List of variants in gene GFPT1 reported as likely pathogenic for not provided

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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_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.41G>A (p.Arg14Gln)	rs922548333	0.00001
NM_001244710.2(GFPT1):c.*22C>A	rs199678034
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.606-8A>G	rs2104648140

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