ClinVar Miner

List of variants in gene CYP1B1 reported as pathogenic for anterior segment dysgenesis 6

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000104.3(CYP1B1):c.171G>A (p.Trp57Ter) rs72549387
NM_000104.3(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700
NM_000104.3(CYP1B1):c.2T>C (p.Met1Thr) rs72549389

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