List of variants in gene CC2D1A reported as pathogenic for carbohydrate metabolism disease

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_017721.5(CC2D1A):c.2347C>T (p.Arg783Ter)	rs779620838	0.00001
NM_017721.5(CC2D1A):c.1764+1G>C	rs2145350143
NM_017721.5(CC2D1A):c.2693del (p.Gly898fs)	rs1423002835

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