ClinVar Miner

List of variants in gene CACNA1D reported as likely benign by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 14
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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.954G>A (p.Ala318=) rs147336902 0.00391
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=) rs146747080 0.00183
NM_001128840.3(CACNA1D):c.1344C>T (p.Ile448=) rs145203578 0.00105
NM_001128840.3(CACNA1D):c.5496C>T (p.Gly1832=) rs149746093 0.00095
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro) rs199874790 0.00035
NM_001128840.3(CACNA1D):c.2742C>T (p.Phe914=) rs147601660 0.00027
NM_001128840.3(CACNA1D):c.3854C>T (p.Ala1285Val) rs371512946 0.00023
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.2562G>A (p.Lys854=) rs1332817040 0.00001
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=) rs36061665
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363

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