ClinVar Miner

List of variants reported as uncertain significance for Legius syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP
NM_152594.3(SPRED1):c.*1337A>C rs570038934
NM_152594.3(SPRED1):c.*1400G>A rs886051109
NM_152594.3(SPRED1):c.*149G>A rs776485386
NM_152594.3(SPRED1):c.*1563C>T rs886051110
NM_152594.3(SPRED1):c.*1747A>C rs561525888
NM_152594.3(SPRED1):c.*1798A>C rs886051111
NM_152594.3(SPRED1):c.*1897C>T rs776375597
NM_152594.3(SPRED1):c.*2359G>C rs886051112
NM_152594.3(SPRED1):c.*2414del rs532033889
NM_152594.3(SPRED1):c.*2506_*2513del rs770258605
NM_152594.3(SPRED1):c.*2570T>C rs111997668
NM_152594.3(SPRED1):c.*2843A>C rs886051115
NM_152594.3(SPRED1):c.*3192G>A rs566065329
NM_152594.3(SPRED1):c.*3544G>A rs886051116
NM_152594.3(SPRED1):c.*3584G>A rs886051117
NM_152594.3(SPRED1):c.*3647T>G rs186366365
NM_152594.3(SPRED1):c.*4046G>A rs886051118
NM_152594.3(SPRED1):c.*4136_*4138ATT[1] rs369376164
NM_152594.3(SPRED1):c.*4472C>A rs541556786
NM_152594.3(SPRED1):c.*4725A>G rs530058944
NM_152594.3(SPRED1):c.*4744G>T rs886051120
NM_152594.3(SPRED1):c.*4781C>A rs886051121
NM_152594.3(SPRED1):c.*4822A>G rs576136057
NM_152594.3(SPRED1):c.*4948_*4949AT[1] rs886051122
NM_152594.3(SPRED1):c.*4987A>C rs886051123
NM_152594.3(SPRED1):c.*5202C>T rs541213700
NM_152594.3(SPRED1):c.*5232G>A rs886051124
NM_152594.3(SPRED1):c.*5346A>C rs886051125
NM_152594.3(SPRED1):c.*565A>C rs866578422
NM_152594.3(SPRED1):c.*578_*579AT[11] rs147547509
NM_152594.3(SPRED1):c.*578_*579AT[12] rs147547509
NM_152594.3(SPRED1):c.*578_*579AT[13] rs147547509
NM_152594.3(SPRED1):c.*578_*579AT[8] rs147547509
NM_152594.3(SPRED1):c.*810A>G rs886051108
NM_152594.3(SPRED1):c.-152C>A rs886051102
NM_152594.3(SPRED1):c.-191C>T rs556907443
NM_152594.3(SPRED1):c.-201G>A rs770231868
NM_152594.3(SPRED1):c.-294C>T rs886051100
NM_152594.3(SPRED1):c.-309C>T rs578173447
NM_152594.3(SPRED1):c.-87C>T rs886051103
NM_152594.3(SPRED1):c.1000C>T (p.Arg334Cys) rs765603808
NM_152594.3(SPRED1):c.564G>A (p.Met188Ile) rs202092705
NM_152594.3(SPRED1):c.565C>A (p.Gln189Lys) rs200142785
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met) rs138553244
NM_152594.3(SPRED1):c.707A>G (p.His236Arg) rs886051104
NM_152594.3(SPRED1):c.881A>T (p.Tyr294Phe) rs886051105
NM_152594.3(SPRED1):c.963G>A (p.Lys321=) rs369711772

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