List of variants in gene GMPPB reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)	rs142336618	0.00054
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)	rs202160208	0.00019
NM_021971.4(GMPPB):c.988G>A (p.Val330Ile)	rs199922550	0.00005
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr)	rs761714818	0.00004

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