ClinVar Miner

List of variants studied for Cerebral arteriovenous malformation by Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_017563.5(IL17RD):c.676G>A (p.Gly226Ser) rs577890523 0.00006
NM_001395002.1(MAP4K4):c.1694G>A (p.Arg565Gln) rs781410462 0.00002
NM_024870.4(PREX2):c.3355G>A (p.Ala1119Thr) rs778089198 0.00001
NM_000362.5(TIMP3):c.311T>C (p.Leu104Pro) rs1555985260
NM_001114753.3(ENG):c.920dup (p.Asn307fs) rs1554810174
NM_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr) rs1554047435
NM_001367977.2(SCUBE2):c.2057G>A (p.Cys686Tyr) rs1555238867
NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser) rs1555630396
NM_005228.5(EGFR):c.1881-858G>T rs909905659
NM_006513.4(SARS1):c.971T>C (p.Ile324Thr) rs1553178399
NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser) rs1555196298
NM_031220.4(PITPNM3):c.274C>T (p.Arg92Ter) rs1555556099

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