ClinVar Miner

List of variants reported as pathogenic for brain small vessel disease 3 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
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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