ClinVar Miner

List of variants studied for COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy by Mendelics

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329
NM_001845.6(COL4A1):c.1663= (p.Pro555=) rs536174
NM_001845.6(COL4A1):c.1834G>C (p.Gly612Arg)
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) rs672601346
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys) rs62621875
NM_001846.4(COL4A2):c.5068G>A (p.Ala1690Thr) rs201105747

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