List of variants in gene combination SARM1, 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)
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Total variants: 4

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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.1253del (p.Leu418fs)

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