ClinVar Miner

List of variants studied for Congenital defect of folate absorption by GeneReviews

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_080669.6(SLC46A1):c.1082-1G>A rs80338775 0.00003
NM_080669.6(SLC46A1):c.1127G>A (p.Arg376Gln) rs281875211 0.00003
NM_080669.6(SLC46A1):c.1126C>T (p.Arg376Trp) rs80338773 0.00001
NM_080669.6(SLC46A1):c.954C>G (p.Ser318Arg) rs80338772 0.00001
NM_080669.6(SLC46A1):c.1274C>G (p.Pro425Arg) rs80338774
NM_080669.6(SLC46A1):c.194del (p.Gly65fs) rs80338769
NM_080669.6(SLC46A1):c.337C>A (p.Arg113Ser) rs80338770
NM_080669.6(SLC46A1):c.439G>C (p.Gly147Arg) rs80338771

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