ClinVar Miner

List of variants in gene SLC7A9 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (891):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_001126335.1(SLC7A9):c.605-3C>A rs749913021
NM_001243036.1(SLC7A9):c.1225-4678_1324del
NM_014270.4(SLC7A9):c.131T>C (p.Ile44Thr) rs121908485
NM_014270.4(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480
NM_014270.4(SLC7A9):c.368C>T (p.Thr123Met) rs79987078
NM_014270.4(SLC7A9):c.508G>A (p.Val170Met) rs121908479
NM_014270.4(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353
NM_014270.4(SLC7A9):c.583G>A (p.Gly195Arg) rs121908482
NM_014270.4(SLC7A9):c.695A>G (p.Tyr232Cys) rs121908487
NM_014270.4(SLC7A9):c.775G>A (p.Gly259Arg) rs121908483
NM_014270.4(SLC7A9):c.782C>T (p.Pro261Leu) rs121908486
NM_014270.4(SLC7A9):c.997C>T (p.Arg333Trp) rs121908484
NM_014270.5(SLC7A9):c.614dup (p.Asn206Glufs) rs745319034
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val)
SLC7A9, 1-BP INS, 520T
SLC7A9, 1-BP INS, 799A
SLC7A9, 2-BP DEL, 596TG
SLC7A9, 789+2T-C

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