ClinVar Miner

List of variants reported as benign for COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP
NM_001845.6(COL4A1):c.*587C>A rs13260
NM_001845.6(COL4A1):c.-90G>T rs113651836
NM_001845.6(COL4A1):c.1084+5C>G rs74508743
NM_001845.6(COL4A1):c.1257T>C (p.Pro419=) rs995224
NM_001845.6(COL4A1):c.1663= (p.Pro555=) rs536174
NM_001845.6(COL4A1):c.1815T>C (p.Pro605=) rs61749897
NM_001845.6(COL4A1):c.19G>C (p.Val7Leu) rs9515185
NM_001845.6(COL4A1):c.2124G>A (p.Gly708=) rs78426988
NM_001845.6(COL4A1):c.2130G>A (p.Pro710=) rs16975492
NM_001845.6(COL4A1):c.234+8C>T rs9521650
NM_001845.6(COL4A1):c.3183G>A (p.Gly1061=) rs874204
NM_001845.6(COL4A1):c.3189A>T (p.Arg1063=) rs874203
NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=) rs117738194
NM_001845.6(COL4A1):c.3877-9C>T rs589985
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) rs150857429
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) rs3742207
NM_001845.6(COL4A1):c.432T>A (p.Ala144=) rs532625
NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=) rs1133219
NM_001845.6(COL4A1):c.4640+7C>T rs2275843
NM_001845.6(COL4A1):c.468+5ATTTT[2] rs3832900
NM_001845.6(COL4A1):c.4800C>T (p.Ser1600=) rs650724
NM_001845.6(COL4A1):c.616-11G>C rs645114
NM_001845.6(COL4A1):c.780+7G>A rs598893
NM_001845.6(COL4A1):c.808-7C>A rs9588116
NM_001845.6(COL4A1):c.808-7C>G rs9588116
NM_001845.6(COL4A1):c.85-11T>C rs41275104
NM_001845.6(COL4A1):c.859-10T>C rs677877
NM_001845.6(COL4A1):c.958-9C>T rs73611465
NM_001846.4(COL4A2):c.-133A>G rs35466678
NM_001846.4(COL4A2):c.-203T>C rs7991332
NM_001846.4(COL4A2):c.-215C>T rs7990017
NM_001846.4(COL4A2):c.-232C>G rs7990009
NM_001846.4(COL4A2):c.-277A>C rs7989823

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