ClinVar Miner

Variants in gene CACNA2D4 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_172364.5(CACNA2D4):c.3356C>T (p.Pro1119Leu) rs145150489 0.00210
NM_172364.5(CACNA2D4):c.1509C>T (p.Ser503=) rs199888783 0.00030
NM_172364.5(CACNA2D4):c.2516C>T (p.Ala839Val) rs146752598 0.00016
NM_172364.5(CACNA2D4):c.1807-4del rs756122685 0.00011
NM_172364.5(CACNA2D4):c.2054+4A>T rs200648405 0.00005
NM_172364.5(CACNA2D4):c.2046C>T (p.Ala682=) rs116214586

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