ClinVar Miner

List of variants in gene KNL1 reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_144508.5(KNL1):c.6212+5G>A rs115900739 0.00501
NM_144508.5(KNL1):c.451A>G (p.Met151Val) rs35146555 0.00416
NM_144508.5(KNL1):c.6034A>G (p.Ile2012Val) rs74970544 0.00405
NM_144508.5(KNL1):c.5799-9G>A rs114041699 0.00385
NM_144508.5(KNL1):c.6131C>T (p.Pro2044Leu) rs116439389 0.00341
NM_144508.5(KNL1):c.5271C>T (p.Cys1757=) rs191249840 0.00173
NM_144508.5(KNL1):c.4170T>A (p.Asp1390Glu) rs141726041 0.00141
NM_144508.5(KNL1):c.3405C>T (p.Ala1135=) rs142853192 0.00055
NM_144508.5(KNL1):c.5433A>T (p.Ile1811=) rs200029926 0.00022
NM_144508.5(KNL1):c.4000C>T (p.Pro1334Ser) rs148070447 0.00021
NM_144508.5(KNL1):c.1768G>T (p.Ala590Ser) rs201334214 0.00006
NM_144508.5(KNL1):c.3573A>G (p.Ile1191Met) rs200222327 0.00006

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