List of variants in gene SLC5A2 reported as pathogenic for Familial renal glucosuria

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_003041.4(SLC5A2):c.500del (p.Gln167fs)	rs267607067	0.00008
NM_003041.4(SLC5A2):c.265G>A (p.Ala89Thr)	rs886037850	0.00001
NM_003041.4(SLC5A2):c.127-16C>A	rs398122801
NM_003041.4(SLC5A2):c.1291del (p.Val431fs)	rs1555496083
NM_003041.4(SLC5A2):c.1320G>A (p.Trp440Ter)	rs121918621
NM_003041.4(SLC5A2):c.1435C>G (p.Arg479Gly)	rs387906682
NM_003041.4(SLC5A2):c.1555_1576del (p.Ala519fs)
NM_003041.4(SLC5A2):c.294C>A (p.Phe98Leu)	rs398122802
NM_003041.4(SLC5A2):c.469-2A>T

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