ClinVar Miner

List of variants in gene SLC5A2 reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (305):
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Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_003041.4(SLC5A2):c.1297A>G (p.Ile433Val) rs150546732 0.00240
NM_003041.4(SLC5A2):c.704G>A (p.Gly235Glu) rs138795531 0.00086
NM_003041.4(SLC5A2):c.1275G>A (p.Val425=) rs183103554 0.00039
NM_003041.4(SLC5A2):c.568G>A (p.Val190Met) rs138803748 0.00039
NM_003041.4(SLC5A2):c.1433C>T (p.Pro478Leu) rs373902181 0.00031
NM_003041.4(SLC5A2):c.1409T>C (p.Val470Ala) rs139661242 0.00025
NM_003041.4(SLC5A2):c.1645G>A (p.Ala549Thr) rs140508520 0.00017
NM_003041.4(SLC5A2):c.1450-14T>C rs374122696 0.00014
NM_003041.4(SLC5A2):c.1145T>C (p.Met382Thr) rs141627694 0.00011
NM_003041.4(SLC5A2):c.469-3A>T rs369221516 0.00008
NM_003041.4(SLC5A2):c.1455C>T (p.Ala485=) rs201859484 0.00007
NM_003041.4(SLC5A2):c.1154T>C (p.Val385Ala) rs371605092 0.00006
NM_003041.4(SLC5A2):c.1008C>T (p.Arg336=) rs768523615 0.00005
NM_003041.4(SLC5A2):c.968C>A (p.Thr323Lys) rs764563027 0.00005
NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val) rs766548165 0.00004
NM_003041.4(SLC5A2):c.1603T>G (p.Phe535Val) rs199521654 0.00003
NM_003041.4(SLC5A2):c.26C>T (p.Ser9Leu) rs564249983 0.00003
NM_003041.4(SLC5A2):c.1388T>C (p.Leu463Pro) rs750441217 0.00002
NM_003041.4(SLC5A2):c.1594G>A (p.Val532Met) rs760834878 0.00002
NM_003041.4(SLC5A2):c.19G>A (p.Ala7Thr) rs769746256 0.00002
NM_003041.4(SLC5A2):c.395G>A (p.Arg132His) rs193920818 0.00002
NM_003041.4(SLC5A2):c.886G>C (p.Val296Leu) rs778273828 0.00002
NM_003041.4(SLC5A2):c.1007G>A (p.Arg336His) rs779993355 0.00001
NM_003041.4(SLC5A2):c.1021+14C>T rs1349979357 0.00001
NM_003041.4(SLC5A2):c.1130G>C (p.Gly377Ala) rs534057160 0.00001
NM_003041.4(SLC5A2):c.1137C>T (p.Arg379=) rs761863294 0.00001
NM_003041.4(SLC5A2):c.1261G>A (p.Glu421Lys) rs907643541 0.00001
NM_003041.4(SLC5A2):c.1449+13C>A rs769589113 0.00001
NM_003041.4(SLC5A2):c.227T>A (p.Ile76Asn) rs762905275 0.00001
NM_003041.4(SLC5A2):c.371C>T (p.Thr124Met) rs771307472 0.00001
NM_003041.4(SLC5A2):c.389G>A (p.Arg130His) rs886051960 0.00001
NM_003041.4(SLC5A2):c.1036G>A (p.Val346Met)
NM_003041.4(SLC5A2):c.1129+6G>A rs2082520576
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.1274T>A (p.Val425Glu) rs2082525420
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.1373C>T (p.Ala458Val)
NM_003041.4(SLC5A2):c.1417C>A (p.Leu473Met) rs1426433916
NM_003041.4(SLC5A2):c.1449+14G>A rs777309894
NM_003041.4(SLC5A2):c.1450-4G>A rs886051962
NM_003041.4(SLC5A2):c.152C>T (p.Thr51Ile) rs2082481220
NM_003041.4(SLC5A2):c.1532G>C (p.Cys511Ser)
NM_003041.4(SLC5A2):c.1616T>G (p.Leu539Arg)
NM_003041.4(SLC5A2):c.1652T>C (p.Ile551Thr) rs772983040
NM_003041.4(SLC5A2):c.197C>T (p.Pro66Leu)
NM_003041.4(SLC5A2):c.226A>G (p.Ile76Val)
NM_003041.4(SLC5A2):c.350A>G (p.Tyr117Cys)
NM_003041.4(SLC5A2):c.416G>A (p.Arg139His) rs1378076282
NM_003041.4(SLC5A2):c.451A>C (p.Ile151Leu) rs146552221
NM_003041.4(SLC5A2):c.655+5G>A
NM_003041.4(SLC5A2):c.655+6G>C rs779984246
NM_003041.4(SLC5A2):c.673G>A (p.Gly225Arg)
NM_003041.4(SLC5A2):c.683G>T (p.Gly228Val)
NM_003041.4(SLC5A2):c.776G>A (p.Arg259Gln)
NM_003041.4(SLC5A2):c.959T>C (p.Leu320Pro)

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