List of variants in gene HTRA1 reported as pathogenic for CARASIL syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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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.1274C>T (p.Ala425Val)	rs372750076	0.00007
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_002775.4(HTRA1):c.[126delG];[961G>A]
NM_002775.5(HTRA1):c.126del (p.Glu42fs)	rs587776448
NM_002775.5(HTRA1):c.614C>G (p.Ser205Cys)	rs1554950703
NM_002775.5(HTRA1):c.754G>A (p.Ala252Thr)	rs113993968
NM_002775.5(HTRA1):c.883G>A (p.Gly295Arg)	rs587776873

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