ClinVar Miner

List of variants in gene KNL1 studied for neurodevelopmental disorder

Included ClinVar conditions (779):
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Gene type:
ClinVar version:
Total variants: 137
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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.3810G>A (p.Ala1270=) rs34758606 0.01205
NM_144508.5(KNL1):c.1493T>A (p.Ile498Asn) rs59648663 0.01046
NM_144508.5(KNL1):c.5151T>C (p.Pro1717=) rs74377704 0.00815
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.4619G>A (p.Gly1540Glu) rs183316447 0.00240
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.*28A>G rs142385403 0.00140
NM_144508.5(KNL1):c.4772A>G (p.Asn1591Ser) rs200656662 0.00135
NM_144508.5(KNL1):c.*201A>G rs117802190 0.00123
NM_144508.5(KNL1):c.812C>G (p.Thr271Ser) rs201037775 0.00120
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.75+6A>G rs201311057 0.00084
NM_144508.5(KNL1):c.1970C>T (p.Pro657Leu) rs199767066 0.00083
NM_144508.5(KNL1):c.5631C>T (p.Leu1877=) rs201853975 0.00066
NM_144508.5(KNL1):c.1523T>A (p.Ile508Lys) rs199699274 0.00065
NM_144508.5(KNL1):c.3405C>T (p.Ala1135=) rs142853192 0.00055
NM_144508.5(KNL1):c.2815A>T (p.Met939Leu) rs145740834 0.00045
NM_144508.5(KNL1):c.6416-13T>G rs370035611 0.00041
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.5064G>C (p.Pro1688=) rs369221746 0.00029
NM_144508.5(KNL1):c.6594+10G>A rs200845312 0.00027
NM_144508.5(KNL1):c.5112C>T (p.Asn1704=) rs35625882 0.00026
NM_144508.5(KNL1):c.5433A>T (p.Ile1811=) rs200029926 0.00022
NM_144508.5(KNL1):c.1393A>C (p.Asn465His) rs541346845 0.00021
NM_144508.5(KNL1):c.4000C>T (p.Pro1334Ser) rs148070447 0.00021
NM_144508.5(KNL1):c.4980G>C (p.Lys1660Asn) rs201366681 0.00020
NM_144508.5(KNL1):c.-17-15G>A rs186815033 0.00019
NM_144508.5(KNL1):c.250+4A>G rs201508618 0.00018
NM_144508.5(KNL1):c.1817A>G (p.Lys606Arg) rs371943910 0.00016
NM_144508.5(KNL1):c.5127A>G (p.Gln1709=) rs753049399 0.00016
NM_144508.5(KNL1):c.5289G>A (p.Thr1763=) rs35818636 0.00016
NM_144508.5(KNL1):c.6043A>C (p.Met2015Leu) rs146571920 0.00016
NM_144508.5(KNL1):c.3634G>A (p.Ala1212Thr) rs533933463 0.00014
NM_144508.5(KNL1):c.5974G>T (p.Ala1992Ser) rs200052077 0.00014
NM_144508.5(KNL1):c.6497C>G (p.Pro2166Arg) rs532623099 0.00013
NM_144508.5(KNL1):c.5273A>G (p.Asn1758Ser) rs375582159 0.00010
NM_144508.5(KNL1):c.5607A>C (p.Thr1869=) rs375102589 0.00010
NM_144508.5(KNL1):c.2676T>C (p.Asp892=) rs374301092 0.00009
NM_144508.5(KNL1):c.4954A>G (p.Ile1652Val) rs193134958 0.00007
NM_144508.5(KNL1):c.1768G>T (p.Ala590Ser) rs201334214 0.00006
NM_144508.5(KNL1):c.2315T>C (p.Ile772Thr) rs200553085 0.00006
NM_144508.5(KNL1):c.3573A>G (p.Ile1191Met) rs200222327 0.00006
NM_144508.5(KNL1):c.6425C>T (p.Pro2142Leu) rs202196865 0.00006
NM_144508.5(KNL1):c.6594+14G>C rs374302027 0.00006
NM_144508.5(KNL1):c.21G>A (p.Glu7=) rs199912732 0.00005
NM_144508.5(KNL1):c.143A>G (p.Asn48Ser) rs775359976 0.00004
NM_144508.5(KNL1):c.5853C>A (p.Asn1951Lys) rs527919489 0.00004
NM_144508.5(KNL1):c.6796C>G (p.Pro2266Ala) rs536166099 0.00004
NM_144508.5(KNL1):c.*238T>C rs1418447223 0.00003
NM_144508.5(KNL1):c.1429A>G (p.Ile477Val) rs199772806 0.00003
NM_144508.5(KNL1):c.2347G>A (p.Gly783Ser) rs767378783 0.00003
NM_144508.5(KNL1):c.4393G>T (p.Val1465Leu) rs201195268 0.00003
NM_144508.5(KNL1):c.6213-12T>C rs749158981 0.00003
NM_144508.5(KNL1):c.6334G>A (p.Val2112Ile) rs377578399 0.00003
NM_144508.5(KNL1):c.*460C>T rs540237953 0.00002
NM_144508.5(KNL1):c.1560C>T (p.Leu520=) rs765012826 0.00002
NM_144508.5(KNL1):c.1754A>G (p.Gln585Arg) rs146553005 0.00002
NM_144508.5(KNL1):c.2260A>G (p.Ile754Val) rs777932055 0.00002
NM_144508.5(KNL1):c.2987G>A (p.Ser996Asn) rs761289014 0.00002
NM_144508.5(KNL1):c.375+11A>C rs202023529 0.00002
NM_144508.5(KNL1):c.4550A>T (p.Asn1517Ile) rs886051139 0.00002
NM_144508.5(KNL1):c.4573A>G (p.Asn1525Asp) rs199825623 0.00002
NM_144508.5(KNL1):c.5626C>G (p.Leu1876Val) rs369488649 0.00002
NM_144508.5(KNL1):c.5769T>C (p.Asp1923=) rs200045786 0.00002
NM_144508.5(KNL1):c.1203T>C (p.Thr401=) rs983035581 0.00001
NM_144508.5(KNL1):c.1291T>C (p.Ser431Pro) rs777990077 0.00001
NM_144508.5(KNL1):c.1352A>G (p.Asn451Ser) rs781329861 0.00001
NM_144508.5(KNL1):c.144T>C (p.Asn48=) rs763938698 0.00001
NM_144508.5(KNL1):c.1509A>G (p.Gln503=) rs748514171 0.00001
NM_144508.5(KNL1):c.1521A>G (p.Gln507=) rs979186313 0.00001
NM_144508.5(KNL1):c.1636A>G (p.Arg546Gly) rs771812329 0.00001
NM_144508.5(KNL1):c.2012A>C (p.Asn671Thr) rs201277974 0.00001
NM_144508.5(KNL1):c.2323G>T (p.Gly775Cys) rs754128699 0.00001
NM_144508.5(KNL1):c.2491G>A (p.Glu831Lys) rs1428077119 0.00001
NM_144508.5(KNL1):c.250+3A>G rs768577383 0.00001
NM_144508.5(KNL1):c.2634T>C (p.Tyr878=) rs774999750 0.00001
NM_144508.5(KNL1):c.3139G>A (p.Asp1047Asn) rs1456646458 0.00001
NM_144508.5(KNL1):c.3328T>G (p.Leu1110Val) rs779935052 0.00001
NM_144508.5(KNL1):c.6215A>G (p.Asn2072Ser) rs778618588 0.00001
NM_144508.5(KNL1):c.6439C>T (p.Arg2147Cys) rs769307594 0.00001
NM_144508.5(KNL1):c.744G>A (p.Pro248=) rs565734208 0.00001
NM_144508.5(KNL1):c.949G>A (p.Asp317Asn) rs777453983 0.00001
NM_144508.5(KNL1):c.-100C>G rs1415161457
NM_144508.5(KNL1):c.-13G>T rs747274892
NM_144508.5(KNL1):c.-143G>A rs886051137
NM_144508.5(KNL1):c.1076del (p.Gly359fs) rs2141719739
NM_144508.5(KNL1):c.10G>T (p.Val4Leu) rs202140477
NM_144508.5(KNL1):c.1477G>A (p.Ala493Thr)
NM_144508.5(KNL1):c.1780G>A (p.Ala594Thr)
NM_144508.5(KNL1):c.1789A>G (p.Ser597Gly) rs1250355220
NM_144508.5(KNL1):c.197_197+4del
NM_144508.5(KNL1):c.2014A>G (p.Ile672Val) rs73394756
NM_144508.5(KNL1):c.2044_2047del (p.Lys681_Gln682insTer) rs2141721054
NM_144508.5(KNL1):c.2162C>A (p.Thr721Lys) rs1242537735
NM_144508.5(KNL1):c.220A>T (p.Met74Leu)
NM_144508.5(KNL1):c.2538A>C (p.Lys846Asn) rs1892588636
NM_144508.5(KNL1):c.2963T>A (p.Val988Glu) rs886051138
NM_144508.5(KNL1):c.3200G>A (p.Ser1067Asn) rs1322821302
NM_144508.5(KNL1):c.3490C>A (p.Leu1164Met)
NM_144508.5(KNL1):c.3881C>T (p.Ala1294Val) rs753156438
NM_144508.5(KNL1):c.4483A>C (p.Ser1495Arg) rs781736494
NM_144508.5(KNL1):c.4745_4746delinsC (p.Leu1582fs) rs1555420891
NM_144508.5(KNL1):c.4817A>T (p.His1606Leu) rs886051140
NM_144508.5(KNL1):c.5184dup (p.Ile1729fs) rs863225127
NM_144508.5(KNL1):c.5235G>T (p.Glu1745Asp) rs886051141
NM_144508.5(KNL1):c.5391T>A (p.His1797Gln) rs1892804502
NM_144508.5(KNL1):c.5401G>A (p.Asp1801Asn) rs886051142
NM_144508.5(KNL1):c.5463C>G (p.Cys1821Trp)
NM_144508.5(KNL1):c.5560A>G (p.Ile1854Val) rs1892818549
NM_144508.5(KNL1):c.5890-14A>C rs1893362042
NM_144508.5(KNL1):c.6045G>A (p.Met2015Ile) rs763915472
NM_144508.5(KNL1):c.6173-13del rs34904135
NM_144508.5(KNL1):c.6349G>T (p.Asp2117Tyr) rs758157294
NM_144508.5(KNL1):c.6392C>T (p.Thr2131Ile) rs1893582619
NM_144508.5(KNL1):c.6584A>G (p.Gln2195Arg)
NM_144508.5(KNL1):c.694del (p.Asp232fs) rs797045430

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