ClinVar Miner

List of variants reported as 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: 51
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.10508
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165 0.00005
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) rs769773673 0.00004
NM_000435.3(NOTCH3):c.1594C>T (p.Arg532Cys) rs1202763005 0.00001
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000435.3(NOTCH3):c.1136G>A (p.Cys379Tyr)
NM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys) rs863225297
NM_000435.3(NOTCH3):c.1282T>A (p.Cys428Ser) rs267606915
NM_000435.3(NOTCH3):c.1303T>C (p.Cys435Arg)
NM_000435.3(NOTCH3):c.1363T>C (p.Cys455Arg) rs28933698
NM_000435.3(NOTCH3):c.145T>C (p.Cys49Arg) rs1555730197
NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly) rs1555730197
NM_000435.3(NOTCH3):c.1492G>T (p.Gly498Cys) rs2145434841
NM_000435.3(NOTCH3):c.1531T>G (p.Cys511Gly) rs2046897246
NM_000435.3(NOTCH3):c.1547G>A (p.Cys516Tyr) rs2046897026
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys) rs1555730189
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.187G>A (p.Ala63Thr) rs864621964
NM_000435.3(NOTCH3):c.194G>A (p.Cys65Tyr) rs1555730176
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser) rs1555730176
NM_000435.3(NOTCH3):c.194G>T (p.Cys65Phe) rs1555730176
NM_000435.3(NOTCH3):c.213G>T (p.Trp71Cys) rs28937321
NM_000435.3(NOTCH3):c.224G>C (p.Arg75Pro) rs145069047
NM_000435.3(NOTCH3):c.2411-1G>T rs864621966
NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys) rs1555729604
NM_000435.3(NOTCH3):c.2963G>A (p.Cys988Tyr)
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg) rs1599382214
NM_000435.3(NOTCH3):c.3091C>T (p.Arg1031Cys) rs1285584068
NM_000435.3(NOTCH3):c.3241T>C (p.Cys1081Arg) rs2046827455
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000435.3(NOTCH3):c.341-1G>C
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys) rs1174625611
NM_000435.3(NOTCH3):c.4360del (p.Asp1454fs)
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr) rs1236699193
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) rs797045014
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.521G>C (p.Cys174Ser)
NM_000435.3(NOTCH3):c.547T>A (p.Cys183Ser)
NM_000435.3(NOTCH3):c.580T>A (p.Cys194Ser) rs1568361818
NM_000435.3(NOTCH3):c.581G>A (p.Cys194Tyr) rs2145441541
NM_000435.3(NOTCH3):c.617G>A (p.Cys206Tyr)
NM_000435.3(NOTCH3):c.699T>G (p.Cys233Trp)
NM_000435.3(NOTCH3):c.714_758del (p.Asp239_Asp253del) rs864621965
NM_000435.3(NOTCH3):c.751T>C (p.Cys251Arg) rs1568361608
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys) rs137852641
NOTCH3, ARG141CYS

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.