ClinVar Miner

List of variants in gene CHRND reported by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000751.3(CHRND):c.12A>G (p.Pro4=) rs2245601 0.45730
NM_000751.3(CHRND):c.1047+9T>C rs3762528 0.07349
NM_000751.3(CHRND):c.120G>A (p.Lys40=) rs55921262 0.03225
NM_000751.3(CHRND):c.243C>T (p.His81=) rs115841867 0.00919
NM_000751.3(CHRND):c.1371+7G>T rs188395796 0.00350
NM_000751.3(CHRND):c.1400G>A (p.Arg467His) rs148939701 0.00096
NM_000751.3(CHRND):c.408C>T (p.Tyr136=) rs112921420 0.00046
NM_000751.3(CHRND):c.44C>T (p.Ala15Val) rs142531974 0.00036
NM_000751.3(CHRND):c.946G>A (p.Gly316Ser) rs139190636 0.00035
NM_000751.3(CHRND):c.1048-7G>T rs369026633 0.00010
NM_000751.3(CHRND):c.932+5G>A rs797045474

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