ClinVar Miner

List of variants reported as likely pathogenic for Abnormal bleeding; Thrombocytopenia

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Total variants: 28
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HGVS dbSNP
NM_000020.3(ACVRL1):c.653G>A (p.Arg218Gln)
NM_000081.4(LYST):c.4288C>T (p.Arg1430Ter)
NM_000132.4(F8):c.5441A>T (p.Asp1814Val)
NM_000157.4(GBA):c.26_27del (p.Glu9fs)
NM_000173.7(GP1BA):c.1274_1275del (p.Glu425fs)
NM_000173.7(GP1BA):c.413G>T (p.Gly138Val)
NM_000212.3(ITGB3):c.349C>T (p.Arg117Trp)
NM_000313.3(PROS1):c.284G>A (p.Gly95Glu) rs144526169
NM_000361.2(THBD):c.1611C>A (p.Cys537Ter) rs1600409143
NM_000361.3(THBD):c.752G>A (p.Gly251Asp)
NM_000504.4(F10):c.1325G>A (p.Gly442Asp)
NM_000552.4(VWF):c.2561G>A (p.Arg854Gln) rs41276738
NM_001129820.1(SLFN14):c.657A>T (p.Lys219Asn) rs869320715
NM_001129820.1(SLFN14):c.659T>A (p.Val220Asp) rs869320714
NM_001754.4(RUNX1):c.593A>T (p.Asp198Val) rs1569061786
NM_001754.4(RUNX1):c.611G>A (p.Arg204Gln) rs1569061762
NM_001754.5(RUNX1):c.1256T>G (p.Val419Gly)
NM_001754.5(RUNX1):c.1270T>C (p.Ser424Pro)
NM_001754.5(RUNX1):c.1270T>G (p.Ser424Ala)
NM_001754.5(RUNX1):c.403G>A (p.Gly135Ser)
NM_001754.5(RUNX1):c.586A>G (p.Thr196Ala)
NM_001987.5(ETV6):c.313C>T (p.Arg105Ter)
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_018947.6(CYCS):c.155C>T (p.Ala52Val)
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782
NM_022788.5(P2RY12):c.365G>A (p.Arg122His)
NM_030773.4(TUBB1):c.1080dup (p.Leu361fs)
NM_139279.6(MCFD2):c.364G>A (p.Asp122Asn)

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