ClinVar Miner

List of variants in gene C10orf55, PLAU studied for alpha granule disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP
NM_001145031.2(PLAU):c.*935A>G rs886047214
NM_002658.5(PLAU):c.*141C>T rs4065
NM_002658.5(PLAU):c.*176G>T rs886047209
NM_002658.5(PLAU):c.*266T>C rs565576288
NM_002658.5(PLAU):c.*335G>A rs185909762
NM_002658.5(PLAU):c.*355C>T rs140559980
NM_002658.5(PLAU):c.*398C>T rs190769030
NM_002658.5(PLAU):c.*3G>A rs886047208
NM_002658.5(PLAU):c.*444T>A rs145634997
NM_002658.5(PLAU):c.*520G>T rs117134857
NM_002658.5(PLAU):c.*52T>A rs560674195
NM_002658.5(PLAU):c.*60A>C rs142117323
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.*844del rs2227574
NM_002658.5(PLAU):c.*880T>A rs886047212
NM_002658.5(PLAU):c.*900A>G rs886047213
NM_002658.5(PLAU):c.-18C>A rs2227555
NM_002658.5(PLAU):c.-20A>G rs201591610
NM_002658.5(PLAU):c.-25C>T rs2227579
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.1048T>C (p.Tyr350His) rs72816325
NM_002658.5(PLAU):c.1053C>T (p.Tyr351=) rs558920700
NM_002658.5(PLAU):c.1092C>T (p.Asp364=) rs148333167
NM_002658.5(PLAU):c.111A>G (p.Gly37=) rs200927138
NM_002658.5(PLAU):c.1222G>A (p.Val408Ile) rs200165551
NM_002658.5(PLAU):c.162A>G (p.Pro54=) rs142059320
NM_002658.5(PLAU):c.163A>G (p.Lys55Glu) rs147372618
NM_002658.5(PLAU):c.172G>A (p.Gly58Arg) rs55744193
NM_002658.5(PLAU):c.17C>A (p.Ala6Glu) rs371106595
NM_002658.5(PLAU):c.236G>A (p.Arg79Gln) rs201299522
NM_002658.5(PLAU):c.308C>T (p.Thr103Met) rs370278611
NM_002658.5(PLAU):c.316G>C (p.Ala106Pro) rs886047206
NM_002658.5(PLAU):c.368+6G>C rs186447765
NM_002658.5(PLAU):c.43G>T (p.Val15Leu) rs2227580
NM_002658.5(PLAU):c.57+6T>C rs770181188
NM_002658.5(PLAU):c.581C>A (p.Ala194Glu) rs145865648
NM_002658.5(PLAU):c.581C>T (p.Ala194Val) rs145865648
NM_002658.5(PLAU):c.602G>T (p.Arg201Leu) rs549461157
NM_002658.5(PLAU):c.681-7C>T rs2227566
NM_002658.5(PLAU):c.691A>C (p.Lys231Gln) rs2227567
NM_002658.5(PLAU):c.706A>G (p.Ile236Val) rs150389556
NM_002658.5(PLAU):c.750G>C (p.Gly250=) rs886047207
NM_002658.5(PLAU):c.822C>T (p.Asn274=) rs2227568
NM_002658.5(PLAU):c.878G>A (p.Arg293Gln) rs546931331
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.1193G>T (p.Arg398Leu)
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.236G>C (p.Arg79Pro)
NM_002658.6(PLAU):c.445C>T (p.His149Tyr)
NM_002658.6(PLAU):c.453C>T (p.Cys151=)
NM_002658.6(PLAU):c.559A>G (p.Ile187Val)
NM_002658.6(PLAU):c.735C>A (p.Asn245Lys)
NM_002658.6(PLAU):c.830-13T>C
NM_002658.6(PLAU):c.845G>A (p.Arg282His)
NM_002658.6(PLAU):c.972C>T (p.Thr324=)

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