ClinVar Miner

Variants in gene CYP7B1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_004820.5(CYP7B1):c.1464G>A (p.Leu488=) rs114797034 0.00140
NM_004820.5(CYP7B1):c.522T>C (p.Ser174=) rs371522442 0.00022
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=) rs571177831 0.00020
NM_004820.5(CYP7B1):c.850+5G>C rs202155727 0.00010
NM_004820.5(CYP7B1):c.757A>G (p.Lys253Glu) rs200328073 0.00009
NM_004820.5(CYP7B1):c.645T>C (p.Asp215=) rs535511484 0.00008
NM_004820.5(CYP7B1):c.1036T>C (p.Leu346=) rs535728519 0.00005
NM_004820.5(CYP7B1):c.171A>T (p.Gly57=) rs372135575 0.00005
NM_004820.5(CYP7B1):c.1476G>A (p.Gln492=) rs372800597 0.00004
NM_004820.5(CYP7B1):c.850+18A>T rs374380529 0.00004
NM_004820.5(CYP7B1):c.1323G>A (p.Pro441=) rs201281307 0.00003
NM_004820.5(CYP7B1):c.129C>T (p.Pro43=) rs1471365409 0.00002
NM_004820.5(CYP7B1):c.339A>G (p.Val113=) rs770923196 0.00001
NM_004820.5(CYP7B1):c.999A>G (p.Lys333=) rs746555297 0.00001
NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu) rs537303950
NM_004820.5(CYP7B1):c.924T>G (p.Leu308=) rs754533279
NM_004820.5(CYP7B1):c.957T>C (p.Arg319=) rs886063073
NM_004820.5(CYP7B1):c.963A>G (p.Glu321=) rs1045912447

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