ClinVar Miner

List of variants in gene combination C10orf55, PLAU reported as uncertain significance for Quebec platelet disorder

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_002658.6(PLAU):c.*900A>G rs886047213 0.00016
NM_002658.6(PLAU):c.*753C>T rs545559536 0.00010
NM_002658.6(PLAU):c.*921T>C rs868098697 0.00007
NM_002658.6(PLAU):c.*917G>A rs879420957 0.00005
NM_002658.6(PLAU):c.*631C>T rs886047210 0.00004
NM_002658.6(PLAU):c.845G>A (p.Arg282His) rs34930250 0.00004
NM_002658.4(PLAU):c.*935A>G rs886047214 0.00001
NM_002658.6(PLAU):c.*309T>C rs1026194457 0.00001
NM_002658.6(PLAU):c.*474G>A rs184153523 0.00001
NM_002658.6(PLAU):c.*880T>A rs886047212 0.00001
NM_002658.6(PLAU):c.1229C>T (p.Thr410Met) rs764252595 0.00001
NM_002658.6(PLAU):c.143T>A (p.Ile48Asn) rs764051398 0.00001
NM_002658.6(PLAU):c.194A>G (p.Asp65Gly) rs183208966 0.00001
NM_002658.6(PLAU):c.*176G>T rs886047209
NM_002658.6(PLAU):c.*3G>A rs886047208
NM_002658.6(PLAU):c.*538G>A rs185856064
NM_002658.6(PLAU):c.*688C>T rs886047211

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