ClinVar Miner

List of variants studied for Koolen de Vries syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 133
Download table as spreadsheet
HGVS dbSNP
NC_000017.11:g.(?_46031456)_(46050724_?)dup
NC_000017.11:g.(?_46031456)_(46082562_?)del
NM_001193466.1(KANSL1):c.1046delA (p.Lys349Argfs)
NM_001193466.1(KANSL1):c.1075A>C (p.Ser359Arg) rs1309097254
NM_001193466.1(KANSL1):c.1106A>G (p.Asn369Ser) rs139564524
NM_001193466.1(KANSL1):c.1116A>G (p.Lys372=) rs62639965
NM_001193466.1(KANSL1):c.1124C>T (p.Ser375Leu) rs142696045
NM_001193466.1(KANSL1):c.1157G>T (p.Ser386Ile) rs143589497
NM_001193466.1(KANSL1):c.116A>C (p.Asn39Thr) rs1060502199
NM_001193466.1(KANSL1):c.116A>G (p.Asn39Ser) rs1060502199
NM_001193466.1(KANSL1):c.1185A>G (p.Glu395=) rs199820469
NM_001193466.1(KANSL1):c.1187A>T (p.Gln396Leu) rs149302199
NM_001193466.1(KANSL1):c.1189G>A (p.Ala397Thr) rs138565467
NM_001193466.1(KANSL1):c.122A>G (p.Asn41Ser) rs142587760
NM_001193466.1(KANSL1):c.1230G>A (p.Glu410=) rs777308407
NM_001193466.1(KANSL1):c.1265A>T (p.Asp422Val) rs191058987
NM_001193466.1(KANSL1):c.1269C>T (p.Pro423=) rs750165871
NM_001193466.1(KANSL1):c.1277G>C (p.Arg426Pro) rs764291274
NM_001193466.1(KANSL1):c.1285C>A (p.Pro429Thr) rs142062936
NM_001193466.1(KANSL1):c.12G>A (p.Met4Ile) rs146472353
NM_001193466.1(KANSL1):c.1318G>A (p.Ala440Thr) rs1240185267
NM_001193466.1(KANSL1):c.1402G>C (p.Asp468His) rs745576981
NM_001193466.1(KANSL1):c.1423G>A (p.Ala475Thr) rs547462953
NM_001193466.1(KANSL1):c.1568G>C (p.Gly523Ala)
NM_001193466.1(KANSL1):c.1574C>G (p.Pro525Arg) rs144838667
NM_001193466.1(KANSL1):c.1590T>A (p.Ile530=) rs151329554
NM_001193466.1(KANSL1):c.1599A>G (p.Ser533=) rs1555746340
NM_001193466.1(KANSL1):c.1605T>C (p.Ser535=) rs200561483
NM_001193466.1(KANSL1):c.1616G>A (p.Cys539Tyr) rs776741181
NM_001193466.1(KANSL1):c.1625T>A (p.Leu542His) rs796052593
NM_001193466.1(KANSL1):c.164C>T (p.Ala55Val) rs1213319847
NM_001193466.1(KANSL1):c.1652C>T (p.Thr551Ile) rs778178483
NM_001193466.1(KANSL1):c.1653-10C>G rs199642265
NM_001193466.1(KANSL1):c.1673A>T (p.Asp558Val) rs551923672
NM_001193466.1(KANSL1):c.1689C>T (p.Asp563=) rs113557856
NM_001193466.1(KANSL1):c.1714C>T (p.His572Tyr) rs759587635
NM_001193466.1(KANSL1):c.1738G>A (p.Val580Ile) rs117412152
NM_001193466.1(KANSL1):c.1774C>T (p.Arg592Trp) rs774841964
NM_001193466.1(KANSL1):c.1781G>C (p.Arg594Pro) rs1057520691
NM_001193466.1(KANSL1):c.181C>A (p.Leu61Ile)
NM_001193466.1(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439
NM_001193466.1(KANSL1):c.1831G>A (p.Val611Ile) rs202150313
NM_001193466.1(KANSL1):c.1848+4G>A
NM_001193466.1(KANSL1):c.1855C>T (p.Arg619Trp) rs141298741
NM_001193466.1(KANSL1):c.1857G>T (p.Arg619=) rs191986791
NM_001193466.1(KANSL1):c.1870C>T (p.Arg624Cys)
NM_001193466.1(KANSL1):c.1900G>A (p.Ala634Thr) rs145938212
NM_001193466.1(KANSL1):c.1938C>T (p.Pro646=) rs371047711
NM_001193466.1(KANSL1):c.1949A>G (p.Tyr650Cys)
NM_001193466.1(KANSL1):c.1989T>C (p.Ser663=) rs368175458
NM_001193466.1(KANSL1):c.19G>A (p.Ala7Thr) rs768152581
NM_001193466.1(KANSL1):c.2033G>A (p.Ser678Asn) rs1555734253
NM_001193466.1(KANSL1):c.2106G>C (p.Lys702Asn) rs371108710
NM_001193466.1(KANSL1):c.2109A>G (p.Leu703=) rs34101027
NM_001193466.1(KANSL1):c.2109A>T (p.Leu703Phe)
NM_001193466.1(KANSL1):c.2132dup (p.Met711Ilefs) rs1555734136
NM_001193466.1(KANSL1):c.2135C>T (p.Pro712Leu) rs549189483
NM_001193466.1(KANSL1):c.2159G>A (p.Arg720His) rs148825937
NM_001193466.1(KANSL1):c.2194A>G (p.Thr732Ala) rs1036089094
NM_001193466.1(KANSL1):c.2230G>C (p.Asp744His) rs200103894
NM_001193466.1(KANSL1):c.2294C>T (p.Ala765Val) rs151099014
NM_001193466.1(KANSL1):c.2298A>G (p.Pro766=) rs367624499
NM_001193466.1(KANSL1):c.2322A>G (p.Pro774=) rs765777662
NM_001193466.1(KANSL1):c.2331C>T (p.Pro777=) rs139663254
NM_001193466.1(KANSL1):c.2392+3A>T
NM_001193466.1(KANSL1):c.2414T>C (p.Met805Thr) rs201526313
NM_001193466.1(KANSL1):c.2441C>G (p.Thr814Ser) rs757031050
NM_001193466.1(KANSL1):c.2464T>G (p.Leu822Val) rs754877424
NM_001193466.1(KANSL1):c.2481C>T (p.Ser827=) rs143653891
NM_001193466.1(KANSL1):c.2502A>G (p.Ala834=) rs749802464
NM_001193466.1(KANSL1):c.2503C>T (p.Pro835Ser) rs1555733519
NM_001193466.1(KANSL1):c.2506G>A (p.Ala836Thr) rs935626079
NM_001193466.1(KANSL1):c.2541G>A (p.Ser847=) rs200079722
NM_001193466.1(KANSL1):c.2628C>T (p.Arg876=) rs149756887
NM_001193466.1(KANSL1):c.2640G>A (p.Leu880=) rs773932947
NM_001193466.1(KANSL1):c.2698G>A (p.Gly900Arg) rs74867664
NM_001193466.1(KANSL1):c.2713_2715delGAG (p.Glu905del) rs551968687
NM_001193466.1(KANSL1):c.2718T>G (p.Asn906Lys) rs139615350
NM_001193466.1(KANSL1):c.2725-7A>G rs186818985
NM_001193466.1(KANSL1):c.2838-6G>T rs1555730956
NM_001193466.1(KANSL1):c.286T>C (p.Leu96=) rs140268765
NM_001193466.1(KANSL1):c.2893T>C (p.Ser965Pro)
NM_001193466.1(KANSL1):c.2897C>T (p.Thr966Ile) rs763252158
NM_001193466.1(KANSL1):c.2913C>A (p.Ser971=) rs781514778
NM_001193466.1(KANSL1):c.2949C>T (p.Tyr983=) rs146848167
NM_001193466.1(KANSL1):c.296A>G (p.Gln99Arg) rs754727332
NM_001193466.1(KANSL1):c.297A>G (p.Gln99=) rs34801822
NM_001193466.1(KANSL1):c.2984C>T (p.Pro995Leu) rs761819132
NM_001193466.1(KANSL1):c.3038T>C (p.Leu1013Ser) rs138490347
NM_001193466.1(KANSL1):c.3053C>T (p.Thr1018Ile) rs145863194
NM_001193466.1(KANSL1):c.3056G>A (p.Arg1019His) rs781056926
NM_001193466.1(KANSL1):c.3091-3C>T rs374360315
NM_001193466.1(KANSL1):c.3116C>T (p.Thr1039Ile) rs1444239074
NM_001193466.1(KANSL1):c.316A>G (p.Thr106Ala) rs371450753
NM_001193466.1(KANSL1):c.3170A>G (p.Gln1057Arg) rs201083879
NM_001193466.1(KANSL1):c.3266A>G (p.Lys1089Arg)
NM_001193466.1(KANSL1):c.3272G>A (p.Arg1091Gln) rs752029022
NM_001193466.1(KANSL1):c.3279G>T (p.Leu1093=) rs1404523701
NM_001193466.1(KANSL1):c.327A>G (p.Lys109=) rs749575109
NM_001193466.1(KANSL1):c.388G>A (p.Val130Ile)
NM_001193466.1(KANSL1):c.392T>G (p.Leu131Trp)
NM_001193466.1(KANSL1):c.498A>C (p.Thr166=) rs141491325
NM_001193466.1(KANSL1):c.500A>G (p.His167Arg) rs779594202
NM_001193466.1(KANSL1):c.525C>T (p.Ser175=) rs148321376
NM_001193466.1(KANSL1):c.530A>G (p.Asn177Ser) rs765213873
NM_001193466.1(KANSL1):c.531T>C (p.Asn177=) rs759846708
NM_001193466.1(KANSL1):c.53T>C (p.Ile18Thr) rs1060502198
NM_001193466.1(KANSL1):c.541C>T (p.Arg181Trp) rs375225315
NM_001193466.1(KANSL1):c.542G>A (p.Arg181Gln) rs771481251
NM_001193466.1(KANSL1):c.551C>A (p.Thr184Asn) rs1366986871
NM_001193466.1(KANSL1):c.571G>T (p.Gly191Cys) rs149566146
NM_001193466.1(KANSL1):c.607G>C (p.Gly203Arg) rs138175526
NM_001193466.1(KANSL1):c.620A>G (p.Asn207Ser) rs144882998
NM_001193466.1(KANSL1):c.635A>G (p.His212Arg) rs141110759
NM_001193466.1(KANSL1):c.641G>A (p.Ser214Asn) rs746645554
NM_001193466.1(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
NM_001193466.1(KANSL1):c.688A>G (p.Asn230Asp) rs34756740
NM_001193466.1(KANSL1):c.701T>C (p.Val234Ala) rs199948200
NM_001193466.1(KANSL1):c.719C>T (p.Pro240Leu) rs767565501
NM_001193466.1(KANSL1):c.727C>A (p.Gln243Lys) rs142096969
NM_001193466.1(KANSL1):c.767C>T (p.Ser256Phe) rs537773238
NM_001193466.1(KANSL1):c.773T>C (p.Leu258Ser) rs145714368
NM_001193466.1(KANSL1):c.783C>G (p.Val261=) rs1555575518
NM_001193466.1(KANSL1):c.800A>G (p.Lys267Arg) rs140181991
NM_001193466.1(KANSL1):c.802T>C (p.Ser268Pro) rs767021119
NM_001193466.1(KANSL1):c.805C>T (p.Pro269Ser) rs200903841
NM_001193466.1(KANSL1):c.808_809delCT (p.Leu270Valfs) rs551541795
NM_001193466.1(KANSL1):c.823T>C (p.Phe275Leu)
NM_001193466.1(KANSL1):c.836A>T (p.Asp279Val)
NM_001193466.1(KANSL1):c.849G>A (p.Arg283=) rs754362361
NM_001193466.1(KANSL1):c.907A>G (p.Lys303Glu)
NM_001193466.1(KANSL1):c.949A>G (p.Ile317Val) rs139843442
NM_001193466.1(KANSL1):c.963G>A (p.Leu321=) rs772111208

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.