ClinVar Miner

List of variants in gene KIF14 reported as uncertain significance for Microcephaly 20, primary, autosomal recessive

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_014875.3(KIF14):c.1184C>T (p.Thr395Met) rs138621008 0.00238
NM_014875.3(KIF14):c.4843G>A (p.Gly1615Ser) rs146186348 0.00026
NM_014875.3(KIF14):c.1009G>A (p.Glu337Lys) rs147387069 0.00011
NM_014875.3(KIF14):c.1147A>G (p.Met383Val) rs371446188 0.00008
NM_014875.3(KIF14):c.1813G>T (p.Ala605Ser) rs370591311 0.00008
NM_014875.3(KIF14):c.1375G>A (p.Gly459Arg) rs1660302910 0.00001
NM_014875.3(KIF14):c.595A>G (p.Thr199Ala) rs765579360 0.00001
NM_014875.3(KIF14):c.1570C>G (p.His524Asp) rs1659904063
NM_014875.3(KIF14):c.1979+2C>T
NM_014875.3(KIF14):c.3127C>T (p.His1043Tyr) rs763872222
NM_014875.3(KIF14):c.3136C>T (p.Arg1046Cys)
NM_014875.3(KIF14):c.378_383dup (p.Thr127_Asp128insGluThr)
NM_014875.3(KIF14):c.4072G>A (p.Gly1358Arg)
NM_014875.3(KIF14):c.4247C>A (p.Ala1416Asp) rs372382009
NM_014875.3(KIF14):c.4353+7T>A

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