ClinVar Miner

List of variants reported as likely benign by Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000940.3(PON3):c.94C>T (p.Arg32Ter) rs147006695 0.00195
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_014845.6(FIG4):c.1940A>G (p.Tyr647Cys) rs150301327 0.00008
NM_000744.7(CHRNA4):c.979G>A (p.Val327Met) rs201841018 0.00004
NM_000744.7(CHRNA4):c.442C>T (p.Arg148Trp) rs121912243 0.00003
NM_000744.7(CHRNA4):c.997C>T (p.Arg333Cys) rs761631713 0.00001
NM_001917.5(DAO):c.46G>A (p.Ala16Thr) rs778735604 0.00001
NM_004082.5(DCTN1):c.2617G>A (p.Ala873Thr) rs764492372 0.00001
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832 0.00001
NC_000011.10:g.56699609T>C rs10896513
NM_001917.5(DAO):c.490G>T (p.Val164Leu) rs1451688633

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