ClinVar Miner

List of variants in gene KDM5C studied for syndromic intellectual disability

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 139
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004187.5(KDM5C):c.2243+11G>T rs1977364 0.81756
NM_004187.5(KDM5C):c.564G>A (p.Lys188=) rs61751437 0.01076
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=) rs76525703 0.00287
NM_004187.5(KDM5C):c.2112G>A (p.Glu704=) rs782570746 0.00011
NM_004187.5(KDM5C):c.4304G>A (p.Arg1435His) rs782413552 0.00007
NM_004187.5(KDM5C):c.4334G>A (p.Arg1445His) rs782272528 0.00003
NM_004187.5(KDM5C):c.3635G>A (p.Arg1212Gln) rs141544076 0.00002
NM_004187.5(KDM5C):c.1660C>A (p.Pro554Thr) rs387906729 0.00001
NM_004187.5(KDM5C):c.2296C>T (p.Arg766Trp) rs199422238 0.00001
NM_004187.5(KDM5C):c.2517-7T>G rs1556838825 0.00001
NM_004187.5(KDM5C):c.2866G>A (p.Ala956Thr) rs1392496114 0.00001
NM_004187.5(KDM5C):c.322C>T (p.Arg108Trp) rs146232504 0.00001
NM_004187.5(KDM5C):c.3442G>A (p.Val1148Met) rs782205045 0.00001
NM_004187.5(KDM5C):c.3940C>T (p.Arg1314Trp) rs370060257 0.00001
NM_004187.5(KDM5C):c.4286C>T (p.Pro1429Leu) rs1556832824 0.00001
NM_004187.5(KDM5C):c.4523C>T (p.Pro1508Leu) rs1556832305 0.00001
NM_004187.5(KDM5C):c.4566C>A (p.Asn1522Lys) rs1245355138 0.00001
NM_004187.5(KDM5C):c.475C>T (p.Arg159Cys) rs1556852786 0.00001
NM_004187.5(KDM5C):c.659C>T (p.Pro220Leu) rs2073736194 0.00001
NM_004187.5(KDM5C):c.860C>T (p.Ser287Leu) rs1428740468 0.00001
NM_004187.5(KDM5C):c.893T>A (p.Leu298Gln) rs137861376 0.00001
NM_004187.5(KDM5C):c.*129C>T rs1602156447
NM_004187.5(KDM5C):c.1007_1014dup (p.Leu339fs)
NM_004187.5(KDM5C):c.1151G>A (p.Gly384Asp)
NM_004187.5(KDM5C):c.1162G>C (p.Ala388Pro) rs199422235
NM_004187.5(KDM5C):c.1178C>T (p.Thr393Ile)
NM_004187.5(KDM5C):c.1204G>A (p.Asp402Asn)
NM_004187.5(KDM5C):c.1243-3C>T
NM_004187.5(KDM5C):c.1267_1269del (p.Lys423del)
NM_004187.5(KDM5C):c.12dup (p.Ser5fs) rs2146978931
NM_004187.5(KDM5C):c.1318T>G (p.Tyr440Asp)
NM_004187.5(KDM5C):c.1353C>G (p.Ser451Arg) rs199422237
NM_004187.5(KDM5C):c.1354G>A (p.Gly452Ser) rs2073559814
NM_004187.5(KDM5C):c.1361_1362del (p.Pro454fs) rs2146919819
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu) rs1057518697
NM_004187.5(KDM5C):c.1447del (p.Glu483fs)
NM_004187.5(KDM5C):c.1549dup (p.Asp517fs) rs2146915836
NM_004187.5(KDM5C):c.1565C>T (p.Ser522Phe) rs2146915737
NM_004187.5(KDM5C):c.156G>T (p.Trp52Cys) rs886037836
NM_004187.5(KDM5C):c.1574A>G (p.Tyr525Cys)
NM_004187.5(KDM5C):c.1583+5G>T rs2073531540
NM_004187.5(KDM5C):c.1586G>C (p.Gly529Ala) rs2146914851
NM_004187.5(KDM5C):c.1592C>T (p.Pro531Leu)
NM_004187.5(KDM5C):c.1602G>C (p.Trp534Cys) rs2146914735
NM_004187.5(KDM5C):c.1607G>A (p.Gly536Glu)
NM_004187.5(KDM5C):c.1613C>T (p.Pro538Leu) rs587780372
NM_004187.5(KDM5C):c.1616C>G (p.Ser539Ter)
NM_004187.5(KDM5C):c.1681C>G (p.Pro561Ala) rs2146914266
NM_004187.5(KDM5C):c.1685A>T (p.Asp562Val)
NM_004187.5(KDM5C):c.1747G>T (p.Val583Phe) rs1602183890
NM_004187.5(KDM5C):c.1793C>G (p.Pro598Arg)
NM_004187.5(KDM5C):c.1795C>T (p.Arg599Cys)
NM_004187.5(KDM5C):c.1823G>T (p.Gly608Val) rs2073151214
NM_004187.5(KDM5C):c.1839G>T (p.Glu613Asp)
NM_004187.5(KDM5C):c.1843G>T (p.Val615Phe) rs2146868023
NM_004187.5(KDM5C):c.1862A>G (p.Asp621Gly) rs2146867887
NM_004187.5(KDM5C):c.1866G>A (p.Trp622Ter)
NM_004187.5(KDM5C):c.1866G>T (p.Trp622Cys) rs1602183619
NM_004187.5(KDM5C):c.189C>A (p.Phe63Leu)
NM_004187.5(KDM5C):c.1922T>G (p.Val641Gly)
NM_004187.5(KDM5C):c.202dup (p.Arg68fs) rs782600511
NM_004187.5(KDM5C):c.2080C>T (p.Arg694Ter) rs199422236
NM_004187.5(KDM5C):c.208C>T (p.Gln70Ter) rs2146961698
NM_004187.5(KDM5C):c.2114G>A (p.Arg705His) rs1569264240
NM_004187.5(KDM5C):c.2116C>T (p.Gln706Ter) rs2146852767
NM_004187.5(KDM5C):c.2172C>A (p.Cys724Ter) rs281860639
NM_004187.5(KDM5C):c.2191C>T (p.Leu731Phe) rs199422234
NM_004187.5(KDM5C):c.2209C>G (p.Leu737Val)
NM_004187.5(KDM5C):c.2214C>A (p.Cys738Ter)
NM_004187.5(KDM5C):c.2243+1G>T rs2073058023
NM_004187.5(KDM5C):c.2248C>T (p.Arg750Trp) rs2146851322
NM_004187.5(KDM5C):c.2291del (p.Lys764fs)
NM_004187.5(KDM5C):c.229G>A (p.Ala77Thr) rs199422239
NM_004187.5(KDM5C):c.2329G>C (p.Val777Leu) rs2073052954
NM_004187.5(KDM5C):c.2474G>A (p.Cys825Tyr)
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter) rs1135401800
NM_004187.5(KDM5C):c.2516+3A>G
NM_004187.5(KDM5C):c.2517-15T>A
NM_004187.5(KDM5C):c.2517_2622del rs2146844343
NM_004187.5(KDM5C):c.255C>G (p.Tyr85Ter) rs1602231587
NM_004187.5(KDM5C):c.2622+2dup rs1057519393
NM_004187.5(KDM5C):c.2624G>A (p.Gly875Asp) rs2146840102
NM_004187.5(KDM5C):c.2674G>A (p.Ala892Thr) rs2146839898
NM_004187.5(KDM5C):c.269C>T (p.Ala90Val) rs2073805082
NM_004187.5(KDM5C):c.2704C>T (p.Gln902Ter)
NM_004187.5(KDM5C):c.2768G>A (p.Arg923Gln) rs1556837428
NM_004187.5(KDM5C):c.2785C>G (p.Arg929Gly)
NM_004187.5(KDM5C):c.2813_2816dup (p.Pro940fs)
NM_004187.5(KDM5C):c.2908C>T (p.Gln970Ter) rs2146837810
NM_004187.5(KDM5C):c.2909A>T (p.Gln970Leu)
NM_004187.5(KDM5C):c.2993del (p.Pro998fs)
NM_004187.5(KDM5C):c.29C>T (p.Pro10Leu)
NM_004187.5(KDM5C):c.3058C>T (p.Gln1020Ter) rs1556836399
NM_004187.5(KDM5C):c.3072G>T (p.Glu1024Asp) rs2146833113
NM_004187.5(KDM5C):c.3085G>C (p.Ala1029Pro)
NM_004187.5(KDM5C):c.3118C>T (p.Gln1040Ter) rs782246658
NM_004187.5(KDM5C):c.3134A>T (p.Tyr1045Phe)
NM_004187.5(KDM5C):c.3199G>T (p.Glu1067Ter)
NM_004187.5(KDM5C):c.3208C>T (p.Gln1070Ter)
NM_004187.5(KDM5C):c.3244dup (p.Arg1082fs) rs1934751829
NM_004187.5(KDM5C):c.3332_3335del (p.Asp1111fs) rs1934728804
NM_004187.5(KDM5C):c.3344G>A (p.Arg1115His)
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs)
NM_004187.5(KDM5C):c.3412C>T (p.Gln1138Ter) rs1934722562
NM_004187.5(KDM5C):c.3499A>G (p.Thr1167Ala)
NM_004187.5(KDM5C):c.3517A>T (p.Ser1173Cys) rs1602162404
NM_004187.5(KDM5C):c.3570_3573del (p.Gly1191fs)
NM_004187.5(KDM5C):c.3597_3601del (p.Leu1200fs) rs1131692227
NM_004187.5(KDM5C):c.359T>C (p.Val120Ala) rs2146951019
NM_004187.5(KDM5C):c.3624G>A (p.Trp1208Ter)
NM_004187.5(KDM5C):c.3656T>G (p.Leu1219Arg)
NM_004187.5(KDM5C):c.3749C>G (p.Ser1250Ter)
NM_004187.5(KDM5C):c.3758C>T (p.Pro1253Leu) rs2146821316
NM_004187.5(KDM5C):c.3845_3846del (p.Thr1282fs)
NM_004187.5(KDM5C):c.3895G>T (p.Glu1299Ter) rs1934657828
NM_004187.5(KDM5C):c.3961C>A (p.Pro1321Thr)
NM_004187.5(KDM5C):c.3962C>G (p.Pro1321Arg)
NM_004187.5(KDM5C):c.3965_3985del (p.Glu1322_Pro1328del) rs2146819410
NM_004187.5(KDM5C):c.4046del (p.Gly1349fs)
NM_004187.5(KDM5C):c.4118-2A>G rs2146815883
NM_004187.5(KDM5C):c.4118-9A>G
NM_004187.5(KDM5C):c.4262A>G (p.Gln1421Arg)
NM_004187.5(KDM5C):c.4343G>A (p.Ser1448Asn)
NM_004187.5(KDM5C):c.4495G>A (p.Glu1499Lys)
NM_004187.5(KDM5C):c.469T>A (p.Tyr157Asn)
NM_004187.5(KDM5C):c.470A>G (p.Tyr157Cys) rs1556852793
NM_004187.5(KDM5C):c.548A>G (p.Asn183Ser)
NM_004187.5(KDM5C):c.589dup (p.Leu197fs) rs1602228596
NM_004187.5(KDM5C):c.593G>A (p.Arg198Gln)
NM_004187.5(KDM5C):c.595C>T (p.Gln199Ter) rs1556852362
NM_004187.5(KDM5C):c.769_770del (p.Leu257fs) rs1060499661
NM_004187.5(KDM5C):c.802C>T (p.Pro268Ser)
NM_004187.5(KDM5C):c.807del (p.Thr270fs) rs1569278313
NM_004187.5(KDM5C):c.865A>G (p.Lys289Glu) rs782081983
NM_004187.5(KDM5C):c.917C>T (p.Thr306Ile)
NM_004187.5(KDM5C):c.964A>G (p.Ile322Val)
NM_004187.5(KDM5C):c.974_975del (p.Tyr325fs)
NM_004187.5(KDM5C):c.994C>T (p.Arg332Ter) rs2146934865
NM_004187.5(KDM5C):c.997G>C (p.Gly333Arg) rs2146934832

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.