ClinVar Miner

List of variants reported as likely pathogenic for complex neurodevelopmental disorder by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004204.5(PIGQ):c.942+1G>A rs200661329 0.00006
NM_015213.4(DENND5A):c.2314C>T (p.Arg772Ter) rs1057519563 0.00003
NM_015047.3(EMC1):c.245C>T (p.Thr82Met) rs869320625 0.00002
NM_000817.3(GAD1):c.1297G>T (p.Gly433Ter)
NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer) rs2148659508
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs) rs267608424
NM_001110792.2(MECP2):c.254_260del (p.Ala85fs) rs2148666767
NM_001110792.2(MECP2):c.386C>G (p.Ala129Gly)
NM_001110792.2(MECP2):c.507C>A (p.Phe169Leu) rs267608484
NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter) rs193922679
NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu) rs878853312
NM_001110792.2(MECP2):c.764_767del (p.Thr255fs) rs1569548428
NM_001127222.2(CACNA1A):c.2343dup (p.Arg782fs)
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys) rs794727558
NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del rs1568440440
NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter) rs1555730878
NM_001271.4(CHD2):c.1154-1G>T
NM_001271.4(CHD2):c.2764del (p.Glu922fs) rs2141844216
NM_005249.5(FOXG1):c.619A>T (p.Ile207Phe) rs2138661244
NM_019066.5(MAGEL2):c.3449_3450del (p.Phe1150fs) rs998860333

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.