List of variants in gene combination C10orf55, PLAU reported as uncertain significance for alpha granule disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_002658.6(PLAU):c.*900A>G	rs886047213	0.00024
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
NM_002658.6(PLAU):c.983A>G (p.Tyr328Cys)

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