ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 138
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HGVS dbSNP gnomAD frequency
NM_001375808.2(LPIN2):c.*438C>T rs150379164 0.00868
NM_001375808.2(LPIN2):c.*806C>T rs144349249 0.00316
NM_001375808.2(LPIN2):c.-10+1206A>T rs112648131 0.00272
NM_001375808.2(LPIN2):c.-10+1256G>A rs181504392 0.00215
NM_001375808.2(LPIN2):c.-10+1381T>C rs566304730 0.00176
NM_001375808.2(LPIN2):c.*100G>A rs564971189 0.00147
NM_001375808.2(LPIN2):c.*251C>T rs563023966 0.00131
NM_001375808.2(LPIN2):c.*903T>A rs78462116 0.00114
NM_001375808.2(LPIN2):c.*1418G>A rs552844041 0.00111
NM_001375808.2(LPIN2):c.*1027G>A rs551503883 0.00064
NM_001375808.2(LPIN2):c.*1827G>A rs886053747 0.00053
NM_001375808.2(LPIN2):c.2443-9C>T rs191749331 0.00047
NM_001375808.2(LPIN2):c.*2417C>T rs760089028 0.00046
NM_001375808.2(LPIN2):c.*520T>C rs576721761 0.00045
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=) rs149862905 0.00045
NM_001375808.2(LPIN2):c.*1742A>G rs551448975 0.00044
NM_001375808.2(LPIN2):c.*3280C>T rs751266426 0.00039
NM_001375808.2(LPIN2):c.446C>T (p.Pro149Leu) rs147615538 0.00038
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652 0.00034
NM_001375808.2(LPIN2):c.*2605G>A rs559796642 0.00033
NM_001375808.2(LPIN2):c.*666C>T rs186189096 0.00033
NM_001375808.2(LPIN2):c.*1021G>A rs886053751 0.00029
NM_001375808.2(LPIN2):c.*167C>T rs533979693 0.00027
NM_001375808.2(LPIN2):c.*2391G>A rs536036852 0.00027
NM_001375808.2(LPIN2):c.*1443G>A rs532711041 0.00026
NM_001375808.2(LPIN2):c.*833G>A rs540627141 0.00026
NM_001375808.2(LPIN2):c.-10+1187C>T rs765741319 0.00026
NM_001375808.2(LPIN2):c.*477C>T rs140430664 0.00025
NM_001375808.2(LPIN2):c.1783G>C (p.Ala595Pro) rs373929015 0.00025
NM_001375808.2(LPIN2):c.1168+6C>T rs200130790 0.00024
NM_001375808.2(LPIN2):c.*3217A>G rs767074158 0.00021
NM_001375808.2(LPIN2):c.*1462A>G rs560770304 0.00020
NM_001375808.2(LPIN2):c.*1126G>A rs886053750 0.00019
NM_001375808.2(LPIN2):c.1132C>T (p.Pro378Ser) rs201678207 0.00018
NM_001375808.2(LPIN2):c.2327+10C>T rs367921036 0.00018
NM_001375808.2(LPIN2):c.*1874C>G rs75771450 0.00017
NM_001375808.2(LPIN2):c.*945G>A rs112444822 0.00017
NM_001375808.2(LPIN2):c.2328-13A>T rs199830303 0.00017
NM_001375808.2(LPIN2):c.*660A>G rs754769201 0.00016
NM_001375808.2(LPIN2):c.*2557G>A rs890590348 0.00015
NM_001375808.2(LPIN2):c.1514T>C (p.Ile505Thr) rs146424724 0.00013
NM_001375808.2(LPIN2):c.*2866A>C rs17880885 0.00012
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=) rs186864136 0.00012
NM_001375808.2(LPIN2):c.*897T>G rs886053752 0.00011
NM_001375808.2(LPIN2):c.1169-3C>T rs200259086 0.00011
NM_001375808.2(LPIN2):c.2657C>T (p.Pro886Leu) rs147203309 0.00011
NM_001375808.2(LPIN2):c.*155G>C rs1470550539 0.00010
NM_001375808.2(LPIN2):c.*778C>T rs924335721 0.00010
NM_001375808.2(LPIN2):c.*773C>T rs190290283 0.00009
NM_001375808.2(LPIN2):c.*810G>A rs769197357 0.00009
NM_001375808.2(LPIN2):c.*984T>C rs546238775 0.00008
NM_001375808.2(LPIN2):c.1395C>T (p.Asp465=) rs143562359 0.00008
NM_001375808.2(LPIN2):c.*1026C>T rs529650414 0.00007
NM_001375808.2(LPIN2):c.*252G>A rs886053762 0.00007
NM_001375808.2(LPIN2):c.*1514G>C rs544570644 0.00006
NM_001375808.2(LPIN2):c.*2412C>T rs553336397 0.00006
NM_001375808.2(LPIN2):c.-10+1170G>A rs751000184 0.00006
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser) rs148607670 0.00006
NM_001375808.2(LPIN2):c.1099G>A (p.Ala367Thr) rs540544894 0.00005
NM_001375808.2(LPIN2):c.353T>C (p.Ile118Thr) rs181542503 0.00005
NM_001375808.2(LPIN2):c.*1559A>G rs886053748 0.00004
NM_001375808.2(LPIN2):c.*1810A>G rs886740636 0.00004
NM_001375808.2(LPIN2):c.*2724A>G rs886053744 0.00004
NM_001375808.2(LPIN2):c.*804G>A rs1294529732 0.00004
NM_001375808.2(LPIN2):c.*828T>G rs776259595 0.00004
NM_001375808.2(LPIN2):c.*834G>A rs886053753 0.00004
NM_001375808.2(LPIN2):c.-10+1219C>T rs762246311 0.00004
NM_001375808.2(LPIN2):c.1456+4C>G rs373685201 0.00004
NM_001375808.2(LPIN2):c.1796C>T (p.Pro599Leu) rs372850864 0.00004
NM_001375808.2(LPIN2):c.56A>G (p.Tyr19Cys) rs371299772 0.00004
NM_001375808.2(LPIN2):c.*275C>G rs886053761 0.00003
NM_001375808.2(LPIN2):c.*2999C>A rs138807947 0.00003
NM_001375808.2(LPIN2):c.*84A>G rs886053764 0.00003
NM_001375808.2(LPIN2):c.*934G>C rs1032890815 0.00003
NM_001375808.2(LPIN2):c.*1157T>C rs1240536600 0.00002
NM_001375808.2(LPIN2):c.*2710A>G rs760097342 0.00002
NM_001375808.2(LPIN2):c.*823G>A rs747730329 0.00002
NM_001375808.2(LPIN2):c.1247C>T (p.Ala416Val) rs777239535 0.00002
NM_001375808.2(LPIN2):c.*1104C>T rs913148654 0.00001
NM_001375808.2(LPIN2):c.*1146T>C rs1384648245 0.00001
NM_001375808.2(LPIN2):c.*1239C>T rs1257894281 0.00001
NM_001375808.2(LPIN2):c.*1497C>T rs1321388898 0.00001
NM_001375808.2(LPIN2):c.*493G>C rs886053758 0.00001
NM_001375808.2(LPIN2):c.*506C>T rs886053757 0.00001
NM_001375808.2(LPIN2):c.*517G>A rs760055818 0.00001
NM_001375808.2(LPIN2):c.*725G>A rs886053755 0.00001
NM_001375808.2(LPIN2):c.-10+1254G>A rs886053770 0.00001
NM_001375808.2(LPIN2):c.-10+1349A>G rs538473680 0.00001
NM_001375808.2(LPIN2):c.1171G>A (p.Val391Ile) rs886053767 0.00001
NM_001375808.2(LPIN2):c.1404C>T (p.Asp468=) rs376147435 0.00001
NM_001375808.2(LPIN2):c.1839C>T (p.Leu613=) rs886053766 0.00001
NM_001375808.2(LPIN2):c.2547-1G>A rs145858312 0.00001
NM_001375808.2(LPIN2):c.54C>A (p.Leu18=) rs753729438 0.00001
NM_001375808.2(LPIN2):c.590+8T>G rs760846327 0.00001
NM_001375808.2(LPIN2):c.756G>A (p.Ala252=) rs570485374 0.00001
NM_001375808.2(LPIN2):c.907A>C (p.Ser303Arg) rs139798681 0.00001
NM_001375808.2(LPIN2):c.*1199G>A rs566472161
NM_001375808.2(LPIN2):c.*1220G>A rs886053749
NM_001375808.2(LPIN2):c.*1417C>T rs745743898
NM_001375808.2(LPIN2):c.*1473T>G rs540306659
NM_001375808.2(LPIN2):c.*1494G>A rs577975091
NM_001375808.2(LPIN2):c.*1504T>C rs751740607
NM_001375808.2(LPIN2):c.*1514G>A rs544570644
NM_001375808.2(LPIN2):c.*217G>T rs886053763
NM_001375808.2(LPIN2):c.*2216C>A rs886053746
NM_001375808.2(LPIN2):c.*2685GAAAAA[1] rs777601819
NM_001375808.2(LPIN2):c.*271T>G rs2077028775
NM_001375808.2(LPIN2):c.*2759A>C rs886053743
NM_001375808.2(LPIN2):c.*2787C>G rs886053742
NM_001375808.2(LPIN2):c.*2830C>T rs886053741
NM_001375808.2(LPIN2):c.*2831CA[1] rs886053740
NM_001375808.2(LPIN2):c.*2890_*2893dup rs540600202
NM_001375808.2(LPIN2):c.*362T>C rs886053760
NM_001375808.2(LPIN2):c.*448C>T rs886053759
NM_001375808.2(LPIN2):c.*493G>A rs886053758
NM_001375808.2(LPIN2):c.*507T>C rs886053756
NM_001375808.2(LPIN2):c.*703dup rs200435334
NM_001375808.2(LPIN2):c.*767A>G rs886053754
NM_001375808.2(LPIN2):c.*772G>A rs948592383
NM_001375808.2(LPIN2):c.*792G>C rs542453339
NM_001375808.2(LPIN2):c.*796T>C rs567530586
NM_001375808.2(LPIN2):c.*805C>G rs146605124
NM_001375808.2(LPIN2):c.*805C>T rs146605124
NM_001375808.2(LPIN2):c.*813A>C rs547125074
NM_001375808.2(LPIN2):c.*855A>G rs2077017832
NM_001375808.2(LPIN2):c.*90C>T rs547359065
NM_001375808.2(LPIN2):c.-10+1354A>G rs886053769
NM_001375808.2(LPIN2):c.1051G>C (p.Glu351Gln) rs2077310038
NM_001375808.2(LPIN2):c.1169-7del rs746626720
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=) rs2077138820
NM_001375808.2(LPIN2):c.1939-2del rs745529823
NM_001375808.2(LPIN2):c.2016T>C (p.Cys672=) rs2077101778
NM_001375808.2(LPIN2):c.2161C>T (p.His721Tyr) rs200256485
NM_001375808.2(LPIN2):c.2211C>T (p.Ala737=) rs886053765
NM_001375808.2(LPIN2):c.2573A>G (p.Glu858Gly) rs2077036512
NM_001375808.2(LPIN2):c.601A>G (p.Asn201Asp) rs746938405
NM_001375808.2(LPIN2):c.884A>T (p.Asn295Ile) rs759046454
NM_001375808.2(LPIN2):c.932T>A (p.Val311Asp) rs886053768

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