ClinVar Miner

List of variants in gene MCPH1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024596.5(MCPH1):c.2452+97C>T rs115375310 0.01552
NM_024596.5(MCPH1):c.671-176T>G rs62496812 0.01548
NM_024596.5(MCPH1):c.115-56A>G rs76553875 0.01515
NM_024596.5(MCPH1):c.233+289A>T rs78101455 0.01147
NC_000008.11:g.6406587C>T rs190692683 0.01025
NM_024596.5(MCPH1):c.114+187T>C rs114102079 0.00758
NM_024596.5(MCPH1):c.1974-130G>A rs115299416 0.00729
NM_024596.5(MCPH1):c.2136+74A>G rs79036233 0.00703
NM_024596.5(MCPH1):c.1936-87A>C rs2979667 0.00695
NM_024596.5(MCPH1):c.*199G>A rs17317651 0.00596
NM_024596.5(MCPH1):c.2452+313G>A rs143238857 0.00586
NM_024596.5(MCPH1):c.321+215C>G rs78909070 0.00500
NM_024596.5(MCPH1):c.1974-306C>T rs143254256 0.00391
NM_024596.5(MCPH1):c.2137-293A>G rs184911152 0.00363
NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys) rs115088000 0.00334
NM_024596.5(MCPH1):c.1781C>T (p.Thr594Met) rs115033462 0.00319
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly) rs45540031 0.00217
NM_024596.5(MCPH1):c.1236T>C (p.Tyr412=) rs142858644 0.00120
NM_024596.5(MCPH1):c.321+47C>T rs192919183 0.00049
NM_024596.5(MCPH1):c.436+46A>G rs200561926 0.00047
NM_024596.5(MCPH1):c.1785T>C (p.Ser595=) rs146744659 0.00035
NM_024596.5(MCPH1):c.115-14C>T rs200346652 0.00028
NM_024596.5(MCPH1):c.867G>A (p.Gln289=) rs201231900 0.00019
NM_024596.5(MCPH1):c.2274C>T (p.Asp758=) rs186136373 0.00010
NM_024596.5(MCPH1):c.671A>G (p.Asp224Gly) rs770989341 0.00006
NM_024596.5(MCPH1):c.297C>T (p.His99=) rs727504012 0.00003
NM_024596.5(MCPH1):c.1351G>A (p.Glu451Lys) rs202004426
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721
NM_024596.5(MCPH1):c.2136+228A>G rs140616360
NM_024596.5(MCPH1):c.2256C>T (p.Arg752=) rs35999761
NM_024596.5(MCPH1):c.23-233G>C rs148784485
NM_024596.5(MCPH1):c.2453-271C>A rs2433148
NM_024596.5(MCPH1):c.305G>C (p.Ser102Thr) rs2290145
NM_024596.5(MCPH1):c.322-291G>T rs138429838
NM_024596.5(MCPH1):c.433C>T (p.Leu145=) rs139607465
NM_024596.5(MCPH1):c.580+276dup rs201822930
NM_024596.5(MCPH1):c.580+284_580+285dup rs34298347
NM_024596.5(MCPH1):c.581-29C>A rs140161935

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.