ClinVar Miner

List of variants in gene HTRA1 studied for CARASIL syndrome

Included ClinVar conditions (2):
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Total variants: 21
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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.1333G>A (p.Ala445Thr) rs371279115 0.00013
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.820C>T (p.Arg274Trp) rs748074236 0.00003
NM_002775.5(HTRA1):c.821G>A (p.Arg274Gln) rs587776445 0.00001
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.1091T>C (p.Leu364Pro) rs587776447
NM_002775.5(HTRA1):c.126del (p.Glu42fs) rs587776448
NM_002775.5(HTRA1):c.235C>T (p.Gln79Ter) rs2097481554
NM_002775.5(HTRA1):c.614C>G (p.Ser205Cys) rs1554950703
NM_002775.5(HTRA1):c.660C>G (p.His220Gln) rs1357930157
NM_002775.5(HTRA1):c.754G>A (p.Ala252Thr) rs113993968
NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu) rs587776446
NM_002775.5(HTRA1):c.883G>A (p.Gly295Arg) rs587776873
NM_002775.5(HTRA1):c.905G>A (p.Arg302Gln) rs2133449474

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