ClinVar Miner

List of variants reported as uncertain significance for Congenital defect of folate absorption by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_080669.6(SLC46A1):c.512T>A (p.Val171Asp)	rs189103810	0.00106
NM_080669.6(SLC46A1):c.43C>T (p.Pro15Ser)	rs781838735	0.00004

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