ClinVar Miner

List of variants reported as likely benign for Primary Microcephaly, Recessive

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_018249.6(CDK5RAP2):c.2274T>C (p.Asp758=) rs2501727 0.18906
NM_018249.6(CDK5RAP2):c.4041G>A (p.Leu1347=) rs6478475 0.09053
NM_018249.6(CDK5RAP2):c.480A>C (p.Leu160=) rs3750494 0.07110
NM_144508.5(KNL1):c.4339A>G (p.Thr1447Ala) rs16970911 0.06529
NM_144508.5(KNL1):c.-55G>A rs12148454 0.06507
NM_018249.6(CDK5RAP2):c.5418C>T (p.Pro1806=) rs3739822 0.02551
NM_018249.6(CDK5RAP2):c.1093-14G>A rs75029577 0.02140
NM_018249.6(CDK5RAP2):c.4821G>C (p.Arg1607Ser) rs16909747 0.01549
NM_144508.5(KNL1):c.727A>G (p.Ile243Val) rs76371152 0.01510
NM_144508.5(KNL1):c.4931A>G (p.Lys1644Arg) rs76098847 0.01498
NM_018249.6(CDK5RAP2):c.5578T>C (p.Leu1860=) rs77100552 0.00243
NM_018249.6(CDK5RAP2):c.3134G>C (p.Arg1045Thr) rs3780679
NM_018451.5(CENPJ):c.*404CT[1] rs141666267

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