List of variants in gene GFPT1 reported as uncertain significance by Ambry Genetics

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001244710.2(GFPT1):c.236T>C (p.Met79Thr)	rs142871135	0.00015
NM_001244710.2(GFPT1):c.209A>G (p.Asp70Gly)	rs530830788	0.00002
NM_001244710.2(GFPT1):c.1962G>C (p.Lys654Asn)	rs368208403	0.00001
NM_001244710.2(GFPT1):c.275C>G (p.Ala92Gly)	rs755890938	0.00001
NM_001244710.2(GFPT1):c.1159T>G (p.Leu387Val)
NM_001244710.2(GFPT1):c.1264T>C (p.Phe422Leu)
NM_001244710.2(GFPT1):c.1309T>C (p.Phe437Leu)	rs766450555
NM_001244710.2(GFPT1):c.137A>G (p.Asn46Ser)
NM_001244710.2(GFPT1):c.151G>A (p.Glu51Lys)
NM_001244710.2(GFPT1):c.37C>T (p.Pro13Ser)
NM_001244710.2(GFPT1):c.487C>T (p.Arg163Trp)
NM_001244710.2(GFPT1):c.532A>G (p.Ile178Val)

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