ClinVar Miner

List of variants reported as benign for COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy by Athena Diagnostics Inc

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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NM_001845.6(COL4A1):c.1257T>C (p.Pro419=) rs995224
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.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.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.501C>T (p.Pro167=) rs16975612
NM_001845.6(COL4A1):c.780+7G>A rs598893
NM_001845.6(COL4A1):c.808-7C>G rs9588116
NM_001845.6(COL4A1):c.859-10T>C rs677877
NM_001845.6(COL4A1):c.958-9C>T rs73611465

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