ClinVar Miner

List of variants in gene DYNC1H1 reported by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.13349C>T (p.Thr4450Met) rs146087540 0.00013
NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile) rs372740994 0.00005
NM_001376.5(DYNC1H1):c.5197A>G (p.Ile1733Val) rs138287354 0.00003
NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr) rs766837403 0.00001
NM_001376.5(DYNC1H1):c.10478G>T (p.Ser3493Ile) rs2152592151
NM_001376.5(DYNC1H1):c.10755-2A>G rs2152593620
NM_001376.5(DYNC1H1):c.3781T>G (p.Trp1261Gly) rs879253961
NM_001376.5(DYNC1H1):c.5507T>C (p.Phe1836Ser) rs2048192344
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) rs713993043
NM_001376.5(DYNC1H1):c.8234C>A (p.Thr2745Lys) rs2152583773

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