ClinVar Miner

List of variants studied for Familial renal glucosuria by OMIM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser) rs61742739 0.00531
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.1320G>A (p.Trp440Ter) rs121918621
NM_003041.4(SLC5A2):c.1435C>G (p.Arg479Gly) rs387906682
NM_003041.4(SLC5A2):c.294C>A (p.Phe98Leu) rs398122802

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