ClinVar Miner

List of variants in gene ITGB3, LOC130061044 studied for hematologic disorder

Included ClinVar conditions (819):
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.777+1G>A rs745766760 0.00001
NM_000212.3(ITGB3):c.756del (p.Met253fs) rs2143097158
NM_000212.3(ITGB3):c.760C>A (p.Gln254Lys) rs2065102917
NM_000212.3(ITGB3):c.761A>G (p.Gln254Arg) rs1598690979
NM_000212.3(ITGB3):c.774T>A (p.Cys258Ter) rs2143097219
NM_000212.3(ITGB3):c.774_775del (p.Cys258_Asp259delinsTer) rs2065103002

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