List of variants reported as pathogenic for primary Fanconi syndrome by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001482.3(GATM):c.1006A>G (p.Thr336Ala)	rs1889422994
NM_001482.3(GATM):c.1007C>T (p.Thr336Ile)	rs1481334244
NM_001482.3(GATM):c.1022C>T (p.Pro341Leu)	rs1889422661
NM_001482.3(GATM):c.958C>T (p.Pro320Ser)	rs1889443535
NM_001966.4(EHHADH):c.7G>A (p.Glu3Lys)	rs398124646
NM_003052.5(SLC34A1):c.460_480dup (p.Ile154_Val160dup)	rs1554095263

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