ClinVar Miner

List of variants in gene KNL1 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 71
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HGVS dbSNP gnomAD frequency
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.245T>C (p.Met82Thr) rs79413475 0.03753
NM_144508.5(KNL1):c.250+556G>A rs8030491 0.03326
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.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.2014A>C (p.Ile672Leu) rs73394756 0.00510
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.1233G>C (p.Met411Ile) rs116093409 0.00245
NM_144508.5(KNL1):c.5271C>T (p.Cys1757=) rs191249840 0.00173
NM_144508.5(KNL1):c.4379T>C (p.Ile1460Thr) rs187007187 0.00162
NM_144508.5(KNL1):c.*7G>C rs565293268 0.00144
NM_144508.5(KNL1):c.*8G>T rs758759341 0.00144
NM_144508.5(KNL1):c.*4_*5insAT rs538937570 0.00143
NM_144508.5(KNL1):c.4170T>A (p.Asp1390Glu) rs141726041 0.00141
NM_144508.5(KNL1):c.165C>T (p.Asn55=) rs201818761 0.00125
NM_144508.5(KNL1):c.2311G>A (p.Val771Ile) rs151288115 0.00107
NM_144508.5(KNL1):c.251-7T>A rs555296963 0.00106
NM_144508.5(KNL1):c.4231G>A (p.Gly1411Arg) rs150569450 0.00103
NM_144508.5(KNL1):c.3999C>T (p.Cys1333=) rs373793762 0.00098
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly) rs142872154 0.00097
NM_144508.5(KNL1):c.5522G>A (p.Arg1841His) rs201880719 0.00088
NM_144508.5(KNL1):c.1970C>T (p.Pro657Leu) rs199767066 0.00083
NM_144508.5(KNL1):c.2268A>G (p.Ser756=) rs202012571 0.00073
NM_144508.5(KNL1):c.251-9T>C rs371294019 0.00066
NM_144508.5(KNL1):c.5631C>T (p.Leu1877=) rs201853975 0.00066
NM_144508.5(KNL1):c.4615G>A (p.Ala1539Thr) rs199770734 0.00064
NM_144508.5(KNL1):c.4340C>T (p.Thr1447Ile) rs200605040 0.00056
NM_144508.5(KNL1):c.2815A>T (p.Met939Leu) rs145740834 0.00045
NM_144508.5(KNL1):c.3749C>T (p.Ala1250Val) rs115132152 0.00034
NM_144508.5(KNL1):c.5974G>T (p.Ala1992Ser) rs200052077 0.00014
NM_144508.5(KNL1):c.89C>T (p.Pro30Leu) rs200234622 0.00014
NM_144508.5(KNL1):c.6284A>G (p.Asn2095Ser) rs371898340 0.00010
NM_144508.5(KNL1):c.910C>T (p.Arg304Trp) rs750955272 0.00010
NM_144508.5(KNL1):c.1768G>T (p.Ala590Ser) rs201334214 0.00006
NM_144508.5(KNL1):c.3474A>G (p.Thr1158=) rs774901560 0.00006
NM_144508.5(KNL1):c.6164C>T (p.Ala2055Val) rs375595681 0.00006
NM_144508.5(KNL1):c.6172+5T>C rs769654305 0.00006
NM_144508.5(KNL1):c.6425C>T (p.Pro2142Leu) rs202196865 0.00006
NM_144508.5(KNL1):c.6796C>G (p.Pro2266Ala) rs536166099 0.00004
NM_144508.5(KNL1):c.6334G>A (p.Val2112Ile) rs377578399 0.00003
NM_144508.5(KNL1):c.905A>C (p.Asn302Thr) rs573778696 0.00003
NM_144508.5(KNL1):c.3633C>T (p.Ile1211=) rs374543266 0.00002
NM_144508.5(KNL1):c.1336A>G (p.Met446Val) rs540961321 0.00001
NM_144508.5(KNL1):c.3517T>G (p.Phe1173Val) rs373188974 0.00001
NM_144508.5(KNL1):c.3706G>T (p.Ala1236Ser) rs775377691 0.00001
NM_144508.5(KNL1):c.4382A>T (p.Asn1461Ile) rs1156447715 0.00001
NM_144508.5(KNL1):c.-2_1del (p.Met1del) rs587780292
NM_144508.5(KNL1):c.221T>C (p.Met74Thr) rs797045428
NM_144508.5(KNL1):c.253A>G (p.Thr85Ala) rs566292216
NM_144508.5(KNL1):c.2784T>C (p.Thr928=) rs587780293
NM_144508.5(KNL1):c.4745_4746delinsC (p.Leu1582fs) rs1555420891
NM_144508.5(KNL1):c.4903C>T (p.Leu1635=) rs1216173133
NM_144508.5(KNL1):c.5885_5888del (p.Lys1962fs) rs797045429
NM_144508.5(KNL1):c.6094+4_6094+8del rs587780294
NM_144508.5(KNL1):c.694del (p.Asp232fs) rs797045430
NM_144508.5(KNL1):c.977C>T (p.Thr326Ile) rs1555420295
NM_170589.4(KNL1):c.*2_*3ins13

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