ClinVar Miner

List of variants reported as likely pathogenic for MKKS-related ciliopathy

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_170784.3(MKKS):c.749G>A (p.Gly250Glu) rs972466774 0.00003
NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu) rs779116830 0.00001
NM_170784.3(MKKS):c.1175C>T (p.Thr392Met) rs201183584 0.00001
NM_170784.3(MKKS):c.119C>G (p.Ser40Ter) rs753338844 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.748G>A (p.Gly250Arg) rs768929313 0.00001
NM_170784.3(MKKS):c.837del (p.Gly280fs) rs776004321 0.00001
NM_170784.3(MKKS):c.1273-1G>C
NM_170784.3(MKKS):c.1273-5_1273-2delinsAAAG
NM_170784.3(MKKS):c.1353del (p.Phe450_Cys451insTer)
NM_170784.3(MKKS):c.1354_1358del (p.Ser452fs)
NM_170784.3(MKKS):c.1362_1369dup (p.Val457fs) rs2122220042
NM_170784.3(MKKS):c.1368del (p.Val457fs)
NM_170784.3(MKKS):c.1410_1413del (p.Thr470_Asp471insTer)
NM_170784.3(MKKS):c.1434G>A (p.Trp478Ter)
NM_170784.3(MKKS):c.1470G>A (p.Trp490Ter)
NM_170784.3(MKKS):c.1486C>T (p.Gln496Ter)
NM_170784.3(MKKS):c.1529G>A (p.Trp510Ter)
NM_170784.3(MKKS):c.1530G>A (p.Trp510Ter)
NM_170784.3(MKKS):c.1646T>C (p.Leu549Pro)
NM_170784.3(MKKS):c.175C>T (p.Gln59Ter) rs1334961999
NM_170784.3(MKKS):c.182C>G (p.Ser61Ter)
NM_170784.3(MKKS):c.187_188dup (p.Leu64fs)
NM_170784.3(MKKS):c.196_197insCT (p.His66fs)
NM_170784.3(MKKS):c.221T>G (p.Leu74Ter)
NM_170784.3(MKKS):c.252del (p.His84fs)
NM_170784.3(MKKS):c.257C>A (p.Ser86Ter)
NM_170784.3(MKKS):c.295T>C (p.Cys99Arg) rs1297985227
NM_170784.3(MKKS):c.348del (p.Ile117fs)
NM_170784.3(MKKS):c.383_391delinsG (p.Ile128fs)
NM_170784.3(MKKS):c.40_41del (p.Lys13_Ser14insTer)
NM_170784.3(MKKS):c.429_434delinsTT (p.Phe144fs) rs2122235362
NM_170784.3(MKKS):c.432del (p.Phe144fs)
NM_170784.3(MKKS):c.432dup (p.Ser145Ter)
NM_170784.3(MKKS):c.515_516del (p.Glu172fs) rs2064904675
NM_170784.3(MKKS):c.611del (p.Pro203_Leu204insTer)
NM_170784.3(MKKS):c.619C>T (p.Gln207Ter)
NM_170784.3(MKKS):c.619del (p.Gln207fs)
NM_170784.3(MKKS):c.61A>T (p.Arg21Ter)
NM_170784.3(MKKS):c.63_64del (p.Arg21fs) rs754066841
NM_170784.3(MKKS):c.668C>A (p.Ser223Ter)
NM_170784.3(MKKS):c.732_733del (p.Phe244fs)
NM_170784.3(MKKS):c.844C>T (p.Gln282Ter)
NM_170784.3(MKKS):c.845dup (p.Leu283fs) rs1555801973
NM_170784.3(MKKS):c.848T>C (p.Leu283Pro)
NM_170784.3(MKKS):c.867dup (p.Leu290fs) rs2122234051
NM_170784.3(MKKS):c.871G>T (p.Val291Phe)
NM_170784.3(MKKS):c.883A>T (p.Lys295Ter)
NM_170784.3(MKKS):c.886del (p.Val296fs)
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.966del (p.Glu322fs)

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.