ClinVar Miner

List of variants studied for Familial renal glucosuria by Illumina Clinical Services Laboratory,Illumina

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Total variants: 62
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HGVS dbSNP
NM_003041.4(SLC5A2):c.*160C>T rs2082559242
NM_003041.4(SLC5A2):c.*33C>G rs199886583
NM_003041.4(SLC5A2):c.*48G>A rs184367787
NM_003041.4(SLC5A2):c.*63G>A rs114517938
NM_003041.4(SLC5A2):c.*70C>G rs867270650
NM_003041.4(SLC5A2):c.1008C>T (p.Arg336=) rs768523615
NM_003041.4(SLC5A2):c.1021+14C>T rs1349979357
NM_003041.4(SLC5A2):c.1129+6G>A rs2082520576
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.1154T>C (p.Val385Ala) rs371605092
NM_003041.4(SLC5A2):c.1265T>C (p.Leu422Pro) rs1198340932
NM_003041.4(SLC5A2):c.1269G>T (p.Leu423=) rs537643888
NM_003041.4(SLC5A2):c.1275G>A (p.Val425=) rs183103554
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.1366A>C (p.Ile456Leu) rs2082529261
NM_003041.4(SLC5A2):c.1409T>C (p.Val470Ala) rs139661242
NM_003041.4(SLC5A2):c.1417C>A (p.Leu473Met) rs1426433916
NM_003041.4(SLC5A2):c.1433C>T (p.Pro478Leu) rs373902181
NM_003041.4(SLC5A2):c.1449+13C>A rs769589113
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.1455C>T (p.Ala485=) rs201859484
NM_003041.4(SLC5A2):c.152C>T (p.Thr51Ile) rs2082481220
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) rs140508520
NM_003041.4(SLC5A2):c.1665+13G>A rs185753774
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=) rs143874850
NM_003041.4(SLC5A2):c.1792+12T>C rs886051963
NM_003041.4(SLC5A2):c.1806G>C (p.Pro602=) rs368649902
NM_003041.4(SLC5A2):c.1807G>A (p.Ala603Thr) rs1188721313
NM_003041.4(SLC5A2):c.1844G>C (p.Cys615Ser) rs201073991
NM_003041.4(SLC5A2):c.1845T>C (p.Cys615=) rs755803144
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) rs769746256
NM_003041.4(SLC5A2):c.2012A>T (p.Tyr671Phe) rs141376808
NM_003041.4(SLC5A2):c.2013T>C (p.Tyr671=) rs2082556858
NM_003041.4(SLC5A2):c.26C>T (p.Ser9Leu) rs564249983
NM_003041.4(SLC5A2):c.389G>A (p.Arg130His) rs886051960
NM_003041.4(SLC5A2):c.469-3A>T rs369221516
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.704G>A (p.Gly235Glu) rs138795531
NM_003041.4(SLC5A2):c.885+5G>A rs200228142
NM_003041.4(SLC5A2):c.886G>C (p.Val296Leu) rs778273828

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