ClinVar Miner

List of variants in gene ITGB3 studied for autosomal dominant macrothrombocytopenia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000212.3(ITGB3):c.1960G>A (p.Glu654Lys) rs70940817 0.00017
NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln) rs121918444 0.00001
NM_000212.3(ITGB3):c.1699C>T (p.Gln567Ter) rs1057518837
NM_000212.3(ITGB3):c.709_710del (p.Ser237fs) rs746626039
NM_000212.3(ITGB3):c.749A>G (p.Asp250Gly) rs1057518838
NM_000212.3(ITGB3):c.992A>G (p.Asn331Ser) rs2143105853

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