ClinVar Miner

List of variants reported as likely pathogenic for congenital glaucoma by Baylor Genetics

Included ClinVar conditions (13):
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ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.1102C>T (p.Arg368Cys) rs72480442 0.00021
NM_000104.4(CYP1B1):c.1198C>T (p.Pro400Ser) rs768047511 0.00002
NM_000104.4(CYP1B1):c.578C>T (p.Pro193Leu) rs529769268 0.00001
NM_000104.4(CYP1B1):c.985G>A (p.Gly329Ser) rs777678299 0.00001
NM_000104.4(CYP1B1):c.1027CTC[2] (p.Leu345del)
NM_000104.4(CYP1B1):c.1075G>T (p.Glu359Ter)
NM_000104.4(CYP1B1):c.1111dup (p.Cys371fs)
NM_000104.4(CYP1B1):c.1140dup (p.Val381fs)
NM_000104.4(CYP1B1):c.1153C>T (p.Leu385Phe)
NM_000104.4(CYP1B1):c.1409G>A (p.Cys470Tyr) rs104894979
NM_000104.4(CYP1B1):c.158del (p.Gly53fs)
NM_000104.4(CYP1B1):c.170G>A (p.Trp57Ter)
NM_000104.4(CYP1B1):c.256C>T (p.Gln86Ter)
NM_000104.4(CYP1B1):c.277_306delinsGG (p.Pro93fs)
NM_000104.4(CYP1B1):c.346_363del (p.Asp116_Ala121del)
NM_000104.4(CYP1B1):c.349C>T (p.Arg117Trp) rs944452644
NM_000104.4(CYP1B1):c.490C>T (p.Gln164Ter)
NM_000104.4(CYP1B1):c.575A>T (p.Asp192Val)
NM_000104.4(CYP1B1):c.58C>T (p.Gln20Ter)
NM_000104.4(CYP1B1):c.783C>A (p.Phe261Leu) rs1558603396
NM_000104.4(CYP1B1):c.794dup (p.Asn265fs)
NM_000104.4(CYP1B1):c.872A>G (p.Asp291Gly)
NM_000104.4(CYP1B1):c.994C>T (p.Gln332Ter)
NM_000459.5(TEK):c.434del (p.Lys145fs)

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