List of variants in gene combination DBNL, PGAM2 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp)	rs77938727	0.00026
NM_000290.4(PGAM2):c.20del (p.Val7fs)	rs764567774	0.00005
NM_000290.4(PGAM2):c.268C>T (p.Arg90Trp)	rs104894034	0.00001
NM_000290.4(PGAM2):c.160del (p.Ile54fs)
NM_000290.4(PGAM2):c.173C>G (p.Ser58Ter)
NM_000290.4(PGAM2):c.533del (p.Gly178fs)	rs747947171
NM_000290.4(PGAM2):c.538C>T (p.Arg180Ter)

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