ClinVar Miner

List of variants in gene COL4A2 reported as pathogenic for COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001846.4(COL4A2):c.1776+1G>A rs886039602
NM_001846.4(COL4A2):c.3110G>A (p.Gly1037Glu) rs387906603
NM_001846.4(COL4A2):c.316-1G>C rs1566525717
NM_001846.4(COL4A2):c.3455G>A (p.Gly1152Asp) rs387906602
NM_001846.4(COL4A2):c.4129G>A (p.Gly1377Arg)

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