ClinVar Miner

List of variants reported as uncertain significance for aldosterone-producing adenoma with seizures and neurological abnormalities

Included ClinVar conditions (2):
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro) rs199874790 0.00035
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.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.3413T>C (p.Ile1138Thr) rs146540139 0.00001
NM_001128840.3(CACNA1D):c.4924-6A>G rs1475661078 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_001128840.3(CACNA1D):c.1372G>C (p.Glu458Gln) rs1193226150
NM_001128840.3(CACNA1D):c.1958T>C (p.Leu653Pro) rs2108724010
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.3455T>C (p.Ile1152Thr) rs2108865550
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.5906C>A (p.Ala1969Asp) rs2095587946
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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