ClinVar Miner

List of variants in gene HTRA1 reported as likely pathogenic for cerebral arteriopathy with subcortical infarcts and leukoencephalopathy

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter) rs113993970 0.00004
NM_002775.5(HTRA1):c.235C>T (p.Gln79Ter) rs2097481554
NM_002775.5(HTRA1):c.359G>A (p.Gly120Asp) rs1554948318
NM_002775.5(HTRA1):c.496C>T (p.Arg166Cys) rs2097494390
NM_002775.5(HTRA1):c.536T>A (p.Ile179Asn) rs1554950655
NM_002775.5(HTRA1):c.660C>G (p.His220Gln) rs1357930157
NM_002775.5(HTRA1):c.671del (p.Asn224fs)
NM_002775.5(HTRA1):c.820C>G (p.Arg274Gly) rs748074236
NM_002775.5(HTRA1):c.827G>C (p.Gly276Ala) rs1554952277
NM_002775.5(HTRA1):c.905G>A (p.Arg302Gln) rs2133449474
NM_002775.5(HTRA1):c.971A>C (p.Asn324Thr) rs1267457680
NM_002775.5(HTRA1):c.972+1G>C rs1432594571

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