ClinVar Miner

List of variants in gene SLC5A2 studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_003041.3(SLC5A2):c.500delA (p.Gln167Argfs) rs267607067
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.1269G>T (p.Leu423=) rs537643888
NM_003041.4(SLC5A2):c.127-16C>A rs398122801
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.1435C>G (p.Arg479Gly) rs387906682
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.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.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.389G>A (p.Arg130His) rs886051960
NM_003041.4(SLC5A2):c.416G>A (p.Arg139His) rs1378076282
NM_003041.4(SLC5A2):c.469-3A>T rs369221516
NM_003041.4(SLC5A2):c.568G>A (p.Val190Met) rs138803748
NM_003041.4(SLC5A2):c.655+6G>C
NM_003041.4(SLC5A2):c.704G>A (p.Gly235Glu) rs138795531
NM_003041.4(SLC5A2):c.885+5G>A rs200228142

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