ClinVar Miner

Variants in gene CACNA1D with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 34
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HGVS dbSNP gnomAD frequency
NM_001128840.3(CACNA1D):c.3870+13C>G rs148858045 0.00567
NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser) rs72556360 0.00534
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=) rs147336902 0.00391
NM_001128840.3(CACNA1D):c.1407C>T (p.Ser469=) rs146730044 0.00234
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=) rs146747080 0.00183
NM_001128840.3(CACNA1D):c.6437G>A (p.Arg2146Lys) rs150838215 0.00143
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.1344C>T (p.Ile448=) rs145203578 0.00105
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=) rs150266932 0.00101
NM_001128840.3(CACNA1D):c.5496C>T (p.Gly1832=) rs149746093 0.00095
NM_001128840.3(CACNA1D):c.3252C>T (p.Phe1084=) rs139767790 0.00039
NM_001128840.3(CACNA1D):c.2742C>T (p.Phe914=) rs147601660 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.3854C>T (p.Ala1285Val) rs371512946 0.00023
NM_001128840.3(CACNA1D):c.377+13T>G rs185674174 0.00021
NM_001128840.3(CACNA1D):c.3297G>A (p.Thr1099=) rs151094357 0.00019
NM_001128840.3(CACNA1D):c.2406+5G>A rs193270389 0.00017
NM_001128840.3(CACNA1D):c.2853C>T (p.Cys951=) rs147169370 0.00017
NM_001128840.3(CACNA1D):c.4671T>C (p.Ala1557=) rs368264655 0.00016
NM_001128840.3(CACNA1D):c.1590C>T (p.Ile530=) rs200605154 0.00014
NM_001128840.3(CACNA1D):c.6444G>A (p.Glu2148=) rs373851693 0.00014
NM_001128840.3(CACNA1D):c.825C>T (p.Ala275=) rs193196995 0.00014
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.68-8C>T rs192959416 0.00006
NM_001128840.3(CACNA1D):c.1647T>C (p.Asp549=) rs769205525 0.00003
NM_001128840.3(CACNA1D):c.2562G>A (p.Lys854=) rs1332817040 0.00001
NM_001128840.3(CACNA1D):c.3676-6C>T rs536823643 0.00001
NM_001128840.3(CACNA1D):c.6393G>A (p.Gln2131=) rs200001131 0.00001
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=) rs36061665
NM_001128840.3(CACNA1D):c.4110+19G>C rs375161264
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363

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