ClinVar Miner

List of variants reported as benign for Primary Microcephaly, Recessive by Illumina Laboratory Services, Illumina

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_018249.6(CDK5RAP2):c.-3G>T rs932975 0.97921
NM_018249.6(CDK5RAP2):c.-19T>C rs932974 0.96160
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln) rs4836822 0.84114
NM_144508.5(KNL1):c.2728A>G (p.Arg910Gly) rs8040502 0.83792
NM_144508.5(KNL1):c.259A>G (p.Thr87Ala) rs12911738 0.83758
NM_144508.5(KNL1):c.1378G>T (p.Ala460Ser) rs2412541 0.79293
NM_144508.5(KNL1):c.128G>C (p.Arg43Thr) rs7177192 0.79283
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu) rs4837768 0.70962
NM_024596.4(MCPH1):c.-59G>C rs2305023 0.63721
NM_144508.5(KNL1):c.3432T>C (p.Asn1144=) rs11070285 0.39065
NM_144508.5(KNL1):c.1715T>C (p.Met572Thr) rs11858113 0.39038
NM_144508.5(KNL1):c.2583T>G (p.Thr861=) rs8041534 0.38951
NM_144508.5(KNL1):c.2310C>T (p.Val770=) rs11855334 0.38914
NM_018451.5(CENPJ):c.*683dup rs397718122 0.33944
NM_144508.5(KNL1):c.3775A>G (p.Lys1259Glu) rs17747633 0.30695
NM_001048166.1(STIL):c.*766_*767del rs75930208
NM_018451.5(CENPJ):c.*302del rs138938177
NM_018451.5(CENPJ):c.*305AAG[1] rs796638364
NM_018451.5(CENPJ):c.2992-18_2992-16del rs375905817
NM_018451.5(CENPJ):c.3704-14_3704-12del rs34991318

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