ClinVar Miner

List of variants studied for CARASIL

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_002775.4(HTRA1):c.102C>T (p.Ala34=) rs1049331
NM_002775.4(HTRA1):c.108G>C (p.Gly36=) rs2293870
NM_002775.4(HTRA1):c.108G>T (p.Gly36=) rs2293870
NM_002775.4(HTRA1):c.1091T>C (p.Leu364Pro) rs587776447
NM_002775.4(HTRA1):c.1108C>T (p.Arg370Ter) rs113993971
NM_002775.4(HTRA1):c.126delG rs587776448
NM_002775.4(HTRA1):c.59C>T (p.Ala20Val) rs369149111
NM_002775.4(HTRA1):c.614C>G (p.Ser205Cys) rs1554950703
NM_002775.4(HTRA1):c.754G>A (p.Ala252Thr) rs113993968
NM_002775.4(HTRA1):c.821G>A (p.Arg274Gln) rs587776445
NM_002775.4(HTRA1):c.854C>T (p.Pro285Leu) rs587776446
NM_002775.4(HTRA1):c.883G>A (p.Gly295Arg) rs587776873
NM_002775.4(HTRA1):c.889G>A (p.Val297Met) rs113993969
NM_002775.4(HTRA1):c.904C>T (p.Arg302Ter) rs113993970
NM_002775.4(HTRA1):c.961G>A rs587776449
NM_002775.4(HTRA1):c.[126delG];[961G>A]

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