ClinVar Miner

List of variants reported as pathogenic for CARASIL by GeneReviews

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_002775.4(HTRA1):c.[126delG];[961G>A]
NM_002775.5(HTRA1):c.1091T>C (p.Leu364Pro) rs587776447
NM_002775.5(HTRA1):c.1108C>T (p.Arg370Ter) rs113993971
NM_002775.5(HTRA1):c.754G>A (p.Ala252Thr) rs113993968
NM_002775.5(HTRA1):c.821G>A (p.Arg274Gln) rs587776445
NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu) rs587776446
NM_002775.5(HTRA1):c.883G>A (p.Gly295Arg) rs587776873
NM_002775.5(HTRA1):c.889G>A (p.Val297Met) rs113993969
NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter) rs113993970

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