List of variants reported as pathogenic for Fanconi renotubular syndrome

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)	rs137853336	0.00006
NM_152416.4(NDUFAF6):c.298-768T>C	rs575462405	0.00004
NM_001482.3(GATM):c.505C>T (p.Arg169Ter)	rs397514708	0.00001
GRCh37/hg19 5q35.3(chr5:176812675-176813587)
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
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp)	rs587777732

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