ClinVar Miner

List of variants in gene HTRA1 reported as pathogenic for CADASIL

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_002775.4(HTRA1):c.973_1005del33 rs864622783
NM_002775.5(HTRA1):c.497G>T (p.Arg166Leu) rs864622781
NM_002775.5(HTRA1):c.517G>C (p.Ala173Pro) rs781563777
NM_002775.5(HTRA1):c.543del (p.Ala182fs) rs1273355332
NM_002775.5(HTRA1):c.767T>C (p.Ile256Thr) rs201305795
NM_002775.5(HTRA1):c.852C>A (p.Ser284Arg) rs864622782
NM_002775.5(HTRA1):c.865C>T (p.Gln289Ter) rs1554952291

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