List of variants studied for bilateral frontoparietal polymicrogyria by Genome-Nilou Lab

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_201525.4(ADGRG1):c.996T>C (p.Thr332=)	rs1376041	0.79529
NM_201525.4(ADGRG1):c.*38T>G	rs10852554	0.76824
NM_201525.4(ADGRG1):c.621-184A>C	rs8054093	0.67118
NM_201525.4(ADGRG1):c.*74C>A	rs10852555	0.49555
NM_201525.4(ADGRG1):c.1167+77C>A	rs11866912	0.48895
NM_201525.4(ADGRG1):c.1168-20C>A	rs2305309	0.37206
NM_201525.4(ADGRG1):c.1665-5C>T	rs2290177	0.20927
NM_201525.4(ADGRG1):c.918A>C (p.Gln306His)	rs1801255	0.20047
NM_005682.7(ADGRG1):c.1287-60G>A	rs60907901	0.17823
NM_201525.4(ADGRG1):c.191C>T (p.Ala64Val)	rs199870082	0.00002
NM_201525.4(ADGRG1):c.703G>A (p.Ala235Thr)	rs139207635	0.00002
NM_201525.4(ADGRG1):c.1665-41C>T	rs17240890
NM_201525.4(ADGRG1):c.843C>G (p.Ser281Arg)	rs1801257

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.