ClinVar Miner

List of variants in gene CYP7B1 reported as benign for Spastic paraplegia

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_004820.5(CYP7B1):c.122+19A>T rs7842714 0.39118
NM_004820.5(CYP7B1):c.56T>C (p.Leu19Pro) rs72554624 0.04177
NC_000008.11:g.64798895G>C rs117576566 0.02967
NM_004820.5(CYP7B1):c.971G>A (p.Arg324His) rs59035258 0.02701
NM_004820.5(CYP7B1):c.1464G>A (p.Leu488=) rs114797034 0.00140
NM_004820.5(CYP7B1):c.94G>T (p.Ala32Ser) rs181854355 0.00056
NM_004820.5(CYP7B1):c.123-10_123-9del rs8192895
NM_004820.5(CYP7B1):c.123-10_123-9dup
NM_004820.5(CYP7B1):c.123-19dup rs8192895
NM_004820.5(CYP7B1):c.123-9del rs8192895
NM_004820.5(CYP7B1):c.260-15dup rs8192896
NM_004820.5(CYP7B1):c.260-5del rs8192896
NM_004820.5(CYP7B1):c.260-6T>C
NM_004820.5(CYP7B1):c.75C>A (p.Ala25=) rs536629832
NM_004820.5(CYP7B1):c.971G>C (p.Arg324Pro)

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