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

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Total variants: 13

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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.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.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.1253del (p.Leu418fs)
NM_080669.6(SLC46A1):c.194del (p.Gly65fs)	rs80338769
NM_080669.6(SLC46A1):c.204_205del (p.Asn68fs)	rs397515391
NM_080669.6(SLC46A1):c.23dup (p.Glu9fs)	rs397515574
NM_080669.6(SLC46A1):c.337C>A (p.Arg113Ser)	rs80338770
NM_080669.6(SLC46A1):c.487_493del (p.Ala163fs)

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