6805302 0.00029
NM_001128840.3(CACNA1D):c.2742C>T (p.Phe914=) rs147601660 0.00027
NM_001128840.3(CACNA1D):c.2853C>T (p.Cys951=) rs147169370 0.00027
NM_001128840.3(CACNA1D):c.377+13T>G rs185674174 0.00027
NM_001128840.3(CACNA1D):c.3916-36T>G rs199673609 0.00027
NM_001128840.3(CACNA1D):c.2552T>G (p.Leu851Trp) rs186968009 0.00026
NM_001128840.3(CACNA1D):c.4977G>A (p.Ser1659=) rs150463212 0.00025
NM_001128840.3(CACNA1D):c.1887G>A (p.Val629=) rs138898295 0.00024
NM_001128840.3(CACNA1D):c.6444G>A (p.Glu2148=) rs373851693 0.00024
NM_001128840.3(CACNA1D):c.825C>T (p.Ala275=) rs193196995 0.00019
NM_001128840.3(CACNA1D):c.3821C>T (p.Ser1274Phe) rs200382504 0.00018
NM_001128840.3(CACNA1D):c.2182G>A (p.Val728Ile) rs184573217 0.00017
NM_001128840.3(CACNA1D):c.2406+5G>A rs193270389 0.00017
NM_001128840.3(CACNA1D):c.4671T>C (p.Ala1557=) rs368264655 0.00016
NM_001128840.3(CACNA1D):c.3676-6C>T rs536823643 0.00015
NM_001128840.3(CACNA1D):c.1590C>T (p.Ile530=) rs200605154 0.00013
NM_000720.4(CACNA1D):c.1504G>A (p.Ala502Thr) rs773409037 0.00010
NM_001128840.3(CACNA1D):c.3007-4G>A rs371031025 0.00010
NM_001128840.3(CACNA1D):c.6193-32C>A rs201624722 0.00009
NM_001128840.3(CACNA1D):c.3115-3C>T rs779910083 0.00008
NM_001128840.3(CACNA1D):c.3675+25A>G rs190312196 0.00008
NM_001128840.3(CACNA1D):c.6258C>T (p.His2086=) rs774046259 0.00007
NM_001128840.3(CACNA1D):c.1023C>T (p.Asn341=) rs201819347 0.00006
NM_001128840.3(CACNA1D):c.2022C>G (p.Gly674=) rs574489819 0.00006
NM_001128840.3(CACNA1D):c.4924-51C>T rs757047041 0.00006
NM_001128840.3(CACNA1D):c.5439C>T (p.Ser1813=) rs761519681 0.00006
NM_001128840.3(CACNA1D):c.68-8C>T rs192959416 0.00006
NM_001128840.3(CACNA1D):c.920-39T>G rs749278134 0.00004
NM_001128840.3(CACNA1D):c.1647T>C (p.Asp549=) rs769205525 0.00003
NM_001128840.3(CACNA1D):c.3681C>T (p.Tyr1227=) rs750641374 0.00003
NM_001128840.3(CACNA1D):c.3739G>T (p.Val1247Leu) rs754732747 0.00003
NM_001128840.3(CACNA1D):c.3747C>T (p.Thr1249=) rs148428333 0.00003
NM_001128840.3(CACNA1D):c.5440G>A (p.Asp1814Asn) rs767284638 0.00003
NM_001128840.3(CACNA1D):c.5814G>A (p.Pro1938=) rs776968811 0.00003
NM_001128840.3(CACNA1D):c.2307G>A (p.Ala769=) rs772915273 0.00002
NM_001128840.3(CACNA1D):c.2730C>T (p.Arg910=) rs139415202 0.00001
NM_001128840.3(CACNA1D):c.4494A>G (p.Gly1498=) rs746446017 0.00001
NM_001128840.3(CACNA1D):c.5118C>T (p.Thr1706=) rs760713903 0.00001
NM_001128840.3(CACNA1D):c.6393G>A (p.Gln2131=) rs200001131 0.00001
NM_001128840.3(CACNA1D):c.-178dup rs112104996
NM_001128840.3(CACNA1D):c.1117-204_1117-201del rs1215090818
NM_001128840.3(CACNA1D):c.1117-206_1117-201del rs57848747
NM_001128840.3(CACNA1D):c.1221-3C>T rs1576399962
NM_001128840.3(CACNA1D):c.1478+382G>T rs773813678
NM_001128840.3(CACNA1D):c.1667-302A>T rs898409
NM_001128840.3(CACNA1D):c.2061C>T (p.Thr687=) rs377165258
NM_001128840.3(CACNA1D):c.2101-232A>G rs35025659
NM_001128840.3(CACNA1D):c.2222-267T>G rs75331462
NM_001128840.3(CACNA1D):c.2406+161del rs151218017
NM_001128840.3(CACNA1D):c.2407-34C>A rs202134928
NM_001128840.3(CACNA1D):c.2474-243G>C rs115024655
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=) rs36061665
NM_001128840.3(CACNA1D):c.3279G>T (p.Ala1093=) rs36061665
NM_001128840.3(CACNA1D):c.3314+69G>C rs72556356
NM_001128840.3(CACNA1D):c.3516+46G>C rs200761818
NM_001128840.3(CACNA1D):c.3701A>G (p.Asn1234Ser) rs147146258
NM_001128840.3(CACNA1D):c.3787-220G>C rs116163097
NM_001128840.3(CACNA1D):c.3787-252GT[11] rs111473773
NM_001128840.3(CACNA1D):c.3787-252GT[12] rs111473773
NM_001128840.3(CACNA1D):c.4110+19G>C rs375161264
NM_001128840.3(CACNA1D):c.4203-207del rs111566041
NM_001128840.3(CACNA1D):c.4588-141C>T rs143565370
NM_001128840.3(CACNA1D):c.483+345del rs750904996
NM_001128840.3(CACNA1D):c.5016AGA[3] (p.Glu1675del) rs778776240
NM_001128840.3(CACNA1D):c.5692G>A (p.Val1898Ile) rs142184099
NM_001128840.3(CACNA1D):c.5872-66C>G rs575825068
NM_001128840.3(CACNA1D):c.5872-66C>T rs575825068
NM_001128840.3(CACNA1D):c.623+61G>T rs187796549
NM_001128840.3(CACNA1D):c.767-12dup rs545367514

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.