ClinVar Miner

List of variants reported as likely pathogenic for Congenital defect of folate absorption

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_080669.6(SLC46A1):c.1173_1174del (p.Ser393fs)
NM_080669.6(SLC46A1):c.3G>A (p.Met1Ile)
NM_080669.6(SLC46A1):c.981_982del (p.Tyr327_Cys328delinsTer)	rs1597834560

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