ClinVar Miner

List of variants studied for Quebec platelet disorder by Illumina Laboratory Services, Illumina

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_002658.6(PLAU):c.*141C>T rs4065 0.51476
NM_002658.6(PLAU):c.*844del rs2227574 0.50929
NM_002658.6(PLAU):c.681-7C>T rs2227566 0.50640
NM_002658.6(PLAU):c.822C>T (p.Asn274=) rs2227568 0.12381
NM_002658.6(PLAU):c.691A>C (p.Lys231Gln) rs2227567 0.04766
NM_002658.6(PLAU):c.-18C>A rs2227555 0.00948
NM_002658.6(PLAU):c.-25C>T rs2227579 0.00551
NM_002658.6(PLAU):c.172G>A (p.Gly58Arg) rs55744193 0.00504
NM_002658.6(PLAU):c.1092C>T (p.Asp364=) rs148333167 0.00419
NM_002658.6(PLAU):c.*444T>A rs145634997 0.00312
NM_002658.6(PLAU):c.-20A>G rs201591610 0.00241
NM_002658.6(PLAU):c.*60A>C rs142117323 0.00177
NM_002658.6(PLAU):c.162A>G (p.Pro54=) rs142059320 0.00165
NM_002658.6(PLAU):c.*520G>T rs117134857 0.00143
NM_002658.6(PLAU):c.445C>T (p.His149Tyr) rs117135013 0.00070
NM_002658.6(PLAU):c.878G>A (p.Arg293Gln) rs546931331 0.00068
NM_002658.6(PLAU):c.*355C>T rs140559980 0.00056
NM_002658.6(PLAU):c.*335G>A rs185909762 0.00038
NM_002658.6(PLAU):c.1222G>A (p.Val408Ile) rs200165551 0.00031
NM_002658.6(PLAU):c.236G>A (p.Arg79Gln) rs201299522 0.00022
NM_002658.6(PLAU):c.*900A>G rs886047213 0.00016
NM_002658.6(PLAU):c.453C>T (p.Cys151=) rs374267816 0.00014
NM_002658.6(PLAU):c.581C>T (p.Ala194Val) rs145865648 0.00011
NM_002658.6(PLAU):c.*753C>T rs545559536 0.00010
NM_002658.6(PLAU):c.-32+9C>G rs538342269 0.00010
NM_002658.6(PLAU):c.111A>G (p.Gly37=) rs200927138 0.00009
NM_002658.6(PLAU):c.*266T>C rs565576288 0.00008
NM_002658.6(PLAU):c.972C>T (p.Thr324=) rs375950656 0.00008
NM_002658.6(PLAU):c.*921T>C rs868098697 0.00007
NM_002658.6(PLAU):c.706A>G (p.Ile236Val) rs150389556 0.00006
NM_002658.6(PLAU):c.*917G>A rs879420957 0.00005
NM_002658.6(PLAU):c.*52T>A rs560674195 0.00004
NM_002658.6(PLAU):c.*631C>T rs886047210 0.00004
NM_002658.6(PLAU):c.308C>T (p.Thr103Met) rs370278611 0.00004
NM_002658.6(PLAU):c.845G>A (p.Arg282His) rs34930250 0.00004
NM_002658.6(PLAU):c.1053C>T (p.Tyr351=) rs558920700 0.00003
NM_002658.6(PLAU):c.1193G>T (p.Arg398Leu) rs3805118 0.00003
NM_002658.6(PLAU):c.163A>G (p.Lys55Glu) rs147372618 0.00003
NM_002658.6(PLAU):c.368+6G>C rs186447765 0.00003
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.-32G>A rs886047205 0.00001
NM_002658.6(PLAU):c.143T>A (p.Ile48Asn) rs764051398 0.00001
NM_002658.6(PLAU):c.17C>A (p.Ala6Glu) rs371106595 0.00001
NM_002658.6(PLAU):c.194A>G (p.Asp65Gly) rs183208966 0.00001
NM_002658.6(PLAU):c.57+6T>C rs770181188 0.00001
NM_002658.6(PLAU):c.602G>T (p.Arg201Leu) rs549461157 0.00001
NM_002658.6(PLAU):c.*176G>T rs886047209
NM_002658.6(PLAU):c.*398C>T rs190769030
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.-41G>A rs886047204
NM_002658.6(PLAU):c.1048T>C (p.Tyr350His) rs72816325
NM_002658.6(PLAU):c.236G>C (p.Arg79Pro) rs201299522
NM_002658.6(PLAU):c.316G>C (p.Ala106Pro) rs886047206
NM_002658.6(PLAU):c.43G>T (p.Val15Leu) rs2227580
NM_002658.6(PLAU):c.559A>G (p.Ile187Val) rs528761202
NM_002658.6(PLAU):c.581C>A (p.Ala194Glu) rs145865648
NM_002658.6(PLAU):c.735C>A (p.Asn245Lys) rs1249124159
NM_002658.6(PLAU):c.750G>C (p.Gly250=) rs886047207
NM_002658.6(PLAU):c.830-13T>C rs376665535

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