ClinVar Miner

List of variants in gene GFPT1 reported by Preventiongenetics, part of Exact Sciences

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001244710.2(GFPT1):c.1105+7A>G rs6722492 0.65895
NM_001244710.2(GFPT1):c.7+36T>C rs6720415 0.57447
NM_001244710.2(GFPT1):c.147T>C (p.Asp49=) rs2230300 0.01692
NM_001244710.2(GFPT1):c.408+7A>T rs112682152 0.01229
NM_001244710.2(GFPT1):c.675C>T (p.Leu225=) rs78952091 0.00975
NM_001244710.2(GFPT1):c.686-2A>G rs1011196447 0.00002
NM_001244710.2(GFPT1):c.116-12A>G rs540758570
NM_001244710.2(GFPT1):c.1324+13del rs113734896
NM_001244710.2(GFPT1):c.408+30T>C rs67760762

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