List of variants in gene CACNA2D2 reported as pathogenic for cerebellar atrophy with seizures and variable developmental delay

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_006030.4(CACNA2D2):c.782C>T (p.Pro261Leu)	rs1211603072	0.00001
NM_006030.4(CACNA2D2):c.829C>T (p.Arg277Ter)	rs1477583336	0.00001
NM_006030.4(CACNA2D2):c.1126G>T (p.Glu376Ter)
NM_006030.4(CACNA2D2):c.1295del (p.Asn432fs)	rs587777165
NM_006030.4(CACNA2D2):c.1701+2T>C	rs1704971986
NM_006030.4(CACNA2D2):c.1840del (p.Asp614fs)	rs2106640003

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