ClinVar Miner

List of variants in gene KANSL1 reported as benign for Koolen-de Vries syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 78
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.1011C>G (p.Ser337=) rs2240758 0.16502
NM_015443.4(KANSL1):c.696C>T (p.Ser232=) rs1881194 0.14580
NM_015443.4(KANSL1):c.2152T>C (p.Ser718Pro) rs34043286 0.14472
NM_015443.4(KANSL1):c.2580T>C (p.Phe860=) rs17574604 0.14470
NM_015443.4(KANSL1):c.741A>G (p.Arg247=) rs1881193 0.12760
NM_015443.4(KANSL1):c.662C>T (p.Thr221Ile) rs17662853 0.11857
NM_015443.4(KANSL1):c.311A>C (p.Lys104Thr) rs17585974 0.11620
NM_015443.4(KANSL1):c.414T>G (p.Leu138=) rs17662889 0.11611
NM_015443.4(KANSL1):c.673A>G (p.Asn225Asp) rs35643216 0.11593
NM_015443.4(KANSL1):c.2136G>A (p.Pro712=) rs2277613 0.04041
NM_015443.4(KANSL1):c.2109A>G (p.Leu703=) rs34101027 0.00967
NM_015443.4(KANSL1):c.1289+18A>G rs150225895 0.00275
NM_015443.4(KANSL1):c.3091-18C>G rs186216018 0.00191
NM_015443.4(KANSL1):c.1653-10C>G rs199642265 0.00162
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg) rs138175526 0.00156
NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439 0.00146
NM_015443.4(KANSL1):c.1116A>G (p.Lys372=) rs62639965 0.00140
NM_015443.4(KANSL1):c.297A>G (p.Gln99=) rs34801822 0.00137
NM_015443.4(KANSL1):c.2949C>T (p.Tyr983=) rs146848167 0.00091
NM_015443.4(KANSL1):c.1738G>A (p.Val580Ile) rs117412152 0.00087
NM_015443.4(KANSL1):c.2628C>T (p.Arg876=) rs149756887 0.00087
NM_015443.4(KANSL1):c.800A>G (p.Lys267Arg) rs140181991 0.00080
NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser) rs145714368 0.00067
NM_015443.4(KANSL1):c.1938C>T (p.Pro646=) rs371047711 0.00051
NM_015443.4(KANSL1):c.2481C>T (p.Ser827=) rs143653891 0.00044
NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys) rs149566146 0.00041
NM_015443.4(KANSL1):c.635A>G (p.His212Arg) rs141110759 0.00038
NM_015443.4(KANSL1):c.2294C>T (p.Ala765Val) rs151099014 0.00036
NM_015443.4(KANSL1):c.1653-11C>T rs201471275 0.00035
NM_015443.4(KANSL1):c.2159G>A (p.Arg720His) rs148825937 0.00032
NM_015443.4(KANSL1):c.2698G>A (p.Gly900Arg) rs74867664 0.00032
NM_015443.4(KANSL1):c.2725-7A>G rs186818985 0.00024
NM_015443.4(KANSL1):c.1124C>T (p.Ser375Leu) rs142696045 0.00022
NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser) rs144882998 0.00019
NM_015443.4(KANSL1):c.2110T>C (p.Ser704Pro) rs202231419 0.00015
NM_015443.4(KANSL1):c.3146A>G (p.Glu1049Gly) rs771796347 0.00010
NM_015443.4(KANSL1):c.949A>G (p.Ile317Val) rs139843442 0.00010
NM_015443.4(KANSL1):c.1000A>G (p.Asn334Asp) rs112150341 0.00006
NM_015443.4(KANSL1):c.1831G>A (p.Val611Ile) rs202150313 0.00006
NM_015443.4(KANSL1):c.296A>G (p.Gln99Arg) rs754727332 0.00006
NM_015443.4(KANSL1):c.3053C>T (p.Thr1018Ile) rs145863194 0.00006
NM_015443.4(KANSL1):c.3306G>A (p.Pro1102=) rs143746890 0.00006
NM_015443.4(KANSL1):c.2414T>C (p.Met805Thr) rs201526313 0.00004
NM_015443.4(KANSL1):c.779G>T (p.Gly260Val) rs758752787 0.00004
NM_015443.4(KANSL1):c.1848+4G>A rs766458949 0.00003
NM_015443.4(KANSL1):c.1855C>T (p.Arg619Trp) rs141298741 0.00003
NM_015443.4(KANSL1):c.1900G>A (p.Ala634Thr) rs145938212 0.00003
NM_015443.4(KANSL1):c.2194A>G (p.Thr732Ala) rs1036089094 0.00003
NM_015443.4(KANSL1):c.2541G>A (p.Ser847=) rs200079722 0.00003
NM_015443.4(KANSL1):c.2755G>A (p.Ala919Thr) rs776547113 0.00003
NM_015443.4(KANSL1):c.477G>T (p.Lys159Asn) rs188294801 0.00003
NM_015443.4(KANSL1):c.706T>C (p.Ser236Pro) rs747832991 0.00003
NM_015443.4(KANSL1):c.719C>T (p.Pro240Leu) rs767565501 0.00003
NM_015443.4(KANSL1):c.1106A>G (p.Asn369Ser) rs139564524 0.00002
NM_015443.4(KANSL1):c.1255A>G (p.Thr419Ala) rs778528850 0.00001
NM_015443.4(KANSL1):c.2225G>A (p.Arg742Gln) rs752047149 0.00001
NM_015443.4(KANSL1):c.2743G>A (p.Ala915Thr) rs756685224 0.00001
NM_015443.4(KANSL1):c.3016G>T (p.Ala1006Ser) rs1286813277 0.00001
NM_015443.4(KANSL1):c.3236C>T (p.Ala1079Val) rs370112084 0.00001
NM_015443.4(KANSL1):c.1318G>A (p.Ala440Thr) rs1240185267
NM_015443.4(KANSL1):c.1423G>A (p.Ala475Thr) rs547462953
NM_015443.4(KANSL1):c.1491A>G (p.Pro497=) rs17576165
NM_015443.4(KANSL1):c.1543G>C (p.Val515Leu) rs2078430687
NM_015443.4(KANSL1):c.1574= (p.Pro525=)
NM_015443.4(KANSL1):c.1909G>A (p.Gly637Ser) rs752154509
NM_015443.4(KANSL1):c.1921A>G (p.Ile641Val)
NM_015443.4(KANSL1):c.2111C>T (p.Ser704Leu)
NM_015443.4(KANSL1):c.2255A>G (p.Asp752Gly)
NM_015443.4(KANSL1):c.2332G>C (p.Val778Leu) rs1472029797
NM_015443.4(KANSL1):c.2450C>G (p.Pro817Arg)
NM_015443.4(KANSL1):c.2541+18G>A
NM_015443.4(KANSL1):c.2683C>G (p.Leu895Val) rs555819683
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del) rs551968687
NM_015443.4(KANSL1):c.2838-9G>T
NM_015443.4(KANSL1):c.3064A>G (p.Thr1022Ala)
NM_015443.4(KANSL1):c.3289G>C (p.Ala1097Pro) rs2077005160
NM_015443.4(KANSL1):c.494C>T (p.Ser165Leu) rs747586763
NM_015443.4(KANSL1):c.729A>G (p.Gln243=)

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.