ClinVar Miner

List of variants in gene SLC3A1 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NC_000002.11:g.(?_44527090)_(44541110_?)dup
NM_000341.4(SLC3A1):c.1069_1084dup (p.Arg362fs) rs1553344107
NM_000341.4(SLC3A1):c.1085G>A (p.Arg362His) rs121912697
NM_000341.4(SLC3A1):c.1354C>T (p.Arg452Trp) rs201502095
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691
NM_000341.4(SLC3A1):c.1597T>A (p.Tyr533Asn) rs387907276
NM_000341.4(SLC3A1):c.542G>A (p.Arg181Gln) rs121912694
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter) rs200483989
SLC3A1, EX5-9DUP

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