ClinVar Miner

List of variants in gene KDM5C reported by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_004187.5(KDM5C):c.2243+11G>T rs1977364 0.81756
NM_004187.5(KDM5C):c.564G>A (p.Lys188=) rs61751437 0.01076
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=) rs61733871 0.00293
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=) rs76525703 0.00287
NM_004187.5(KDM5C):c.2823A>G (p.Ser941=) rs143955805 0.00143
NM_004187.5(KDM5C):c.4637G>A (p.Arg1546Gln) rs139569882 0.00051
NM_004187.5(KDM5C):c.465C>T (p.Ser155=) rs138520224 0.00048
NM_004187.5(KDM5C):c.3990C>G (p.Ala1330=) rs143291826 0.00040
NM_004187.5(KDM5C):c.3381A>G (p.Lys1127=) rs370000816 0.00026
NM_004187.5(KDM5C):c.536G>A (p.Arg179His) rs201805773 0.00019
NM_004187.5(KDM5C):c.4304G>A (p.Arg1435His) rs782413552 0.00007
NM_004187.5(KDM5C):c.25C>T (p.Leu9=) rs782183376 0.00004
NM_004187.5(KDM5C):c.2662C>T (p.Arg888Cys) rs376775932 0.00002
NM_004187.5(KDM5C):c.1440G>C (p.Pro480=) rs143784215
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=) rs35353912
NM_004187.5(KDM5C):c.2517-9_2517-7dup rs398124111
NM_004187.5(KDM5C):c.3126_3128delinsCAGG (p.Asp1043fs) rs797044682
NM_004187.5(KDM5C):c.351+1G>T rs797044706
NM_004187.5(KDM5C):c.410_411dup (p.Ala138Ter) rs1057515581
NM_004187.5(KDM5C):c.4318-15T>G rs797044694
NM_004187.5(KDM5C):c.4338C>T (p.His1446=) rs797044695
NM_004187.5(KDM5C):c.4674A>G (p.Gln1558=) rs398124114
NM_004187.5(KDM5C):c.486T>A (p.Tyr162Ter) rs797044731

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