ClinVar Miner

List of variants in gene GFPT1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001244710.2(GFPT1):c.1105+7A>G rs6722492 0.65895
NM_001244710.2(GFPT1):c.716G>A (p.Arg239Gln) rs555854564 0.00014
NM_001244710.2(GFPT1):c.1597+5A>G rs373420002 0.00008
NM_001244710.2(GFPT1):c.1324+3G>A rs367865496 0.00005
NM_001244710.2(GFPT1):c.44C>T (p.Thr15Met) rs751097758 0.00002
NM_001244710.2(GFPT1):c.2055+1G>T rs868258818 0.00001
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001244710.2(GFPT1):c.2056-11del rs201268947
NM_001244710.2(GFPT1):c.211G>T (p.Glu71Ter)
NM_001244710.2(GFPT1):c.50G>A (p.Arg17Gln) rs775399768
NM_001244710.2(GFPT1):c.739+1G>A

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