ClinVar Miner

List of variants reported as likely pathogenic for Hereditary thrombocytopenia and hematologic cancer predisposition syndrome

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Total variants: 15
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HGVS dbSNP
NC_000021.9:g.(?_35048832)_(35049298_?)del
NM_001754.4(RUNX1):c.1003C>T (p.Gln335Ter) rs1569002881
NM_001754.4(RUNX1):c.1198_1201dup (p.Pro401fs) rs1569002159
NM_001754.4(RUNX1):c.1228_1231dup (p.Ala411fs) rs1569002077
NM_001754.4(RUNX1):c.1263_1264insTCCCTCCTACCACCTGTACTACGGCGCCTCGGCCGGCTCCTACCAGTTCTCCATGGTGGGCGGC (p.Glu422fs) rs1569001972
NM_001754.4(RUNX1):c.159del (p.Ser53fs) rs1569084646
NM_001754.4(RUNX1):c.315C>A (p.His105Gln) rs1601528621
NM_001754.4(RUNX1):c.424dup (p.Ala142fs) rs1569079076
NM_001754.4(RUNX1):c.484A>G (p.Arg162Gly) rs1057519751
NM_001754.4(RUNX1):c.485G>A (p.Arg162Lys) rs1057519750
NM_001754.4(RUNX1):c.486G>C (p.Arg162Ser) rs1057519749
NM_001754.4(RUNX1):c.486G>T (p.Arg162Ser) rs1057519749
NM_001754.4(RUNX1):c.504_508dup (p.Gly170fs) rs1569078774
NM_001754.4(RUNX1):c.508+2T>C rs1601515707
NM_001754.4(RUNX1):c.820del (p.Gln274fs) rs1569009004

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