ClinVar Miner

List of variants reported as uncertain significance for bilateral frontoparietal polymicrogyria by Natera, Inc.

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_201525.4(ADGRG1):c.1287-28G>C rs60624815 0.00163
NM_201525.4(ADGRG1):c.1810C>T (p.Leu604=) rs113358058 0.00157
NM_201525.4(ADGRG1):c.711G>A (p.Val237=) rs148219127 0.00055
NM_201525.4(ADGRG1):c.1270G>A (p.Ala424Thr) rs147479620 0.00035
NM_201525.4(ADGRG1):c.14C>T (p.Ser5Leu) rs147879224 0.00033
NM_201525.4(ADGRG1):c.214C>T (p.Pro72Ser) rs144561715 0.00030
NM_201525.4(ADGRG1):c.401C>T (p.Pro134Leu) rs138344683 0.00018
NM_201525.4(ADGRG1):c.760C>T (p.Arg254Trp) rs368130981 0.00014
NM_201525.4(ADGRG1):c.1371C>T (p.Ser457=) rs747812668 0.00010
NM_201525.4(ADGRG1):c.26C>T (p.Thr9Met) rs200241873 0.00010
NM_201525.4(ADGRG1):c.1780C>T (p.Arg594Cys) rs371152613 0.00006
NM_201525.4(ADGRG1):c.111G>A (p.Gln37=) rs775331098 0.00003
NM_201525.4(ADGRG1):c.1798T>C (p.Trp600Arg) rs1414923097 0.00003
NM_201525.4(ADGRG1):c.304C>T (p.His102Tyr) rs1260128774 0.00003
NM_201525.4(ADGRG1):c.1665G>T (p.Met555Ile) rs370457958 0.00002
NM_201525.4(ADGRG1):c.2057G>A (p.Arg686His) rs768017345 0.00002
NM_201525.4(ADGRG1):c.490C>A (p.Pro164Thr) rs781499938 0.00002
NM_201525.4(ADGRG1):c.937T>C (p.Leu313=) rs776724275 0.00002
NM_201525.4(ADGRG1):c.1183G>A (p.Val395Met) rs1343993863 0.00001
NM_201525.4(ADGRG1):c.1377G>A (p.Pro459=) rs772599432 0.00001
NM_201525.4(ADGRG1):c.157G>C (p.Asp53His) rs758040938 0.00001
NM_201525.4(ADGRG1):c.287G>A (p.Arg96Gln) rs587783659 0.00001
NM_201525.4(ADGRG1):c.621-5G>A rs202245406 0.00001
NM_201525.4(ADGRG1):c.1170C>A (p.Val390=) rs1255029602
NM_201525.4(ADGRG1):c.412A>C (p.Thr138Pro) rs560954695
NM_201525.4(ADGRG1):c.641C>G (p.Ser214Trp) rs114515505
NM_201525.4(ADGRG1):c.685G>A (p.Glu229Lys) rs572021323

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.