ClinVar Miner

List of variants reported as uncertain significance for Majeed syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 141
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HGVS dbSNP
NC_000018.9:g.(?_2920271)_(2960858_?)dup
NM_014646.2(LPIN2):c.*1021G>A rs886053751
NM_014646.2(LPIN2):c.*1026C>T rs529650414
NM_014646.2(LPIN2):c.*1027G>A rs551503883
NM_014646.2(LPIN2):c.*1077C>G rs563088438
NM_014646.2(LPIN2):c.*1126G>A rs886053750
NM_014646.2(LPIN2):c.*1179G>A rs147362027
NM_014646.2(LPIN2):c.*1220G>A rs886053749
NM_014646.2(LPIN2):c.*1418G>A rs552844041
NM_014646.2(LPIN2):c.*1462A>G rs560770304
NM_014646.2(LPIN2):c.*1502G>A rs113346639
NM_014646.2(LPIN2):c.*1514G>A rs544570644
NM_014646.2(LPIN2):c.*1514G>C rs544570644
NM_014646.2(LPIN2):c.*151G>A rs571000282
NM_014646.2(LPIN2):c.*1559A>G rs886053748
NM_014646.2(LPIN2):c.*1586G>A rs144299426
NM_014646.2(LPIN2):c.*158G>A rs547872442
NM_014646.2(LPIN2):c.*1622T>C rs111366726
NM_014646.2(LPIN2):c.*1742A>G rs551448975
NM_014646.2(LPIN2):c.*1827G>A rs886053747
NM_014646.2(LPIN2):c.*1874C>G rs75771450
NM_014646.2(LPIN2):c.*2076C>A rs112529707
NM_014646.2(LPIN2):c.*2103G>A rs561577089
NM_014646.2(LPIN2):c.*217G>T rs886053763
NM_014646.2(LPIN2):c.*2216C>A rs886053746
NM_014646.2(LPIN2):c.*2390C>T rs555969171
NM_014646.2(LPIN2):c.*2412C>T rs553336397
NM_014646.2(LPIN2):c.*251C>T rs563023966
NM_014646.2(LPIN2):c.*252G>A rs886053762
NM_014646.2(LPIN2):c.*2691_*2696delGAAAAA rs777601819
NM_014646.2(LPIN2):c.*2724A>G rs886053744
NM_014646.2(LPIN2):c.*2759A>C rs886053743
NM_014646.2(LPIN2):c.*275C>G rs886053761
NM_014646.2(LPIN2):c.*2787C>G rs886053742
NM_014646.2(LPIN2):c.*2830C>T rs886053741
NM_014646.2(LPIN2):c.*2833_*2834delCA rs886053740
NM_014646.2(LPIN2):c.*2866A>C rs17880885
NM_014646.2(LPIN2):c.*2890_*2893dupTTTC rs540600202
NM_014646.2(LPIN2):c.*2999C>A rs138807947
NM_014646.2(LPIN2):c.*3015T>C rs14916
NM_014646.2(LPIN2):c.*3217A>G rs767074158
NM_014646.2(LPIN2):c.*3280C>T rs751266426
NM_014646.2(LPIN2):c.*358G>A rs184193388
NM_014646.2(LPIN2):c.*362T>C rs886053760
NM_014646.2(LPIN2):c.*448C>T rs886053759
NM_014646.2(LPIN2):c.*493G>A rs886053758
NM_014646.2(LPIN2):c.*506C>T rs886053757
NM_014646.2(LPIN2):c.*507T>C rs886053756
NM_014646.2(LPIN2):c.*666C>T rs186189096
NM_014646.2(LPIN2):c.*703dupG rs200435334
NM_014646.2(LPIN2):c.*725G>A rs886053755
NM_014646.2(LPIN2):c.*767A>G rs886053754
NM_014646.2(LPIN2):c.*792G>C rs542453339
NM_014646.2(LPIN2):c.*796T>C rs567530586
NM_014646.2(LPIN2):c.*805C>G rs146605124
NM_014646.2(LPIN2):c.*813A>C rs547125074
NM_014646.2(LPIN2):c.*823G>A rs747730329
NM_014646.2(LPIN2):c.*833G>A rs540627141
NM_014646.2(LPIN2):c.*834G>A rs886053753
NM_014646.2(LPIN2):c.*84A>G rs886053764
NM_014646.2(LPIN2):c.*897T>G rs886053752
NM_014646.2(LPIN2):c.*903T>A rs78462116
NM_014646.2(LPIN2):c.-10+12T>C rs566304730
NM_014646.2(LPIN2):c.-125G>A rs886053770
NM_014646.2(LPIN2):c.-160C>T rs762246311
NM_014646.2(LPIN2):c.-173A>T rs112648131
NM_014646.2(LPIN2):c.-192C>T rs765741319
NM_014646.2(LPIN2):c.-209G>A rs751000184
NM_014646.2(LPIN2):c.-25A>G rs886053769
NM_014646.2(LPIN2):c.-66C>T rs116643915
NM_014646.2(LPIN2):c.106G>A (p.Val36Ile)
NM_014646.2(LPIN2):c.1082C>T (p.Ala361Val)
NM_014646.2(LPIN2):c.1099G>A (p.Ala367Thr) rs540544894
NM_014646.2(LPIN2):c.1132C>T (p.Pro378Ser) rs201678207
NM_014646.2(LPIN2):c.1133C>T (p.Pro378Leu)
NM_014646.2(LPIN2):c.1151C>T (p.Ser384Leu)
NM_014646.2(LPIN2):c.1154C>T (p.Pro385Leu) rs754221410
NM_014646.2(LPIN2):c.1168+4A>G
NM_014646.2(LPIN2):c.1168+6C>T rs200130790
NM_014646.2(LPIN2):c.1169-3C>T rs200259086
NM_014646.2(LPIN2):c.1169-7delT rs746626720
NM_014646.2(LPIN2):c.1171G>A (p.Val391Ile) rs886053767
NM_014646.2(LPIN2):c.1203T>G (p.Asp401Glu) rs1018736752
NM_014646.2(LPIN2):c.1247C>T (p.Ala416Val) rs777239535
NM_014646.2(LPIN2):c.1282G>A (p.Gly428Ser) rs768189312
NM_014646.2(LPIN2):c.1312C>T (p.Leu438Phe) rs138079183
NM_014646.2(LPIN2):c.1315T>C (p.Ser439Pro) rs1555673672
NM_014646.2(LPIN2):c.1339G>A (p.Val447Met) rs373758040
NM_014646.2(LPIN2):c.1348G>A (p.Ala450Thr) rs771486222
NM_014646.2(LPIN2):c.1367C>T (p.Thr456Ile)
NM_014646.2(LPIN2):c.1395C>T (p.Asp465=) rs143562359
NM_014646.2(LPIN2):c.1404C>T (p.Asp468=) rs376147435
NM_014646.2(LPIN2):c.1456+4C>G rs373685201
NM_014646.2(LPIN2):c.147C>T (p.His49=) rs17886056
NM_014646.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500
NM_014646.2(LPIN2):c.1514T>C (p.Ile505Thr) rs146424724
NM_014646.2(LPIN2):c.1522C>T (p.Pro508Ser)
NM_014646.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314
NM_014646.2(LPIN2):c.1783G>C (p.Ala595Pro) rs373929015
NM_014646.2(LPIN2):c.1796C>T (p.Pro599Leu) rs372850864
NM_014646.2(LPIN2):c.1839C>T (p.Leu613=) rs886053766
NM_014646.2(LPIN2):c.1938+4A>G rs1397526157
NM_014646.2(LPIN2):c.1939-2delA rs745529823
NM_014646.2(LPIN2):c.1939-5A>G rs779830291
NM_014646.2(LPIN2):c.200T>C (p.Ile67Thr)
NM_014646.2(LPIN2):c.206T>C (p.Ile69Thr) rs1555677681
NM_014646.2(LPIN2):c.2088G>A (p.Lys696=) rs778440902
NM_014646.2(LPIN2):c.2211C>T (p.Ala737=) rs886053765
NM_014646.2(LPIN2):c.2223C>T (p.Ala741=) rs17555442
NM_014646.2(LPIN2):c.2224G>A (p.Asp742Asn) rs779538504
NM_014646.2(LPIN2):c.2237G>A (p.Gly746Asp) rs1555672260
NM_014646.2(LPIN2):c.2409G>C (p.Gln803His) rs876660987
NM_014646.2(LPIN2):c.2420C>T (p.Ala807Val)
NM_014646.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737
NM_014646.2(LPIN2):c.2547-1G>A rs145858312
NM_014646.2(LPIN2):c.2569G>T (p.Val857Leu) rs1346809433
NM_014646.2(LPIN2):c.2617C>A (p.Pro873Thr)
NM_014646.2(LPIN2):c.2621G>A (p.Cys874Tyr) rs201160155
NM_014646.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_014646.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602
NM_014646.2(LPIN2):c.2650C>T (p.Arg884Ter) rs547662448
NM_014646.2(LPIN2):c.2657C>T (p.Pro886Leu) rs147203309
NM_014646.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652
NM_014646.2(LPIN2):c.353T>C (p.Ile118Thr) rs181542503
NM_014646.2(LPIN2):c.374C>G (p.Ser125Trp)
NM_014646.2(LPIN2):c.377G>A (p.Gly126Asp)
NM_014646.2(LPIN2):c.388A>G (p.Thr130Ala) rs191101701
NM_014646.2(LPIN2):c.446C>T (p.Pro149Leu) rs147615538
NM_014646.2(LPIN2):c.517G>A (p.Ala173Thr) rs140609636
NM_014646.2(LPIN2):c.523G>C (p.Ala175Pro) rs1334969199
NM_014646.2(LPIN2):c.584C>G (p.Ala195Gly) rs1226336598
NM_014646.2(LPIN2):c.584C>T (p.Ala195Val) rs1226336598
NM_014646.2(LPIN2):c.590+6A>G rs73375280
NM_014646.2(LPIN2):c.698C>T (p.Thr233Ile)
NM_014646.2(LPIN2):c.71A>G (p.Gln24Arg) rs1568575278
NM_014646.2(LPIN2):c.755C>T (p.Ala252Val)
NM_014646.2(LPIN2):c.802G>A (p.Gly268Arg)
NM_014646.2(LPIN2):c.907A>C (p.Ser303Arg)
NM_014646.2(LPIN2):c.932T>A (p.Val311Asp) rs886053768
NM_014646.2(LPIN2):c.970A>T (p.Ile324Leu) rs1476358117
NM_014646.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805

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