ClinVar Miner

List of variants reported as likely pathogenic for Thrombocytopenia

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Total variants: 51
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HGVS dbSNP
NC_000021.8:g.35304341_36865875del
NC_000021.8:g.35304355_36865958del
NC_000021.8:g.36318516_37184936del
NM_000173.7(GP1BA):c.344T>C (p.Leu115Pro) rs1597638598
NM_000173.7(GP1BA):c.407T>C (p.Leu136Pro) rs1597638681
NM_000173.7(GP1BA):c.449A>G (p.Asn150Ser) rs1597638745
NM_000173.7(GP1BA):c.470dup (p.Gly158fs) rs1597638753
NM_000173.7(GP1BA):c.745G>A (p.Gly249Ser) rs1597639057
NM_000173.7(GP1BA):c.763A>G (p.Met255Val) rs121908064
NM_000174.4(GP9):c.182A>G (p.Asn61Ser) rs5030764
NM_000407.4(GP1BB):c.137G>A (p.Trp46Ter) rs121909752
NM_000407.4(GP1BB):c.236_244del (p.Pro79_Leu81del) rs1601248578
NM_000407.4(GP1BB):c.395T>A (p.Leu132Gln) rs1601248859
NM_000407.4(GP1BB):c.448del (p.Ala150fs) rs1360071443
NM_000407.4(GP1BB):c.47T>C (p.Leu16Pro) rs1601248210
NM_001102.4(ACTN1):c.1592A>T (p.Asp531Val) rs1594758046
NM_001102.4(ACTN1):c.1592_1593insGGGGCCATGGAG (p.Asp531delinsGluGlyProTrpSer) rs1594758038
NM_001102.4(ACTN1):c.770C>G (p.Thr257Arg) rs1594773549
NM_001754.4(RUNX1):c.578T>A (p.Ile193Asn) rs1601470652
NM_001754.4(RUNX1):c.593A>T (p.Asp198Val) rs1569061786
NM_001754.4(RUNX1):c.610C>T (p.Arg204Ter) rs1569061768
NM_001754.4(RUNX1):c.611G>A (p.Arg204Gln) rs1569061762
NM_001754.4(RUNX1):c.861C>G (p.Tyr287Ter) rs121912499
NM_001754.4(RUNX1):c.958C>T (p.Arg320Ter) rs1569008655
NM_001754.5(RUNX1):c.1164del (p.Ser389fs) rs1601333051
NM_001754.5(RUNX1):c.320G>A (p.Arg107His) rs1569084106
NM_001754.5(RUNX1):c.508+1G>A rs1601515718
NM_001987.4(ETV6):c.1105C>T (p.Arg369Trp) rs1591749480
NM_001987.5(ETV6):c.1201T>C (p.Tyr401His) rs1591750551
NM_002017.5(FLI1):c.992_995del (p.Asn331fs) rs1064797085
NM_002049.3(GATA1):c.1240T>C (p.Ter414Arg) rs587776456
NM_002049.3(GATA1):c.653A>G (p.Asp218Gly) rs104894816
NM_004991.4(MECOM):c.1678C>T (p.Gln560Ter) rs1577005203
NM_005373.2(MPL):c.263G>A (p.Gly88Glu) rs587778516
NM_005373.3(MPL):c.79+2T>A rs146249964
NM_005476.7(GNE):c.1457T>C (p.Leu486Pro) rs774867424
NM_005476.7(GNE):c.466T>C (p.Tyr156His) rs794727505
NM_014915.2(ANKRD26):c.-116C>G rs1589393739
NM_014915.2(ANKRD26):c.-118C>G rs1589393759
NM_014915.2(ANKRD26):c.-118C>T rs1589393759
NM_014915.2(ANKRD26):c.-119C>G rs1554800065
NM_014915.2(ANKRD26):c.-127A>T rs1589393799
NM_014915.2(ANKRD26):c.-128G>C rs1589393809
NM_014915.2(ANKRD26):c.-134G>A rs863223318
NM_014915.3(ANKRD26):c.-118C>A rs1589393759
NM_014915.3(ANKRD26):c.-128G>T rs1589393809
NM_018947.5(CYCS):c.124G>A (p.Gly42Ser) rs121918552
NM_018947.6(CYCS):c.295C>G (p.Leu99Val) rs1583394629
NM_030773.3(TUBB1):c.326G>A (p.Gly109Glu) rs41303899
NM_030773.3(TUBB1):c.945C>A (p.Cys315Ter) rs1601239459
Single allele

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