ClinVar Miner

List of variants in gene KNL1 studied for Primary Microcephaly, Recessive

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Total variants: 18
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HGVS dbSNP gnomAD frequency
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_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_144508.5(KNL1):c.3775A>G (p.Lys1259Glu) rs17747633 0.30695
NM_144508.5(KNL1):c.4339A>G (p.Thr1447Ala) rs16970911 0.06529
NM_144508.5(KNL1):c.-55G>A rs12148454 0.06507
NM_144508.5(KNL1):c.2369C>G (p.Thr790Ser) rs33931006 0.01841
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_144508.5(KNL1):c.1233G>C (p.Met411Ile) rs116093409 0.00245
NM_144508.5(KNL1):c.165C>T (p.Asn55=) rs201818761 0.00125
NM_144508.5(KNL1):c.251-7T>A rs555296963 0.00106
NM_144508.5(KNL1):c.2949A>G (p.Leu983=) rs201182330 0.00092

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