ClinVar Miner

List of variants studied for hereditary folate malabsorption by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_080669.6(SLC46A1):c.623A>T (p.Tyr208Phe) rs201837257 0.00088
NM_080669.6(SLC46A1):c.295T>C (p.Phe99Leu) rs201862124 0.00054
NM_080669.6(SLC46A1):c.*4418C>T rs184621509 0.00034
NM_080669.6(SLC46A1):c.341G>T (p.Arg114Leu) rs369959215 0.00004
NM_080669.6(SLC46A1):c.1258T>C (p.Phe420Leu) rs1337596788 0.00003
NM_080669.6(SLC46A1):c.981_982del (p.Tyr327_Cys328delinsTer) rs1597834560

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