ClinVar Miner

List of variants in gene MKKS reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_170784.3(MKKS):c.250C>T (p.His84Tyr) rs281797258 0.00025
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_170784.3(MKKS):c.121G>C (p.Gly41Arg) rs766132697 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu) rs779116830 0.00001
NM_170784.3(MKKS):c.119C>G (p.Ser40Ter) rs753338844 0.00001
NM_170784.3(MKKS):c.1239_1242dup (p.Thr415Ter) rs1306231185 0.00001
NM_170784.3(MKKS):c.1436C>G (p.Ser479Ter) rs753180214 0.00001
NM_170784.3(MKKS):c.155G>A (p.Gly52Asp) rs28937875 0.00001
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala) rs74315399 0.00001
NM_170784.3(MKKS):c.251_252del (p.His84fs) rs756259125 0.00001
NM_170784.3(MKKS):c.29C>A (p.Ser10Ter) rs758356262 0.00001
NM_170784.3(MKKS):c.380del (p.Cys127fs) rs867346158 0.00001
NM_170784.3(MKKS):c.415C>T (p.Arg139Ter) rs142394051 0.00001
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg) rs768929313 0.00001
NM_170784.3(MKKS):c.837del (p.Gly280fs) rs776004321 0.00001
NM_170784.3(MKKS):c.890T>C (p.Ile297Thr) rs147704542 0.00001
NM_170784.3(MKKS):c.986-1G>A rs200633158 0.00001
NC_000020.11:g.(?_10405227)_(10413534_?)del
NM_170784.3(MKKS):c.-41_985+60del
NM_170784.3(MKKS):c.1013C>A (p.Ser338Ter) rs2122226112
NM_170784.3(MKKS):c.1118del (p.Leu373fs)
NM_170784.3(MKKS):c.1149G>A (p.Trp383Ter)
NM_170784.3(MKKS):c.116C>T (p.Pro39Leu) rs1270369106
NM_170784.3(MKKS):c.1181del (p.Leu394fs) rs2122223967
NM_170784.3(MKKS):c.1190del (p.Leu397fs)
NM_170784.3(MKKS):c.1225_1226del (p.Gly409fs) rs1421664374
NM_170784.3(MKKS):c.1272+1G>A rs755716827
NM_170784.3(MKKS):c.1272+2T>C
NM_170784.3(MKKS):c.1291_1337del (p.Ser431fs) rs2122220131
NM_170784.3(MKKS):c.1351dup (p.Cys451fs)
NM_170784.3(MKKS):c.1410_1413del (p.Thr470_Asp471insTer)
NM_170784.3(MKKS):c.1434G>A (p.Trp478Ter)
NM_170784.3(MKKS):c.1478del (p.Leu493fs) rs1568662687
NM_170784.3(MKKS):c.172_175dup (p.Gln59fs) rs1600849412
NM_170784.3(MKKS):c.175C>T (p.Gln59Ter) rs1334961999
NM_170784.3(MKKS):c.175_176del (p.Gln59fs) rs2122236167
NM_170784.3(MKKS):c.221del (p.Ile73_Leu74insTer)
NM_170784.3(MKKS):c.257C>A (p.Ser86Ter)
NM_170784.3(MKKS):c.281del (p.Phe94fs) rs587777827
NM_170784.3(MKKS):c.295T>C (p.Cys99Arg) rs1297985227
NM_170784.3(MKKS):c.2T>A (p.Met1Lys)
NM_170784.3(MKKS):c.2T>G (p.Met1Arg)
NM_170784.3(MKKS):c.36dup (p.Lys13Ter)
NM_170784.3(MKKS):c.372_373insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAATAAACATCTTTTG (p.Ser125delinsAlaGlyArgGlyGlySerArgLeuTer)
NM_170784.3(MKKS):c.375_381dup (p.Ile128fs) rs2122235619
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs) rs2122235362
NM_170784.3(MKKS):c.431_441del (p.Phe144fs) rs113994195
NM_170784.3(MKKS):c.432_435del (p.Phe144fs) rs1225932577
NM_170784.3(MKKS):c.432dup (p.Ser145Ter)
NM_170784.3(MKKS):c.456_459del (p.Cys152fs)
NM_170784.3(MKKS):c.47del (p.Pro16fs) rs1224308508
NM_170784.3(MKKS):c.492T>A (p.Cys164Ter) rs1568666460
NM_170784.3(MKKS):c.515_516del (p.Glu172fs) rs2064904675
NM_170784.3(MKKS):c.592_593del (p.Lys198fs) rs2064903228
NM_170784.3(MKKS):c.613A>T (p.Lys205Ter) rs1555802009
NM_170784.3(MKKS):c.63_64del (p.Arg21fs) rs754066841
NM_170784.3(MKKS):c.676C>T (p.Gln226Ter) rs2122234652
NM_170784.3(MKKS):c.732_733del (p.Phe244fs)
NM_170784.3(MKKS):c.763dup (p.Thr255fs) rs2122234387
NM_170784.3(MKKS):c.775del (p.Thr259fs) rs759131391
NM_170784.3(MKKS):c.792T>A (p.Tyr264Ter) rs74315397
NM_170784.3(MKKS):c.792T>G (p.Tyr264Ter) rs74315397
NM_170784.3(MKKS):c.867dup (p.Leu290fs) rs2122234051
NM_170784.3(MKKS):c.873_876dup (p.Cys293fs) rs113994196
NM_170784.3(MKKS):c.885dup (p.Val296fs)
NM_170784.3(MKKS):c.889dup (p.Ile297fs) rs2122233990
NM_170784.3(MKKS):c.940_941del (p.Asp314fs) rs2064897670
NM_170784.3(MKKS):c.942_945del (p.Asp314fs)
NM_170784.3(MKKS):c.950_960del (p.Gly317fs)
NM_170784.3(MKKS):c.958_959del (p.Leu320fs) rs770908659
NM_170784.3(MKKS):c.966del (p.Glu322fs)
NM_170784.3(MKKS):c.97del (p.Ile32_Val33insTer) rs2122236468

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.