ClinVar Miner

List of variants studied for Microcephaly 20, primary, autosomal recessive

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_014875.3(KIF14):c.3096A>G (p.Glu1032=) rs6665951 0.79936
NM_014875.3(KIF14):c.4020G>A (p.Glu1340=) rs7543730 0.53314
NM_014875.3(KIF14):c.4897C>G (p.Pro1633Ala) rs12120084 0.28388
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.103C>T (p.Arg35Ter) rs774318019 0.00001
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.14G>T (p.Ser5Ile) rs1256629719
NM_014875.3(KIF14):c.1570C>G (p.His524Asp) rs1659904063
NM_014875.3(KIF14):c.1979+2C>T
NM_014875.3(KIF14):c.2354_2355del (p.Lys785fs)
NM_014875.3(KIF14):c.246del (p.Asn83fs) rs1553264036
NM_014875.3(KIF14):c.2480_2482del (p.Val827del) rs1553259539
NM_014875.3(KIF14):c.2545C>G (p.His849Asp) rs1553259528
NM_014875.3(KIF14):c.263T>A (p.Leu88Ter) rs1553264033
NM_014875.3(KIF14):c.2813+2dup
NM_014875.3(KIF14):c.3127C>T (p.His1043Tyr) rs763872222
NM_014875.3(KIF14):c.3136C>T (p.Arg1046Cys)
NM_014875.3(KIF14):c.3662G>T (p.Gly1221Val) rs981349334
NM_014875.3(KIF14):c.378_383dup (p.Thr127_Asp128insGluThr)
NM_014875.3(KIF14):c.4071G>A (p.Gln1357=) rs1553254322
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
NM_014875.3(KIF14):c.4432del (p.Ser1478fs) rs1553253022
NM_014875.3(KIF14):c.4475del (p.Asp1492fs)

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