ClinVar Miner

List of variants reported as likely pathogenic for Cerebral arteriovenous malformation

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Total variants: 8
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HGVS dbSNP
NM_000362.4(TIMP3):c.311T>C (p.Leu104Pro) rs1555985260
NM_001170690.2(SCUBE2):c.1592G>A (p.Cys531Tyr) rs1555238867
NM_001242559.2(MAP4K4):c.1694G>A (p.Arg565Gln) rs781410462
NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser) rs1555630396
NM_005228.5(EGFR):c.1881-858G>T rs909905659
NM_014733.6(ZFYVE16):c.3442G>T (p.Asp1148Tyr) rs1554047435
NM_017563.5(IL17RD):c.676G>A (p.Gly226Ser) rs577890523
NM_024870.4(PREX2):c.3355G>A (p.Ala1119Thr) rs778089198

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