ClinVar Miner

List of variants studied for cerebral arteriopathy with subcortical infarcts and leukoencephalopathy by OMIM

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.10508
NM_002775.5(HTRA1):c.961G>A (p.Ala321Thr) rs587776449 0.00010
NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter) rs113993970 0.00004
NM_002775.5(HTRA1):c.1108C>T (p.Arg370Ter) rs113993971 0.00003
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_002775.5(HTRA1):c.889G>A (p.Val297Met) rs113993969 0.00001
NM_000435.3(NOTCH3):c.1282T>A (p.Cys428Ser) rs267606915
NM_000435.3(NOTCH3):c.1363T>C (p.Cys455Arg) rs28933698
NM_000435.3(NOTCH3):c.1492G>T (p.Gly498Cys) rs2145434841
NM_000435.3(NOTCH3):c.187G>A (p.Ala63Thr) rs864621964
NM_000435.3(NOTCH3):c.213G>T (p.Trp71Cys) rs28937321
NM_000435.3(NOTCH3):c.2411-1G>T rs864621966
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.714_758del (p.Asp239_Asp253del) rs864621965
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys) rs137852641
NM_002775.5(HTRA1):c.126del (p.Glu42fs) rs587776448
NM_002775.5(HTRA1):c.497G>T (p.Arg166Leu) rs864622781
NM_002775.5(HTRA1):c.517G>C (p.Ala173Pro) rs781563777
NM_002775.5(HTRA1):c.754G>A (p.Ala252Thr) rs113993968
NM_002775.5(HTRA1):c.852C>A (p.Ser284Arg) rs864622782
NM_002775.5(HTRA1):c.883G>A (p.Gly295Arg) rs587776873
NM_002775.5(HTRA1):c.973-1G>A rs864622783
NOTCH3, ARG141CYS

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