List of variants in gene PIDD1 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_145886.4(PIDD1):c.2584C>T (p.Arg862Trp)	rs747620551	0.00002
NM_145886.4(PIDD1):c.2443C>T (p.Arg815Trp)	rs758859772	0.00001
NM_145886.4(PIDD1):c.1804_1805del (p.Gly602fs)	rs2133768184
NM_145886.4(PIDD1):c.1909C>T (p.Arg637Ter)
NM_145886.4(PIDD1):c.202_203del (p.Arg68fs)
NM_145886.4(PIDD1):c.2116_2120del (p.Val706fs)	rs2133759109
NM_145886.4(PIDD1):c.2275-1G>A	rs2133753509
NM_145886.4(PIDD1):c.2587C>T (p.Gln863Ter)	rs1224174574

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