ClinVar Miner

List of variants in gene PEX13 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: 8
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HGVS dbSNP
NM_002618.4(PEX13):c.465T>G (p.Tyr155Ter) rs369851185
NM_002618.4(PEX13):c.508C>T (p.Arg170Ter) rs553968959
NM_002618.4(PEX13):c.586C>T (p.Gln196Ter) rs1559035738
NM_002618.4(PEX13):c.702G>A (p.Trp234Ter) rs104893661
NM_002618.4(PEX13):c.937T>G (p.Trp313Gly) rs61752113
NM_002618.4(PEX13):c.977T>C (p.Ile326Thr) rs61752115
PEX13, 14-BP DEL, EXON 2
PEX13, 147-KB DEL

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