ClinVar Miner

List of variants reported as uncertain significance by CMT Laboratory, Bogazici University

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.454A>G (p.Met152Val) rs146186857 0.00009
NM_014855.3(AP5Z1):c.1568G>A (p.Arg523His) rs370116509 0.00004
NM_000144.5(FXN):c.493C>T (p.Arg165Cys) rs138034837
NM_000530.8(MPZ):c.362A>G (p.Asp121Gly) rs1571818953
NM_018243.4(SEPTIN11):c.265dup (p.Glu89fs) rs2109948029
NM_030962.4(SBF2):c.2549T>C (p.Met850Thr) rs2133990100

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