ClinVar Miner

List of variants in gene ITGA2 reported as likely benign for blood platelet disease

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_002203.4(ITGA2):c.1096+11dup rs570925083 0.00851
NM_002203.4(ITGA2):c.*1641C>G rs10076541 0.00494
NM_002203.4(ITGA2):c.*1921G>T rs9292006 0.00470
NM_002203.4(ITGA2):c.*3331A>G rs140380471 0.00101
NM_002203.4(ITGA2):c.2780A>G (p.Asn927Ser) rs2287870 0.00096
NM_002203.4(ITGA2):c.2241C>T (p.Pro747=) rs41366951 0.00091
NM_002203.4(ITGA2):c.*3028G>A rs547012254 0.00026
NM_002203.4(ITGA2):c.1789C>T (p.Arg597Cys) rs146370217 0.00011
NM_002203.4(ITGA2):c.780-11A>T rs202058704 0.00011
NM_002203.4(ITGA2):c.2503A>G (p.Ser835Gly) rs773985586 0.00010
NM_002203.4(ITGA2):c.2485C>G (p.Leu829Val) rs41441846 0.00008
NM_002203.4(ITGA2):c.1189G>A (p.Gly397Ser) rs767342253 0.00006
NM_002203.4(ITGA2):c.1594A>C (p.Ile532Leu) rs199808499 0.00003
NM_002203.4(ITGA2):c.2608T>C (p.Ser870Pro) rs148313613 0.00002
NM_002203.4(ITGA2):c.1176T>C (p.Asp392=) rs144998443 0.00001
NM_002203.4(ITGA2):c.1524G>A (p.Val508=) rs757932706 0.00001
NM_002203.4(ITGA2):c.2434C>A (p.Gln812Lys) rs761499417 0.00001
NM_002203.4(ITGA2):c.2571+15C>G rs534251174 0.00001
NM_002203.4(ITGA2):c.*1818_*1819insTTGGC rs543100435
NM_002203.4(ITGA2):c.*236del rs3212647
NM_002203.4(ITGA2):c.*3308_*3310del rs139102895
NM_002203.4(ITGA2):c.*4006_*4010del rs528320695
NM_002203.4(ITGA2):c.*4045_*4051del rs143236463
NM_002203.4(ITGA2):c.*95dup rs202180218

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