ClinVar Miner

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

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NC_000021.8:g.(?_36164432)_(36421257_?)del
NC_000021.9:g.(?_35048832)_(35049298_?)del
NM_001754.5(RUNX1):c.1003C>T (p.Gln335Ter) rs1569002881
NM_001754.5(RUNX1):c.1088_1094del (p.Gly363fs) rs2056458051
NM_001754.5(RUNX1):c.1198_1201dup (p.Pro401fs) rs1569002159
NM_001754.5(RUNX1):c.1208_1214del (p.Tyr403fs)
NM_001754.5(RUNX1):c.1216del (p.Tyr406fs) rs2056453972
NM_001754.5(RUNX1):c.1219_1221delinsGGGATCGTTCGGA (p.Tyr407fs) rs2145875208
NM_001754.5(RUNX1):c.1228_1231dup (p.Ala411fs) rs1569002077
NM_001754.5(RUNX1):c.1242C>G (p.Tyr414Ter) rs2056452818
NM_001754.5(RUNX1):c.1256_1262dup (p.Glu422fs)
NM_001754.5(RUNX1):c.1263_1264insTCCCTCCTACCACCTGTACTACGGCGCCTCGGCCGGCTCCTACCAGTTCTCCATGGTGGGCGGC (p.Glu422fs) rs1569001972
NM_001754.5(RUNX1):c.1363del (p.Ala455fs)
NM_001754.5(RUNX1):c.1412_1413del (p.Arg471fs) rs1555884790
NM_001754.5(RUNX1):c.159del (p.Ser53fs) rs1569084646
NM_001754.5(RUNX1):c.253_254insGGGG (p.His85fs) rs2146410489
NM_001754.5(RUNX1):c.315C>A (p.His105Gln) rs1601528621
NM_001754.5(RUNX1):c.319C>T (p.Arg107Cys) rs2057998063
NM_001754.5(RUNX1):c.320G>A (p.Arg107His) rs1569084106
NM_001754.5(RUNX1):c.330G>C (p.Lys110Asn) rs1569084082
NM_001754.5(RUNX1):c.330G>T (p.Lys110Asn) rs1569084082
NM_001754.5(RUNX1):c.339del (p.Ile114fs) rs1569084032
NM_001754.5(RUNX1):c.351+2T>A rs2057997150
NM_001754.5(RUNX1):c.424dup (p.Ala142fs) rs1569079076
NM_001754.5(RUNX1):c.484A>G (p.Arg162Gly) rs1057519751
NM_001754.5(RUNX1):c.485G>A (p.Arg162Lys) rs1057519750
NM_001754.5(RUNX1):c.486G>C (p.Arg162Ser) rs1057519749
NM_001754.5(RUNX1):c.486G>T (p.Arg162Ser) rs1057519749
NM_001754.5(RUNX1):c.502G>T (p.Gly168Ter) rs1569078784
NM_001754.5(RUNX1):c.504_508dup (p.Gly170fs) rs1569078774
NM_001754.5(RUNX1):c.508+1G>T rs1601515718
NM_001754.5(RUNX1):c.508+2T>C rs1601515707
NM_001754.5(RUNX1):c.582A>C (p.Lys194Asn) rs1569061799
NM_001754.5(RUNX1):c.586A>G (p.Thr196Ala) rs2057541324
NM_001754.5(RUNX1):c.592G>T (p.Asp198Tyr)
NM_001754.5(RUNX1):c.593A>C (p.Asp198Ala) rs1569061786
NM_001754.5(RUNX1):c.610C>G (p.Arg204Gly)
NM_001754.5(RUNX1):c.622C>T (p.Gln208Ter) rs1601416036
NM_001754.5(RUNX1):c.782dup (p.Gln262fs)
NM_001754.5(RUNX1):c.799_800dup (p.Met267fs)
NM_001754.5(RUNX1):c.813del (p.Arg271fs) rs2145910106
NM_001754.5(RUNX1):c.820del (p.Gln274fs) rs1569009004
NM_001754.5(RUNX1):c.968del (p.Thr323fs)
NM_001754.5(RUNX1):c.979_983dup (p.Thr328_Ala329insTer)
NM_001754.5(RUNX1):c.98-2A>G

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