ClinVar Miner

List of variants reported as benign for CARASIL syndrome

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.1274+8G>A rs2672586 0.99939
NM_002775.5(HTRA1):c.1274+14G>A rs2272599 0.63755
NM_002775.5(HTRA1):c.102C>T (p.Ala34=) rs1049331 0.22934
NM_002775.5(HTRA1):c.1275-36C>T rs2293871 0.17476
NM_002775.5(HTRA1):c.59C>T (p.Ala20Val) rs369149111 0.00841
NM_002775.5(HTRA1):c.108G>C (p.Gly36=) rs2293870
NM_002775.5(HTRA1):c.108G>T (p.Gly36=) rs2293870

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