ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_001145031.2(PLAU):c.*935A>G rs886047214
NM_002658.5(PLAU):c.*176G>T rs886047209
NM_002658.5(PLAU):c.*3G>A rs886047208
NM_002658.5(PLAU):c.*631C>T rs886047210
NM_002658.5(PLAU):c.*688C>T rs886047211
NM_002658.5(PLAU):c.*753C>T rs545559536
NM_002658.5(PLAU):c.*880T>A rs886047212
NM_002658.5(PLAU):c.*900A>G rs886047213
NM_002658.5(PLAU):c.-32+9C>G rs538342269
NM_002658.5(PLAU):c.-32G>A rs886047205
NM_002658.5(PLAU):c.-41G>A rs886047204
NM_002658.5(PLAU):c.316G>C (p.Ala106Pro) rs886047206
NM_002658.5(PLAU):c.368+6G>C rs186447765
NM_002658.5(PLAU):c.581C>A (p.Ala194Glu) rs145865648
NM_002658.5(PLAU):c.750G>C (p.Gly250=) rs886047207
NM_002658.6(PLAU):c.*309T>C
NM_002658.6(PLAU):c.*474G>A
NM_002658.6(PLAU):c.*538G>A
NM_002658.6(PLAU):c.*917G>A
NM_002658.6(PLAU):c.*921T>C
NM_002658.6(PLAU):c.1229C>T (p.Thr410Met)
NM_002658.6(PLAU):c.143T>A (p.Ile48Asn)
NM_002658.6(PLAU):c.194A>G (p.Asp65Gly)
NM_002658.6(PLAU):c.735C>A (p.Asn245Lys)
NM_002658.6(PLAU):c.845G>A (p.Arg282His)

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