ClinVar Miner

List of variants studied for Familial renal glucosuria

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Total variants: 83
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HGVS dbSNP
NM_003041.4(SLC5A2):c.*160C>T
NM_003041.4(SLC5A2):c.*33C>G
NM_003041.4(SLC5A2):c.*48G>A
NM_003041.4(SLC5A2):c.*63G>A rs114517938
NM_003041.4(SLC5A2):c.*70C>G
NM_003041.4(SLC5A2):c.1007G>A (p.Arg336His)
NM_003041.4(SLC5A2):c.1008C>T (p.Arg336=)
NM_003041.4(SLC5A2):c.1021+14C>T
NM_003041.4(SLC5A2):c.1129+6G>A
NM_003041.4(SLC5A2):c.1130G>C (p.Gly377Ala) rs534057160
NM_003041.4(SLC5A2):c.1137C>T (p.Arg379=) rs761863294
NM_003041.4(SLC5A2):c.1145T>C (p.Met382Thr) rs141627694
NM_003041.4(SLC5A2):c.1152_1163del (p.Val385_Ala388del) rs770588592
NM_003041.4(SLC5A2):c.1154T>C (p.Val385Ala)
NM_003041.4(SLC5A2):c.1261G>A (p.Glu421Lys)
NM_003041.4(SLC5A2):c.1265T>C (p.Leu422Pro)
NM_003041.4(SLC5A2):c.1269G>T (p.Leu423=) rs537643888
NM_003041.4(SLC5A2):c.127-16C>A rs398122801
NM_003041.4(SLC5A2):c.1274T>A (p.Val425Glu)
NM_003041.4(SLC5A2):c.1275G>A (p.Val425=)
NM_003041.4(SLC5A2):c.1291del (p.Val431fs) rs1555496083
NM_003041.4(SLC5A2):c.1297A>G (p.Ile433Val) rs150546732
NM_003041.4(SLC5A2):c.1307T>C (p.Val436Ala) rs886051961
NM_003041.4(SLC5A2):c.1320G>A (p.Trp440Ter) rs121918621
NM_003041.4(SLC5A2):c.1345G>T (p.Gly449Cys) rs773289713
NM_003041.4(SLC5A2):c.1366A>C (p.Ile456Leu)
NM_003041.4(SLC5A2):c.1388T>C (p.Leu463Pro)
NM_003041.4(SLC5A2):c.1409T>C (p.Val470Ala)
NM_003041.4(SLC5A2):c.1417C>A (p.Leu473Met)
NM_003041.4(SLC5A2):c.1433C>T (p.Pro478Leu)
NM_003041.4(SLC5A2):c.1435C>G (p.Arg479Gly) rs387906682
NM_003041.4(SLC5A2):c.1449+13C>A
NM_003041.4(SLC5A2):c.1449+14G>A rs777309894
NM_003041.4(SLC5A2):c.1450-14T>C rs374122696
NM_003041.4(SLC5A2):c.1450-4G>A rs886051962
NM_003041.4(SLC5A2):c.1451G>A (p.Gly484Asp) rs1309307492
NM_003041.4(SLC5A2):c.1455C>T (p.Ala485=) rs201859484
NM_003041.4(SLC5A2):c.152C>T (p.Thr51Ile)
NM_003041.4(SLC5A2):c.1548G>A (p.Ala516=) rs539749063
NM_003041.4(SLC5A2):c.1594G>A (p.Val532Met) rs760834878
NM_003041.4(SLC5A2):c.1603T>G (p.Phe535Val) rs199521654
NM_003041.4(SLC5A2):c.1626C>G (p.Leu542=) rs75646778
NM_003041.4(SLC5A2):c.1645G>A (p.Ala549Thr)
NM_003041.4(SLC5A2):c.1652T>C (p.Ile551Thr)
NM_003041.4(SLC5A2):c.1665+13G>A
NM_003041.4(SLC5A2):c.1692G>A (p.Arg564=) rs147697689
NM_003041.4(SLC5A2):c.1719G>T (p.Leu573=) rs767926604
NM_003041.4(SLC5A2):c.1773G>T (p.Glu591Asp) rs149525864
NM_003041.4(SLC5A2):c.1791T>C (p.Asn597=)
NM_003041.4(SLC5A2):c.1792+12T>C rs886051963
NM_003041.4(SLC5A2):c.1806G>C (p.Pro602=)
NM_003041.4(SLC5A2):c.1807G>A (p.Ala603Thr)
NM_003041.4(SLC5A2):c.1844G>C (p.Cys615Ser) rs201073991
NM_003041.4(SLC5A2):c.1845T>C (p.Cys615=)
NM_003041.4(SLC5A2):c.1877C>T (p.Pro626Leu) rs535031004
NM_003041.4(SLC5A2):c.1885A>G (p.Thr629Ala) rs61741237
NM_003041.4(SLC5A2):c.1889AGG[2] (p.Glu632del) rs771257793
NM_003041.4(SLC5A2):c.1895A>C (p.Glu632Ala) rs753477563
NM_003041.4(SLC5A2):c.1902G>A (p.Ala634=) rs372404252
NM_003041.4(SLC5A2):c.1926C>T (p.Asp642=) rs557690622
NM_003041.4(SLC5A2):c.1933G>A (p.Glu645Lys) rs760556743
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser) rs61742739
NM_003041.4(SLC5A2):c.1982T>C (p.Met661Thr) rs775638719
NM_003041.4(SLC5A2):c.19G>A (p.Ala7Thr)
NM_003041.4(SLC5A2):c.2012A>T (p.Tyr671Phe)
NM_003041.4(SLC5A2):c.2013T>C (p.Tyr671=)
NM_003041.4(SLC5A2):c.227T>A (p.Ile76Asn) rs762905275
NM_003041.4(SLC5A2):c.265G>A (p.Ala89Thr) rs886037850
NM_003041.4(SLC5A2):c.26C>T (p.Ser9Leu) rs564249983
NM_003041.4(SLC5A2):c.294C>A (p.Phe98Leu) rs398122802
NM_003041.4(SLC5A2):c.294_295insTT (p.Glu99fs) rs770214617
NM_003041.4(SLC5A2):c.371C>T (p.Thr124Met)
NM_003041.4(SLC5A2):c.389G>A (p.Arg130His) rs886051960
NM_003041.4(SLC5A2):c.416G>A (p.Arg139His) rs1378076282
NM_003041.4(SLC5A2):c.451A>C (p.Ile151Leu)
NM_003041.4(SLC5A2):c.469-3A>T rs369221516
NM_003041.4(SLC5A2):c.500del (p.Gln167fs) rs267607067
NM_003041.4(SLC5A2):c.568G>A (p.Val190Met) rs138803748
NM_003041.4(SLC5A2):c.60T>C (p.Ile20=) rs114050461
NM_003041.4(SLC5A2):c.655+6G>C rs779984246
NM_003041.4(SLC5A2):c.704G>A (p.Gly235Glu) rs138795531
NM_003041.4(SLC5A2):c.885+5G>A rs200228142
NM_003041.4(SLC5A2):c.886G>C (p.Val296Leu)

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