ClinVar Miner

List of variants reported as likely pathogenic for cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys) rs370504038 0.00012
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298 0.00004
NM_033629.6(TREX1):c.416del (p.Ala139fs) rs763229085 0.00004
NM_000435.3(NOTCH3):c.3427C>T (p.Arg1143Cys) rs60373464 0.00003
NM_000435.3(NOTCH3):c.2038C>T (p.Arg680Cys) rs1250956327 0.00001
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys) rs1438626607 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys) rs1323608032
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys) rs1599391536
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys) rs762734007
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys) rs1555730189
NM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr) rs1555730188
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.1676G>A (p.Cys559Tyr) rs2145433195
NM_000435.3(NOTCH3):c.169C>T (p.Gln57Ter)
NM_000435.3(NOTCH3):c.1702T>C (p.Cys568Arg)
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys) rs754554486
NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys) rs764148985
NM_000435.3(NOTCH3):c.1791C>G (p.Cys597Trp)
NM_000435.3(NOTCH3):c.231_248del (p.Gln77_Cys82del)
NM_000435.3(NOTCH3):c.2353C>T (p.Arg785Cys)
NM_000435.3(NOTCH3):c.2701T>C (p.Cys901Arg) rs2046843049
NM_000435.3(NOTCH3):c.2815T>C (p.Cys939Arg)
NM_000435.3(NOTCH3):c.2903C>A (p.Ser968Ter)
NM_000435.3(NOTCH3):c.2953C>T (p.Arg985Cys) rs1188569102
NM_000435.3(NOTCH3):c.29_53del (p.Arg10fs)
NM_000435.3(NOTCH3):c.3009G>C (p.Trp1003Cys) rs1241704923
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg) rs1599382214
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000435.3(NOTCH3):c.3782G>A (p.Cys1261Tyr)
NM_000435.3(NOTCH3):c.382T>C (p.Cys128Arg) rs2046934971
NM_000435.3(NOTCH3):c.3945C>G (p.Cys1315Trp)
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.398G>T (p.Arg133Leu) rs151016108
NM_000435.3(NOTCH3):c.431G>T (p.Cys144Phe)
NM_000435.3(NOTCH3):c.458G>A (p.Arg153His)
NM_000435.3(NOTCH3):c.463T>G (p.Cys155Gly) rs2046933681
NM_000435.3(NOTCH3):c.520T>C (p.Cys174Arg) rs1599394806
NM_000435.3(NOTCH3):c.547T>C (p.Cys183Arg) rs2145441707
NM_000435.3(NOTCH3):c.555T>G (p.Cys185Trp) rs2046932414
NM_000435.3(NOTCH3):c.6409_6410del (p.Leu2137fs)
NM_000435.3(NOTCH3):c.698G>A (p.Cys233Tyr) rs2145440883
NM_000435.3(NOTCH3):c.752G>T (p.Cys251Phe) rs1555729405
NM_000435.3(NOTCH3):c.779G>T (p.Cys260Phe) rs2046928618
NM_000435.3(NOTCH3):c.932G>T (p.Cys311Phe) rs1555729346
NM_000435.3(NOTCH3):c.967T>A (p.Cys323Ser) rs2145439777

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.