ClinVar Miner

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

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_144508.5(KNL1):c.322+123dup rs11427985 1.00000
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.6416-84C>T rs10444817 0.38742
NM_144508.5(KNL1):c.6595-27C>T rs2412544 0.38723
NM_144508.5(KNL1):c.245T>C (p.Met82Thr) rs79413475 0.03753
NM_144508.5(KNL1):c.1493T>A (p.Ile498Asn) rs59648663 0.01046
NM_144508.5(KNL1):c.3810G>A (p.Ala1270=) rs34758606 0.00949
NM_144508.5(KNL1):c.5151T>C (p.Pro1717=) rs74377704 0.00815
NM_144508.5(KNL1):c.6173-13del rs34904135

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