ClinVar Miner

List of variants in gene CYP1B1 reported as benign for congenital glaucoma

Included ClinVar conditions (13):
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.*695G>T rs10916 0.76280
NM_000104.4(CYP1B1):c.*350C>A rs162562 0.67224
NM_000104.4(CYP1B1):c.*975A>G rs2855658 0.48745
NM_000104.4(CYP1B1):c.142C>G (p.Arg48Gly) rs10012 0.36324
NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser) rs1056827 0.35167
NM_000104.4(CYP1B1):c.-1-12C>T rs2617266 0.28114
NM_000104.4(CYP1B1):c.*2409A>T rs162549 0.18874
NM_000104.4(CYP1B1):c.729G>C (p.Val243=) rs9341249 0.06879
NM_000104.4(CYP1B1):c.*1871C>T rs9341266 0.03671
NM_000104.4(CYP1B1):c.564C>A (p.Gly188=) rs9341247 0.02411
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060 0.00478
NM_000104.4(CYP1B1):c.594C>T (p.Val198=) rs34731639 0.00420
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn) rs9282671 0.00362
NM_000104.4(CYP1B1):c.147C>A (p.Ser49=) rs4987137 0.00191
NM_000104.4(CYP1B1):c.35C>T (p.Pro12Leu) rs61216970 0.00123
NM_000104.4(CYP1B1):c.319C>G (p.Leu107Val) rs56339482 0.00011
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.*210dup rs4646431
NM_000104.4(CYP1B1):c.-338G>T
NM_000104.4(CYP1B1):c.-97dup rs11379588
NM_000104.4(CYP1B1):c.1503G>A (p.Ala501=)
NM_000104.4(CYP1B1):c.958G>T (p.Val320Leu) rs72549382

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