ClinVar Miner

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

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_001845.6(COL4A1):c.1492G>C (p.Gly498Arg) rs267606744
NM_001845.6(COL4A1):c.1493G>T (p.Gly498Val) rs113994104
NM_001845.6(COL4A1):c.1528G>A (p.Gly510Arg) rs267606743
NM_001845.6(COL4A1):c.1555G>A (p.Gly519Arg) rs113994105
NM_001845.6(COL4A1):c.1573_1574delinsTT (p.Gly525Leu) rs281865426
NM_001845.6(COL4A1):c.1583G>A (p.Gly528Glu) rs113994106
NM_001845.6(COL4A1):c.1685G>A (p.Gly562Glu) rs121912857
NM_001845.6(COL4A1):c.1A>T (p.Met1Leu) rs113994103
NM_001845.6(COL4A1):c.2085del (p.Gly696fs) rs606231464
NM_001845.6(COL4A1):c.2122G>A (p.Gly708Arg) rs672601349
NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp) rs113994108
NM_001845.6(COL4A1):c.2194-1G>A rs606231465
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) rs113994109
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) rs672601346
NM_001845.6(COL4A1):c.2317G>C (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.3104G>T (p.Gly1035Val) rs1555302922
NM_001845.6(COL4A1):c.3389G>A (p.Gly1130Asp) rs113994111
NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg) rs113994112
NM_001845.6(COL4A1):c.3976G>A (p.Gly1326Arg) rs587777379
NM_001845.6(COL4A1):c.4267G>C (p.Gly1423Arg) rs113994113
NM_001845.6(COL4A1):c.4738G>C (p.Gly1580Arg) rs113994114
NM_001845.6(COL4A1):c.4881C>G (p.Asn1627Lys) rs672601348
NM_001846.4(COL4A2):c.1776+1G>A rs886039602
NM_001846.4(COL4A2):c.3110G>A (p.Gly1037Glu) rs387906603
NM_001846.4(COL4A2):c.3455G>A (p.Gly1152Asp) rs387906602
NM_001846.4(COL4A2):c.4129G>A (p.Gly1377Arg)
NM_024656.4(COLGALT1):c.1096del (p.Glu366fs) rs1568481204
NM_024656.4(COLGALT1):c.1129G>C (p.Gly377Arg) rs1568481244
NM_024656.4(COLGALT1):c.452T>G (p.Leu151Arg) rs1478523191
NM_024656.4(COLGALT1):c.460G>C (p.Ala154Pro) rs181844791

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