ClinVar Miner

List of variants in gene CACNA1D reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 16
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HGVS dbSNP gnomAD frequency
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_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.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.6076A>G (p.Thr2026Ala) rs145573139 0.00001
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363

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