ClinVar Miner

List of variants in gene CYP1B1 reported as uncertain significance for glaucoma 3, primary infantile, B

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.-2G>A rs9341245 0.00309
NM_000104.4(CYP1B1):c.1033C>T (p.Leu345Phe) rs66583685 0.00012
NM_000104.4(CYP1B1):c.592G>A (p.Val198Ile) rs59472972 0.00009
NM_000104.4(CYP1B1):c.859G>A (p.Ala287Thr) rs201544164 0.00008
NM_000104.4(CYP1B1):c.701C>T (p.Thr234Met) rs375391843 0.00007
NM_000104.4(CYP1B1):c.367T>C (p.Phe123Leu) rs769402060 0.00004
NM_000104.4(CYP1B1):c.431A>G (p.Gln144Arg) rs753847648 0.00004
NM_000104.4(CYP1B1):c.947A>T (p.Asp316Val) rs749521942 0.00003
NM_000104.4(CYP1B1):c.503G>A (p.Gly168Asp) rs200724605 0.00001
NM_000104.4(CYP1B1):c.958G>T (p.Val320Leu) rs72549382

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