ClinVar Miner

List of variants in gene ITGA2B studied for autosomal dominant macrothrombocytopenia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr) rs78165611 0.00065
NM_000419.5(ITGA2B):c.2198C>T (p.Ala733Val) rs201042087 0.00008
NM_000419.5(ITGA2B):c.2511G>C (p.Gln837His) rs377753373 0.00003
NM_000419.5(ITGA2B):c.1879-14A>G rs1186417459 0.00002
NM_000419.5(ITGA2B):c.641T>C (p.Leu214Pro) rs137852911 0.00002
NM_000419.5(ITGA2B):c.1043G>A (p.Arg348Gln) rs1060499614 0.00001
NM_000419.5(ITGA2B):c.1752+5G>A rs530915748 0.00001
NM_000419.5(ITGA2B):c.1772A>C (p.Asp591Ala) rs778608263 0.00001
NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro) rs74475415 0.00001
NM_000419.5(ITGA2B):c.2929C>T (p.Arg977Ter) rs79657230 0.00001
NM_000419.5(ITGA2B):c.1142C>T (p.Thr381Ile) rs2048614738
NM_000419.5(ITGA2B):c.1545-1G>A
NM_000419.5(ITGA2B):c.1558A>C (p.Met520Leu)
NM_000419.5(ITGA2B):c.1639C>T (p.Arg547Cys)
NM_000419.5(ITGA2B):c.1727G>C (p.Cys576Ser)
NM_000419.5(ITGA2B):c.1750C>T (p.Arg584Ter) rs137852906
NM_000419.5(ITGA2B):c.176A>G (p.Asp59Gly) rs2143506303
NM_000419.5(ITGA2B):c.2016C>T (p.Gly672=)
NM_000419.5(ITGA2B):c.2320C>T (p.Arg774Trp)
NM_000419.5(ITGA2B):c.2349-11G>A rs199682503
NM_000419.5(ITGA2B):c.2384AAG[1] (p.Glu796del)
NM_000419.5(ITGA2B):c.2521T>C (p.Ser841Pro)
NM_000419.5(ITGA2B):c.2841+13G>A
NM_000419.5(ITGA2B):c.291del (p.Ser98fs) rs2048645725
NM_000419.5(ITGA2B):c.2935G>T (p.Glu979Ter)
NM_000419.5(ITGA2B):c.2982del (p.Ile995fs) rs2143427606
NM_000419.5(ITGA2B):c.3020G>T (p.Gly1007Val) rs2143427279
NM_000419.5(ITGA2B):c.3070T>A (p.Phe1024Ile)
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_000419.5(ITGA2B):c.3077G>A (p.Arg1026Gln) rs879255514
NM_000419.5(ITGA2B):c.3092_3093dup (p.Glu1032fs) rs2048504826
NM_000419.5(ITGA2B):c.3092del (p.Leu1031fs) rs2143417444
NM_000419.5(ITGA2B):c.517G>T (p.Glu173Ter)
NM_000419.5(ITGA2B):c.580G>A (p.Asp194Asn) rs1477253720
NM_000419.5(ITGA2B):c.590A>G (p.Tyr197Cys) rs2143486113
NM_000419.5(ITGA2B):c.879G>A (p.Trp293Ter)
NM_000419.5(ITGA2B):c.891+12del rs373578804

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