List of variants in gene GFPT1 reported as likely pathogenic

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_001244710.2(GFPT1):c.331C>T (p.Arg111Cys)	rs201322234	0.00030
NM_001244710.2(GFPT1):c.1879G>A (p.Val627Met)	rs372725563	0.00002
NM_001244710.2(GFPT1):c.209A>G (p.Asp70Gly)	rs530830788	0.00002
NM_001244710.2(GFPT1):c.332G>A (p.Arg111His)	rs189717232	0.00001
NM_001244710.2(GFPT1):c.41G>A (p.Arg14Gln)	rs922548333	0.00001
NC_000002.12:g.(?_69363535)_(69363680_?)del
NM_001244710.2(GFPT1):c.*22C>A	rs199678034
NM_001244710.2(GFPT1):c.1105+1G>A	rs1553389102
NM_001244710.2(GFPT1):c.1106-1G>T	rs1670970306
NM_001244710.2(GFPT1):c.1205_1206insGCGTC (p.Gln404fs)	rs1574051096
NM_001244710.2(GFPT1):c.1265_1268del (p.Phe422fs)	rs2104617170
NM_001244710.2(GFPT1):c.1526T>C (p.Met509Thr)
NM_001244710.2(GFPT1):c.211G>T (p.Glu71Ter)
NM_001244710.2(GFPT1):c.398A>G (p.Lys133Arg)
NM_001244710.2(GFPT1):c.408+5G>A	rs1558762013
NM_001244710.2(GFPT1):c.50G>A (p.Arg17Gln)	rs775399768
NM_001244710.2(GFPT1):c.606-8A>G	rs2104648140
NM_001244710.2(GFPT1):c.739+1G>A

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