ClinVar Miner

List of variants studied for Legius syndrome by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_152594.3(SPRED1):c.291G>A (p.Lys97=) rs7182445 0.82029
NM_152594.3(SPRED1):c.424-8C>A rs7180446 0.82015
NM_152594.3(SPRED1):c.1044T>C (p.Val348=) rs3751526 0.81965
NM_152594.3(SPRED1):c.*4662T>A rs10852019 0.77666
NM_152594.3(SPRED1):c.*5110C>T rs8026118 0.76725
NM_152594.3(SPRED1):c.*3830G>A rs8039150 0.22628
NM_152594.3(SPRED1):c.*4932A>G rs16966843 0.20289
NM_152594.3(SPRED1):c.*2831G>A rs35490364 0.19653
NM_152594.3(SPRED1):c.*3521A>G rs11634702 0.11111
NM_152594.3(SPRED1):c.*1724A>C rs1554527 0.08749
NM_152594.3(SPRED1):c.*3996G>A rs72725364 0.08710
NM_152594.3(SPRED1):c.*248T>C rs16966842 0.04503
NM_152594.3(SPRED1):c.*256C>T rs145373657 0.01162
NM_152594.3(SPRED1):c.*2885G>A rs79309779 0.01137
NM_152594.3(SPRED1):c.*3057A>G rs72725362 0.01095
NM_152594.3(SPRED1):c.*3698T>G rs76527876 0.00908
NM_152594.3(SPRED1):c.-93C>T rs192699510 0.00724
NM_152594.3(SPRED1):c.-244T>C rs138385793 0.00693
NM_152594.3(SPRED1):c.583-7A>G rs115970207 0.00630
NM_152594.3(SPRED1):c.*427A>T rs185290497 0.00592
NM_152594.3(SPRED1):c.*3591C>T rs147489619 0.00529
NM_152594.3(SPRED1):c.*1040G>A rs115568221 0.00445
NM_152594.3(SPRED1):c.*2570T>C rs111997668 0.00401
NM_152594.3(SPRED1):c.*3623G>T rs148525432 0.00348
NM_152594.3(SPRED1):c.*2742G>T rs149336440 0.00260
NM_152594.3(SPRED1):c.*5398G>T rs115003524 0.00257
NM_152594.3(SPRED1):c.*3561G>A rs181980647 0.00234
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00204
NM_152594.3(SPRED1):c.*4372A>G rs187788660 0.00113
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225 0.00092
NM_152594.3(SPRED1):c.-191C>T rs556907443 0.00088
NM_152594.3(SPRED1):c.*3745A>G rs142928983 0.00080
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met) rs138553244 0.00074
NM_152594.3(SPRED1):c.*4471C>A rs574232846 0.00071
NM_152594.3(SPRED1):c.*4472C>A rs541556786 0.00071
NM_152594.3(SPRED1):c.939G>A (p.Thr313=) rs140644874 0.00070
NM_152594.3(SPRED1):c.*3192G>A rs566065329 0.00064
NM_152594.3(SPRED1):c.-201G>A rs770231868 0.00061
NM_152594.3(SPRED1):c.*2359G>C rs886051112 0.00045
NM_152594.3(SPRED1):c.-309C>T rs578173447 0.00043
NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys) rs201692618 0.00042
NM_152594.3(SPRED1):c.*633A>G rs118146919 0.00037
NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu) rs115440602 0.00029
NM_152594.3(SPRED1):c.*565A>C rs866578422 0.00023
NM_152594.3(SPRED1):c.*105A>G rs545295358 0.00022
NM_152594.3(SPRED1):c.*5540A>G rs551994427 0.00020
NM_152594.3(SPRED1):c.*4304G>A rs537477031 0.00017
NM_152594.3(SPRED1):c.*2018T>G rs188392935 0.00016
NM_152594.3(SPRED1):c.*2247A>G rs118057877 0.00016
NM_152594.3(SPRED1):c.*4822A>G rs576136057 0.00016
NM_152594.3(SPRED1):c.*3543C>T rs1007271242 0.00015
NM_152594.3(SPRED1):c.*1747A>C rs561525888 0.00013
NM_152594.3(SPRED1):c.963G>A (p.Lys321=) rs369711772 0.00011
NM_152594.3(SPRED1):c.*1897C>T rs776375597 0.00010
NM_152594.3(SPRED1):c.*3657C>T rs761527047 0.00010
NM_152594.3(SPRED1):c.*3289C>T rs867439626 0.00009
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile) rs147474792 0.00008
NM_152594.3(SPRED1):c.*1563C>T rs886051110 0.00006
NM_152594.3(SPRED1):c.*3584G>A rs886051117 0.00006
NM_152594.3(SPRED1):c.*4697G>A rs188784206 0.00006
NM_152594.3(SPRED1):c.*5418A>G rs547680341 0.00006
NM_152594.3(SPRED1):c.-24A>G rs755230054 0.00005
NM_152594.3(SPRED1):c.*2117A>G rs1037098024 0.00004
NM_152594.3(SPRED1):c.*2853A>G rs187134665 0.00003
NM_152594.3(SPRED1):c.*4046G>A rs886051118 0.00003
NM_152594.3(SPRED1):c.371C>T (p.Ser124Phe) rs760132893 0.00003
NM_152594.3(SPRED1):c.*2398T>G rs1276005784 0.00002
NM_152594.3(SPRED1):c.*3323C>T rs547019744 0.00002
NM_152594.3(SPRED1):c.*3340G>A rs571542327 0.00002
NM_152594.3(SPRED1):c.*3544G>A rs886051116 0.00002
NM_152594.3(SPRED1):c.*3659A>G rs1015221980 0.00002
NM_152594.3(SPRED1):c.*4725A>G rs530058944 0.00002
NM_152594.3(SPRED1):c.*810A>G rs886051108 0.00002
NM_152594.3(SPRED1):c.1000C>T (p.Arg334Cys) rs765603808 0.00002
NM_152594.3(SPRED1):c.*1337A>C rs570038934 0.00001
NM_152594.3(SPRED1):c.*149G>A rs776485386 0.00001
NM_152594.3(SPRED1):c.*1727G>T rs1296705457 0.00001
NM_152594.3(SPRED1):c.*2251G>A rs1045444732 0.00001
NM_152594.3(SPRED1):c.*2444T>A rs1355715078 0.00001
NM_152594.3(SPRED1):c.*2990T>C rs1888571276 0.00001
NM_152594.3(SPRED1):c.*4744G>T rs886051120 0.00001
NM_152594.3(SPRED1):c.*5202C>T rs541213700 0.00001
NM_152594.3(SPRED1):c.*936C>A rs1888514694 0.00001
NM_152594.3(SPRED1):c.1085G>A (p.Cys362Tyr) rs1255579349 0.00001
NM_152594.3(SPRED1):c.170A>G (p.Asp57Gly) rs959758606 0.00001
NM_152594.3(SPRED1):c.564G>A (p.Met188Ile) rs202092705 0.00001
NM_152594.3(SPRED1):c.707A>G (p.His236Arg) rs886051104 0.00001
NM_152594.3(SPRED1):c.*1095A>G rs1888519746
NM_152594.3(SPRED1):c.*1400G>A rs886051109
NM_152594.3(SPRED1):c.*1659_*1662del rs57589132
NM_152594.3(SPRED1):c.*1798A>C rs886051111
NM_152594.3(SPRED1):c.*1833A>C rs1225083790
NM_152594.3(SPRED1):c.*1967C>T rs977825563
NM_152594.3(SPRED1):c.*2323T>C rs1397459578
NM_152594.3(SPRED1):c.*2414del rs532033889
NM_152594.3(SPRED1):c.*2420T>C rs184024152
NM_152594.3(SPRED1):c.*2422A>G rs1888552362
NM_152594.3(SPRED1):c.*2506_*2513del rs770258605
NM_152594.3(SPRED1):c.*2539A>T rs970641083
NM_152594.3(SPRED1):c.*2611C>T rs181716461
NM_152594.3(SPRED1):c.*2843A>C rs886051115
NM_152594.3(SPRED1):c.*3395G>A rs140749542
NM_152594.3(SPRED1):c.*3536C>G rs889076008
NM_152594.3(SPRED1):c.*3647T>G rs186366365
NM_152594.3(SPRED1):c.*3701A>G rs574179000
NM_152594.3(SPRED1):c.*3705A>G rs888994607
NM_152594.3(SPRED1):c.*383G>A rs1888501738
NM_152594.3(SPRED1):c.*3946G>A rs8039337
NM_152594.3(SPRED1):c.*4136ATT[1] rs369376164
NM_152594.3(SPRED1):c.*4781C>A rs886051121
NM_152594.3(SPRED1):c.*4948AT[1] rs886051122
NM_152594.3(SPRED1):c.*4987A>C rs886051123
NM_152594.3(SPRED1):c.*5090dup rs141174183
NM_152594.3(SPRED1):c.*5232G>A rs886051124
NM_152594.3(SPRED1):c.*5263C>A rs78521927
NM_152594.3(SPRED1):c.*5346A>C rs886051125
NM_152594.3(SPRED1):c.*5440T>C rs917966244
NM_152594.3(SPRED1):c.*5449A>G rs1888638409
NM_152594.3(SPRED1):c.*578AT[11] rs147547509
NM_152594.3(SPRED1):c.*578AT[12] rs147547509
NM_152594.3(SPRED1):c.*578AT[13] rs147547509
NM_152594.3(SPRED1):c.*578AT[8] rs147547509
NM_152594.3(SPRED1):c.*581T>C rs541503324
NM_152594.3(SPRED1):c.*632C>T rs1888507927
NM_152594.3(SPRED1):c.-114G>A rs1489810093
NM_152594.3(SPRED1):c.-152C>A rs886051102
NM_152594.3(SPRED1):c.-156del rs531519324
NM_152594.3(SPRED1):c.-175G>T rs1312214893
NM_152594.3(SPRED1):c.-294C>T rs886051100
NM_152594.3(SPRED1):c.-87C>T rs886051103
NM_152594.3(SPRED1):c.1098T>G (p.Val366=) rs1888486382
NM_152594.3(SPRED1):c.197G>C (p.Arg66Thr) rs1895112263
NM_152594.3(SPRED1):c.565C>A (p.Gln189Lys) rs200142785
NM_152594.3(SPRED1):c.881A>T (p.Tyr294Phe) rs886051105
NM_152594.3(SPRED1):c.973C>G (p.Arg325Gly) rs1057518683

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