ClinVar Miner

List of variants reported as likely pathogenic for glaucoma 3, primary infantile, B

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.578C>T (p.Pro193Leu) rs529769268 0.00001
NM_000104.4(CYP1B1):c.1099dup (p.Asp367fs) rs2125314883
NM_000104.4(CYP1B1):c.1536_1541del (p.Pro513_Lys514del) rs751768343
NM_000428.3(LTBP2):c.2389-2A>G rs1327636983

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