ClinVar Miner

List of variants in gene PAX6 reported as uncertain significance 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: 5
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HGVS dbSNP
NM_000280.4(PAX6):c.-147_-146dup rs886048205
NM_000280.4(PAX6):c.-59G>T rs886048204
NM_000280.4(PAX6):c.142-8C>T rs886048203
NM_000280.4(PAX6):c.266A>C (p.Gln89Pro) rs1167005463
NM_000280.4(PAX6):c.547G>C (p.Gly183Arg) rs886048202

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