ClinVar Miner

List of variants in gene PNPLA6 reported as likely pathogenic for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_001166114.2(PNPLA6):c.3496G>A (p.Gly1166Ser) rs142422525 0.00002
NM_001166114.2(PNPLA6):c.3518G>A (p.Arg1173Gln) rs1057517802 0.00001
NM_001166114.2(PNPLA6):c.3816+1G>A rs1490826010 0.00001
NM_001166114.2(PNPLA6):c.4046G>A (p.Arg1349Gln) rs368661376 0.00001
NM_001166114.2(PNPLA6):c.1005+1G>T rs772913881
NM_001166114.2(PNPLA6):c.1168+1G>C
NM_001166114.2(PNPLA6):c.1345del (p.Leu449fs) rs781364197
NM_001166114.2(PNPLA6):c.1608+2T>C rs2023231095
NM_001166114.2(PNPLA6):c.1678G>T (p.Asp560Tyr)
NM_001166114.2(PNPLA6):c.1946+2T>G
NM_001166114.2(PNPLA6):c.2184+1G>A
NM_001166114.2(PNPLA6):c.2184+2T>G
NM_001166114.2(PNPLA6):c.2260+1G>C
NM_001166114.2(PNPLA6):c.2575C>T (p.Arg859Ter)
NM_001166114.2(PNPLA6):c.2684_2688del (p.Val895fs)
NM_001166114.2(PNPLA6):c.2934_2936+13del rs1167314561
NM_001166114.2(PNPLA6):c.2936+2T>C
NM_001166114.2(PNPLA6):c.315+1G>T
NM_001166114.2(PNPLA6):c.3355G>C (p.Gly1119Arg) rs773955314
NM_001166114.2(PNPLA6):c.3412A>T (p.Ser1138Cys)
NM_001166114.2(PNPLA6):c.3614T>C (p.Val1205Ala) rs1211079280
NM_001166114.2(PNPLA6):c.3913+1G>A
NM_001166114.2(PNPLA6):c.413+1G>A
NM_001166114.2(PNPLA6):c.714+1G>A
NM_001166114.2(PNPLA6):c.898C>G (p.Pro300Ala) rs1057518936
NM_001166114.2(PNPLA6):c.913C>T (p.Arg305Trp) rs866964055

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.