ClinVar Miner

List of variants in gene KNL1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_144508.5(KNL1):c.6034A>G (p.Ile2012Val) rs74970544 0.00405
NM_144508.5(KNL1):c.1299T>C (p.Cys433=) rs35235972 0.00349
NM_144508.5(KNL1):c.1129A>G (p.Ile377Val) rs144726295 0.00317
NM_144508.5(KNL1):c.165C>T (p.Asn55=) rs201818761 0.00125
NM_144508.5(KNL1):c.3999C>T (p.Cys1333=) rs373793762 0.00098
NM_144508.5(KNL1):c.2949A>G (p.Leu983=) rs201182330 0.00092
NM_144508.5(KNL1):c.5522G>A (p.Arg1841His) rs201880719 0.00088
NM_144508.5(KNL1):c.75+6A>G rs201311057 0.00084
NM_144508.5(KNL1):c.5631C>T (p.Leu1877=) rs201853975 0.00066
NM_144508.5(KNL1):c.5538A>G (p.Glu1846=) rs180678267 0.00040
NM_144508.5(KNL1):c.1214A>G (p.Asp405Gly) rs113313996 0.00034
NM_144508.5(KNL1):c.3003A>G (p.Gly1001=) rs748749791 0.00031
NM_144508.5(KNL1):c.5064G>C (p.Pro1688=) rs369221746 0.00029
NM_144508.5(KNL1):c.1817A>G (p.Lys606Arg) rs371943910 0.00016
NM_144508.5(KNL1):c.5607A>C (p.Thr1869=) rs375102589 0.00010
NM_144508.5(KNL1):c.1794C>T (p.Thr598=) rs187414039 0.00009
NM_144508.5(KNL1):c.1768G>T (p.Ala590Ser) rs201334214 0.00006
NM_144508.5(KNL1):c.3573A>G (p.Ile1191Met) rs200222327 0.00006
NM_144508.5(KNL1):c.250+2T>C rs200451358 0.00003
NM_144508.5(KNL1):c.744G>A (p.Pro248=) rs565734208 0.00001
NM_144508.5(KNL1):c.1491A>G (p.Gln497=)
NM_144508.5(KNL1):c.2601C>T (p.Asp867=)
NM_144508.5(KNL1):c.2718A>G (p.Leu906=)
NM_144508.5(KNL1):c.3060A>G (p.Glu1020=)
NM_144508.5(KNL1):c.3388A>G (p.Arg1130Gly)
NM_144508.5(KNL1):c.4018G>T (p.Ala1340Ser)
NM_144508.5(KNL1):c.4059T>C (p.Ser1353=)
NM_144508.5(KNL1):c.5508C>T (p.Asp1836=)
NM_144508.5(KNL1):c.6738C>G (p.Ser2246=) rs373101029
NM_144508.5(KNL1):c.693T>C (p.Pro231=)
NM_144508.5(KNL1):c.743C>T (p.Pro248Leu)
NM_144508.5(KNL1):c.840G>T (p.Gly280=)

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