List of variants in gene SLC46A1 reported as pathogenic for hereditary folate malabsorption

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_080669.6(SLC46A1):c.1004C>A (p.Ala335Asp)	rs281875208	0.00004
NM_080669.6(SLC46A1):c.337C>T (p.Arg113Cys)	rs80338770	0.00001
NM_080669.6(SLC46A1):c.954C>G (p.Ser318Arg)	rs80338772	0.00001
NM_080669.6(SLC46A1):c.1012G>C (p.Gly338Arg)	rs281875209
NM_080669.6(SLC46A1):c.194del (p.Gly65fs)	rs80338769
NM_080669.6(SLC46A1):c.204_205del (p.Asn68fs)	rs397515391
NM_080669.6(SLC46A1):c.337C>A (p.Arg113Ser)	rs80338770
NM_080669.6(SLC46A1):c.487_493del (p.Ala163fs)

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