ClinVar Miner

List of variants studied for Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2

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Total variants: 29
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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.1275-36C>T rs2293871 0.17476
NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter) rs113993970 0.00004
NM_002775.5(HTRA1):c.590G>A (p.Arg197Gln) rs1180835237 0.00001
NM_002775.5(HTRA1):c.767T>C (p.Ile256Thr) rs201305795 0.00001
NM_002775.5(HTRA1):c.835G>A (p.Val279Met) rs745305935 0.00001
NM_002775.5(HTRA1):c.1127C>T (p.Ala376Val)
NM_002775.5(HTRA1):c.138C>A (p.Cys46Ter) rs1394472516
NM_002775.5(HTRA1):c.175_178del (p.Arg59fs)
NM_002775.5(HTRA1):c.283G>T (p.Val95Leu) rs2133905276
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.497G>T (p.Arg166Leu) rs864622781
NM_002775.5(HTRA1):c.517G>C (p.Ala173Pro) rs781563777
NM_002775.5(HTRA1):c.536T>A (p.Ile179Asn) rs1554950655
NM_002775.5(HTRA1):c.543del (p.Ala182fs) rs1273355332
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.852C>A (p.Ser284Arg) rs864622782
NM_002775.5(HTRA1):c.857T>C (p.Phe286Ser)
NM_002775.5(HTRA1):c.865C>T (p.Gln289Ter) rs1554952291
NM_002775.5(HTRA1):c.905G>A (p.Arg302Gln) rs2133449474
NM_002775.5(HTRA1):c.910G>C (p.Gly304Arg)
NM_002775.5(HTRA1):c.971A>C (p.Asn324Thr) rs1267457680
NM_002775.5(HTRA1):c.972+1G>C rs1432594571
NM_002775.5(HTRA1):c.973-1G>A rs864622783
NM_002775.5(HTRA1):c.983C>T (p.Ser328Leu) rs2133449911

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