ClinVar Miner

List of variants reported as pathogenic for CARASIL syndrome by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002775.5(HTRA1):c.961G>A (p.Ala321Thr) rs587776449 0.00010
NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter) rs113993970 0.00004
NM_002775.5(HTRA1):c.1108C>T (p.Arg370Ter) rs113993971 0.00003
NM_002775.5(HTRA1):c.889G>A (p.Val297Met) rs113993969 0.00001
NM_002775.5(HTRA1):c.126del (p.Glu42fs) rs587776448
NM_002775.5(HTRA1):c.754G>A (p.Ala252Thr) rs113993968
NM_002775.5(HTRA1):c.883G>A (p.Gly295Arg) rs587776873

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