List of variants in gene SLC13A5 reported as likely pathogenic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)	rs144332569	0.00009
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met)	rs587777577	0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter)	rs773770609	0.00004
NM_177550.5(SLC13A5):c.1022G>A (p.Trp341Ter)	rs150203483	0.00001
NM_177550.5(SLC13A5):c.1280C>T (p.Ser427Leu)	rs548065551	0.00001
NM_177550.5(SLC13A5):c.202C>T (p.Pro68Ser)	rs746055240	0.00001
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met)	rs761917087	0.00001
NM_177550.5(SLC13A5):c.548-2A>G	rs966681982	0.00001
NM_177550.5(SLC13A5):c.103-1G>A	rs1597677742
NM_177550.5(SLC13A5):c.1141del (p.Ser381fs)	rs1555541486
NM_177550.5(SLC13A5):c.1156+1G>A	rs1555541483
NM_177550.5(SLC13A5):c.1156+1_1156+5del
NM_177550.5(SLC13A5):c.1276-1G>A	rs1597657030
NM_177550.5(SLC13A5):c.1379C>A (p.Thr460Asn)	rs2150964787
NM_177550.5(SLC13A5):c.1438-2A>G
NM_177550.5(SLC13A5):c.1451del (p.Gly484fs)	rs1597653264
NM_177550.5(SLC13A5):c.1463T>C (p.Leu488Pro)	rs587777578
NM_177550.5(SLC13A5):c.1475T>C (p.Leu492Pro)	rs1057519449
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs)	rs1211773372
NM_177550.5(SLC13A5):c.231+2T>G	rs730882222
NM_177550.5(SLC13A5):c.232-2A>G	rs1973878360
NM_177550.5(SLC13A5):c.332T>G (p.Leu111Arg)	rs1597676610
NM_177550.5(SLC13A5):c.369-2A>G	rs1973796030
NM_177550.5(SLC13A5):c.425del (p.Thr142fs)	rs2151495220
NM_177550.5(SLC13A5):c.548-1G>A
NM_177550.5(SLC13A5):c.716+5G>A	rs1057518298
NM_177550.5(SLC13A5):c.785T>C (p.Leu262Pro)	rs1973699059
NM_177550.5(SLC13A5):c.839+1G>A	rs1973697345
NM_177550.5(SLC13A5):c.840-2A>G

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