ClinVar Miner

List of variants in gene CACNA1D studied for aldosterone-producing adenoma with seizures and neurological abnormalities

Included ClinVar conditions (2):
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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001128840.3(CACNA1D):c.2407-17T>C rs2612033 0.87820
NM_001128840.3(CACNA1D):c.-54T>C rs312480 0.84251
NM_001128840.3(CACNA1D):c.2812-43T>C rs2612026 0.76939
NM_001128840.3(CACNA1D):c.3007-71G>C rs2612024 0.76839
NM_001128840.3(CACNA1D):c.4045-57G>C rs2278517 0.67693
NM_001128840.3(CACNA1D):c.4690+42G>A rs1829423 0.65647
NM_001128840.3(CACNA1D):c.1104T>C (p.Asp368=) rs2250736 0.64657
NM_001128840.3(CACNA1D):c.2473+103A>T rs2306866 0.58204
NM_001128840.3(CACNA1D):c.2700C>T (p.Ser900=) rs1045958 0.25881
NM_001128840.3(CACNA1D):c.6348C>T (p.Asn2116=) rs10154841 0.24426
NM_001128840.3(CACNA1D):c.4045-43G>A rs35146621 0.20735
NM_001128840.3(CACNA1D):c.3954C>T (p.Phe1318=) rs17053501 0.04168
NM_001128840.3(CACNA1D):c.6051G>A (p.Pro2017=) rs34388124 0.02654
NM_001128840.3(CACNA1D):c.927A>G (p.Val309=) rs33970402 0.02106
NM_001128840.3(CACNA1D):c.3870+13C>G rs148858045 0.00567
NM_001128840.3(CACNA1D):c.1220+700C>T rs117630105 0.00535
NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser) rs72556360 0.00534
NM_001128840.3(CACNA1D):c.264C>T (p.Tyr88=) rs28365112 0.00496
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=) rs147336902 0.00391
NM_001128840.3(CACNA1D):c.222C>T (p.Pro74=) rs140749530 0.00053
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro) rs199874790 0.00035
NM_001128840.3(CACNA1D):c.2552T>G (p.Leu851Trp) rs186968009 0.00026
NM_000720.4(CACNA1D):c.1480T>C (p.Cys494Arg) rs201775251 0.00015
NM_001128840.3(CACNA1D):c.5837G>A (p.Arg1946His) rs150366975 0.00007
NM_001128840.3(CACNA1D):c.3038G>A (p.Arg1013Gln) rs150147528 0.00005
NM_001128840.3(CACNA1D):c.6349G>A (p.Gly2117Arg) rs773604700 0.00004
NM_001128840.3(CACNA1D):c.1479-19C>T rs377304772 0.00003
NM_001128840.3(CACNA1D):c.1678A>G (p.Lys560Glu) rs758865477 0.00002
NM_001128840.3(CACNA1D):c.6061C>T (p.Arg2021Cys) rs779080006 0.00002
NM_001128840.3(CACNA1D):c.149T>C (p.Val50Ala) rs935163999 0.00001
NM_001128840.3(CACNA1D):c.2143A>G (p.Ile715Val) rs2094940956 0.00001
NM_001128840.3(CACNA1D):c.2146A>G (p.Met716Val) rs775056182 0.00001
NM_001128840.3(CACNA1D):c.4924-6A>G rs1475661078 0.00001
NM_001128840.3(CACNA1D):c.5255C>T (p.Thr1752Ile) rs201147414 0.00001
NM_001128840.3(CACNA1D):c.5492A>G (p.His1831Arg) rs1176833638 0.00001
NM_001128840.3(CACNA1D):c.6076A>G (p.Thr2026Ala) rs145573139 0.00001
NM_000720.4(CACNA1D):c.1208G>A (p.Gly403Asp) rs386834264
NM_001128840.3(CACNA1D):c.1372G>C (p.Glu458Gln) rs1193226150
NM_001128840.3(CACNA1D):c.1958T>C (p.Leu653Pro) rs2108724010
NM_001128840.3(CACNA1D):c.2222-1G>A
NM_001128840.3(CACNA1D):c.2250C>G (p.Ile750Met) rs41276445
NM_001128840.3(CACNA1D):c.2473G>A (p.Val825Ile) rs2094998922
NM_001128840.3(CACNA1D):c.2569A>C (p.Ile857Leu) rs142057539
NM_001128840.3(CACNA1D):c.3119A>G (p.Lys1040Arg)
NM_001128840.3(CACNA1D):c.484-53385T>G rs2107845171
NM_001128840.3(CACNA1D):c.4863A>T (p.Lys1621Asn) rs2109109769
NM_001128840.3(CACNA1D):c.5098T>G (p.Ser1700Ala)
NM_001128840.3(CACNA1D):c.5203T>G (p.Ser1735Ala)
NM_001128840.3(CACNA1D):c.5498A>G (p.Tyr1833Cys) rs1559716901
NM_001128840.3(CACNA1D):c.5587C>T (p.Gln1863Ter) rs528674015
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363
NM_001128840.3(CACNA1D):c.5906C>A (p.Ala1969Asp) rs2095587946
NM_001128840.3(CACNA1D):c.5940G>C (p.Ser1980=) rs767458712
NM_001128840.3(CACNA1D):c.6115G>C (p.Ala2039Pro)
NM_001128840.3(CACNA1D):c.6279C>A (p.Asp2093Glu)
NM_001128840.3(CACNA1D):c.6286A>G (p.Ile2096Val)
NM_001128840.3(CACNA1D):c.658G>C (p.Glu220Gln) rs2094189629
NM_001128840.3(CACNA1D):c.971G>A (p.Arg324His) rs1186152619

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