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: 12
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HGVS dbSNP
NM_001128840.3(CACNA1D):c.2552T>G (p.Leu851Trp) rs186968009
NM_001128840.3(CACNA1D):c.2853C>T (p.Cys951=) rs147169370
NM_001128840.3(CACNA1D):c.3168-6C>G rs72556355
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=) rs36061665
NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser) rs72556360
NM_001128840.3(CACNA1D):c.4686C>T (p.Thr1562=) rs74534595
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363
NM_001128840.3(CACNA1D):c.6111A>G (p.Thr2037=) rs76868547
NM_001128840.3(CACNA1D):c.6437G>A (p.Arg2146Lys) rs150838215
NM_001128840.3(CACNA1D):c.6444G>A (p.Glu2148=) rs373851693
NM_001128840.3(CACNA1D):c.825C>T (p.Ala275=) rs193196995
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=) rs147336902

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