ClinVar Miner

List of variants reported as likely pathogenic for cardiovascular organ benign neoplasm by Beijing Key Laboratory for Genetic Research of Skeletal Deformity,Peking Union Medical College Hospital

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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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_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr) rs1554047435
NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser) rs1555630396
NM_005228.5(EGFR):c.1881-858G>T rs909905659
NM_017563.5(IL17RD):c.676G>A (p.Gly226Ser) rs577890523
NM_024870.4(PREX2):c.3355G>A (p.Ala1119Thr) rs778089198

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