ClinVar Miner

List of variants in gene CYP7B1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004820.5(CYP7B1):c.94G>T (p.Ala32Ser) rs181854355 0.00056
NM_004820.5(CYP7B1):c.929G>A (p.Arg310Gln) rs201867790 0.00016
NM_004820.5(CYP7B1):c.832G>A (p.Glu278Lys) rs751907012 0.00004
NM_004820.5(CYP7B1):c.440G>A (p.Gly147Asp) rs754730601 0.00001
NM_004820.5(CYP7B1):c.425A>G (p.Tyr142Cys) rs1563364388
NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu) rs537303950
NM_004820.5(CYP7B1):c.761T>C (p.Leu254Ser) rs1563364025
NM_004820.5(CYP7B1):c.924T>G (p.Leu308=) rs754533279

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