ClinVar Miner

Variants in gene CACNA1D with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser) rs35874056
NM_001128840.3(CACNA1D):c.2250C>A (p.Ile750=) rs41276445
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=) rs150266932
NM_001128840.3(CACNA1D):c.6417C>T (p.Asp2139=) rs375811590

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