ClinVar Miner

List of variants in gene PAX6 studied for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000280.4(PAX6):c.-107C>T rs111270711
NM_000280.4(PAX6):c.-129+9G>A rs56139994
NM_000280.4(PAX6):c.-147_-146dup rs886048205
NM_000280.4(PAX6):c.-180A>G rs75563367
NM_000280.4(PAX6):c.-316-8C>G rs566281941
NM_000280.4(PAX6):c.-59G>T rs886048204
NM_000280.4(PAX6):c.1137A>C (p.Thr379=) rs143477661
NM_000280.4(PAX6):c.142-8C>T rs886048203
NM_000280.4(PAX6):c.266A>C (p.Gln89Pro) rs1167005463
NM_000280.4(PAX6):c.327G>A (p.Glu109=) rs114384476
NM_000280.4(PAX6):c.547G>C (p.Gly183Arg) rs886048202
NM_000280.4(PAX6):c.711G>A (p.Val237=) rs145329506
NM_000280.4(PAX6):c.766-12C>T rs667773
NM_000280.4(PAX6):c.781C>T (p.Arg261Ter) rs886041222
NM_000280.4(PAX6):c.831G>A (p.Gln277=) rs149053004

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