ClinVar Miner

List of variants studied for 3-methylglutaconic aciduria

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 594
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HGVS dbSNP
AMN, IVS3, A-G, -2
NC_000011.9:g.(?_72004391)_(72145538_?)del
NC_000014.8:g.(?_103336519)_(103397037_?)del
NC_000023.10:g.(?_153640161)_(153649363_?)dup
NC_000023.10:g.(?_153640181)_(153641904_?)del
NC_012920.1:m.3243A>G rs199474657
NM_000116.3(TAZ):c.-120delT rs11388353
NM_000116.5(TAZ):c.*387C>T rs1057515819
NM_000116.5(TAZ):c.*396C>T rs144283894
NM_000116.5(TAZ):c.*470= rs743547
NM_000116.5(TAZ):c.*560G>A rs782808430
NM_000116.5(TAZ):c.-88G>C rs113130344
NM_000116.5(TAZ):c.110-17= rs62617809
NM_000116.5(TAZ):c.110-2A>G
NM_000116.5(TAZ):c.123C>T (p.His41=) rs368329470
NM_000116.5(TAZ):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAZ):c.208C>T (p.Gln70Ter) rs397515738
NM_000116.5(TAZ):c.227C>G (p.Pro76Arg) rs878853654
NM_000116.5(TAZ):c.238+2_238+9del
NM_000116.5(TAZ):c.238+6C>T
NM_000116.5(TAZ):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAZ):c.239-1G>A
NM_000116.5(TAZ):c.239-1G>C
NM_000116.5(TAZ):c.280C>A (p.Arg94Ser) rs104894942
NM_000116.5(TAZ):c.281G>A (p.Arg94His)
NM_000116.5(TAZ):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.5(TAZ):c.284+110G>A
NM_000116.5(TAZ):c.284+4A>T
NM_000116.5(TAZ):c.299C>T (p.Ala100Val) rs1569552722
NM_000116.5(TAZ):c.307T>C (p.Cys103Arg) rs397515740
NM_000116.5(TAZ):c.310T>C (p.Phe104Leu) rs397515741
NM_000116.5(TAZ):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAZ):c.331C>T (p.His111Tyr) rs200405157
NM_000116.5(TAZ):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAZ):c.352T>C (p.Cys118Arg) rs104894937
NM_000116.5(TAZ):c.367C>T (p.Arg123Ter) rs1569552731
NM_000116.5(TAZ):c.370G>T (p.Gly124Ter)
NM_000116.5(TAZ):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.5(TAZ):c.416A>T (p.Asp139Val)
NM_000116.5(TAZ):c.460+1G>A rs878853655
NM_000116.5(TAZ):c.469G>A (p.Val157Ile)
NM_000116.5(TAZ):c.504G>A (p.Lys168=) rs1057515818
NM_000116.5(TAZ):c.51G>T (p.Trp17Cys)
NM_000116.5(TAZ):c.535C>G (p.Pro179Ala) rs397515744
NM_000116.5(TAZ):c.542-20C>T rs373841640
NM_000116.5(TAZ):c.542-3C>G rs781795144
NM_000116.5(TAZ):c.543G>A (p.Gly181=) rs782471244
NM_000116.5(TAZ):c.562G>A (p.Glu188Lys)
NM_000116.5(TAZ):c.576C>G (p.Phe192Leu)
NM_000116.5(TAZ):c.583G>A (p.Gly195Arg) rs878853656
NM_000116.5(TAZ):c.584-7del rs782192927
NM_000116.5(TAZ):c.589G>A (p.Gly197Arg) rs132630277
NM_000116.5(TAZ):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAZ):c.594C>T (p.Arg198=) rs797040235
NM_000116.5(TAZ):c.605_608del (p.Glu202fs)
NM_000116.5(TAZ):c.606G>C (p.Glu202Asp)
NM_000116.5(TAZ):c.628C>T (p.Leu210=) rs782162647
NM_000116.5(TAZ):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAZ):c.647-1G>C rs587776741
NM_000116.5(TAZ):c.647G>A (p.Gly216Glu)
NM_000116.5(TAZ):c.647G>T (p.Gly216Val) rs727504431
NM_000116.5(TAZ):c.657C>T (p.Asp219=) rs140751478
NM_000116.5(TAZ):c.660C>T (p.Val220=) rs372610945
NM_000116.5(TAZ):c.674C>T (p.Pro225Leu) rs375151766
NM_000116.5(TAZ):c.675G>A (p.Pro225=) rs201046790
NM_000116.5(TAZ):c.689G>A (p.Arg230His)
NM_000116.5(TAZ):c.697C>T (p.Gln233Ter)
NM_000116.5(TAZ):c.69C>T (p.Val23=) rs782123597
NM_000116.5(TAZ):c.700-1G>A rs397515747
NM_000116.5(TAZ):c.708_709TG[1] (p.Val237fs) rs727504394
NM_000116.5(TAZ):c.718G>A (p.Gly240Arg) rs387907218
NM_000116.5(TAZ):c.747C>T (p.Leu249=) rs376379156
NM_000116.5(TAZ):c.751C>T (p.Arg251Trp) rs372689133
NM_000116.5(TAZ):c.754_763del (p.Leu252fs) rs1557194381
NM_000116.5(TAZ):c.758G>A (p.Arg253Gln) rs782653725
NM_000116.5(TAZ):c.763G>A (p.Glu255Lys) rs782498694
NM_000116.5(TAZ):c.768C>G (p.Asn256Lys) rs926124671
NM_000116.5(TAZ):c.774G>A (p.Ser258=) rs782273950
NM_000116.5(TAZ):c.777+6T>C
NM_000116.5(TAZ):c.790A>G (p.Lys264Glu) rs1557194488
NM_000116.5(TAZ):c.801G>A (p.Thr267=) rs781792950
NM_000116.5(TAZ):c.811C>T (p.Gln271Ter)
NM_000116.5(TAZ):c.836del (p.Thr279fs) rs1557194525
NM_000116.5(TAZ):c.873G>A (p.Gly291=) rs35902788
NM_001001563.5(TIMM50):c.340C>T (p.Arg114Trp) rs1300848445
NM_001001563.5(TIMM50):c.446C>T (p.Thr149Met) rs1244226820
NM_001001563.5(TIMM50):c.664G>A (p.Ala222Thr) rs1305711807
NM_001001563.5(TIMM50):c.715C>T (p.Arg239Trp) rs1449758112
NM_001017989.2(OPA3):c.-113T>C rs139731330
NM_001017989.3(OPA3):c.-38A>G rs45527139
NM_001017989.3(OPA3):c.-7C>G rs199590627
NM_001017989.3(OPA3):c.100dup (p.Ser34fs) rs1555736803
NM_001017989.3(OPA3):c.142+1G>A rs1555736793
NM_001017989.3(OPA3):c.142+2_142+3dup rs1555736791
NM_001017989.3(OPA3):c.142+5G>C rs1250409781
NM_001017989.3(OPA3):c.143-16812G>A rs192699227
NM_001017989.3(OPA3):c.143-16877G>A rs74253369
NM_001017989.3(OPA3):c.143-16962_143-16958del rs565521231
NM_001017989.3(OPA3):c.143-16973A>G rs67373144
NM_001017989.3(OPA3):c.143-17043G>A rs112948303
NM_001017989.3(OPA3):c.143-17156G>A rs528812143
NM_001017989.3(OPA3):c.143-17268T>C rs10422253
NM_001017989.3(OPA3):c.143-17285G>T rs886054504
NM_001017989.3(OPA3):c.143-17291G>A rs142898530
NM_001017989.3(OPA3):c.143-17370G>A rs181576269
NM_001017989.3(OPA3):c.143-17384T>C rs534603782
NM_001017989.3(OPA3):c.143-17488G>C rs773109015
NM_001017989.3(OPA3):c.143-17597C>T rs886054505
NM_001017989.3(OPA3):c.143-17616A>G rs76825983
NM_001017989.3(OPA3):c.143-17622_143-17621insG rs886054506
NM_001017989.3(OPA3):c.143-17664G>A rs151030695
NM_001017989.3(OPA3):c.143-17764A>C rs114655581
NM_001017989.3(OPA3):c.143-17769A>G rs182293743
NM_001017989.3(OPA3):c.143-17780G>A rs886054507
NM_001017989.3(OPA3):c.143-17783T>C rs74689727
NM_001017989.3(OPA3):c.143-17850C>T rs139798464
NM_001017989.3(OPA3):c.143-17933G>A rs780617440
NM_001017989.3(OPA3):c.143-17954_143-17953del rs142661638
NM_001017989.3(OPA3):c.143-17986A>G rs576104602
NM_001017989.3(OPA3):c.143-18046A>G rs11083772
NM_001017989.3(OPA3):c.143-18114G>A rs190885103
NM_001017989.3(OPA3):c.143-18153G>A rs116705343
NM_001017989.3(OPA3):c.143-18170C>T rs886054508
NM_001017989.3(OPA3):c.143-18185C>T rs886054509
NM_001017989.3(OPA3):c.143-18275G>A rs550679720
NM_001017989.3(OPA3):c.143-18284G>C rs886054510
NM_001017989.3(OPA3):c.143-18284G>T rs886054510
NM_001017989.3(OPA3):c.143-18319C>T rs375835737
NM_001017989.3(OPA3):c.143-18461C>T rs560019290
NM_001017989.3(OPA3):c.143-18533C>T rs117230006
NM_001017989.3(OPA3):c.143-18535G>A rs57585727
NM_001017989.3(OPA3):c.143-18562C>T rs886054511
NM_001017989.3(OPA3):c.143-18701G>A rs549141863
NM_001017989.3(OPA3):c.143-18800A>G rs886054512
NM_001017989.3(OPA3):c.143-19089C>G rs886054513
NM_001017989.3(OPA3):c.143-19104C>T rs146646433
NM_001017989.3(OPA3):c.143-19109G>A rs544881797
NM_001017989.3(OPA3):c.143-19139_143-19137del rs886054514
NM_001017989.3(OPA3):c.143-19196_143-19193del rs886054515
NM_001017989.3(OPA3):c.143-19201A>T rs4803833
NM_001017989.3(OPA3):c.143-19205T>A rs886054516
NM_001017989.3(OPA3):c.143-19208_143-19206del rs144752998
NM_001017989.3(OPA3):c.143-19264C>T rs114917731
NM_001017989.3(OPA3):c.143-19346del rs886054518
NM_001017989.3(OPA3):c.143-19362ATAA[6] rs58537694
NM_001017989.3(OPA3):c.143-19362ATAA[8] rs58537694
NM_001017989.3(OPA3):c.143-19362ATAA[9] rs58537694
NM_001017989.3(OPA3):c.143-19386G>A rs11669246
NM_001017989.3(OPA3):c.143-19472G>A rs886054519
NM_001017989.3(OPA3):c.143-19473C>T rs886054520
NM_001017989.3(OPA3):c.143-19537G>A rs886054521
NM_001017989.3(OPA3):c.143-19594G>T rs886054522
NM_001017989.3(OPA3):c.143-19619C>T rs538388889
NM_001017989.3(OPA3):c.143-19639C>T rs886054523
NM_001017989.3(OPA3):c.143-19740T>C rs4802261
NM_001017989.3(OPA3):c.143-19926CCCTG[3] rs68079762
NM_001017989.3(OPA3):c.143-20032del rs879119658
NM_001017989.3(OPA3):c.143-20043dup rs879119658
NM_001017989.3(OPA3):c.143-20086C>T rs147972697
NM_001017989.3(OPA3):c.143-20167C>T rs752997579
NM_001017989.3(OPA3):c.143-20174G>A rs187028696
NM_001017989.3(OPA3):c.143-20180A>G rs79660166
NM_001017989.3(OPA3):c.143-20184G>A rs62109650
NM_001017989.3(OPA3):c.143-20213C>T rs886054525
NM_001017989.3(OPA3):c.143-20303G>A rs555830952
NM_001017989.3(OPA3):c.143-20336G>A rs73568973
NM_001017989.3(OPA3):c.143-20477C>T rs576070088
NM_001017989.3(OPA3):c.143-20527G>T rs112899014
NM_001017989.3(OPA3):c.143-20562C>G rs749084024
NM_001017989.3(OPA3):c.143-20671G>A rs3760844
NM_001017989.3(OPA3):c.143-20698G>A rs545764728
NM_001017989.3(OPA3):c.143-20715TCTTT[2] rs373580645
NM_001017989.3(OPA3):c.143-20780C>T rs770317628
NM_001017989.3(OPA3):c.143-20836C>T rs73568980
NM_001017989.3(OPA3):c.143-20846G>A rs79317386
NM_001017989.3(OPA3):c.143-20941C>T rs569595277
NM_001017989.3(OPA3):c.143-20947AGC[3] rs542311224
NM_001017989.3(OPA3):c.143-21020G>A rs73568982
NM_001017989.3(OPA3):c.143-21162G>A rs190488484
NM_001017989.3(OPA3):c.143-21344C>T rs781539538
NM_001017989.3(OPA3):c.143-21356G>T rs886054526
NM_001017989.3(OPA3):c.143-21362C>G rs148705681
NM_001017989.3(OPA3):c.143-21468G>T rs886054527
NM_001017989.3(OPA3):c.143-21513G>A rs886054528
NM_001017989.3(OPA3):c.143-21540A>G rs565012397
NM_001017989.3(OPA3):c.143-21568C>T rs11671670
NM_001017989.3(OPA3):c.143-21573G>A rs8106584
NM_001017989.3(OPA3):c.143-21589G>A rs115566341
NM_001017989.3(OPA3):c.143-21915_143-21914del rs532263532
NM_001017989.3(OPA3):c.143-21957A>T rs139606810
NM_001017989.3(OPA3):c.143-21969T>C rs886054529
NM_001017989.3(OPA3):c.143-22050C>T rs144432336
NM_001017989.3(OPA3):c.143-22108G>A rs4404183
NM_001017989.3(OPA3):c.143-22195T>G rs769185702
NM_001017989.3(OPA3):c.143-22203T>C rs146599259
NM_001017989.3(OPA3):c.143-22222C>T rs74717111
NM_001017989.3(OPA3):c.143-22259A>G rs886054530
NM_001017989.3(OPA3):c.143-22298C>T rs75401979
NM_001017989.3(OPA3):c.143-22416A>G rs144894771
NM_001017989.3(OPA3):c.143-22580A>G rs886054531
NM_001017989.3(OPA3):c.143-22671C>T rs73568986
NM_001017989.3(OPA3):c.143-22718C>T rs12104391
NM_001017989.3(OPA3):c.143-22770dup rs74313320
NM_001017989.3(OPA3):c.143-22804A>C rs886054532
NM_001017989.3(OPA3):c.143-22820G>A rs187216413
NM_001017989.3(OPA3):c.143-22845C>T rs539298843
NM_001017989.3(OPA3):c.143-22963C>A rs148228876
NM_001017989.3(OPA3):c.143-22967C>G rs557691359
NM_001017989.3(OPA3):c.143-22982A>G rs886054533
NM_001017989.3(OPA3):c.143-23072del rs377547137
NM_001017989.3(OPA3):c.143-23087dup rs377547137
NM_001017989.3(OPA3):c.143-23136G>T rs886054535
NM_001017989.3(OPA3):c.143-23237A>T rs886054536
NM_001017989.3(OPA3):c.143-23345C>G rs143735864
NM_001017989.3(OPA3):c.143-23381C>T rs560749495
NM_001017989.3(OPA3):c.143-23409C>T rs886054537
NM_001017989.3(OPA3):c.143-23420T>A rs150575877
NM_001017989.3(OPA3):c.143-23481T>C rs112654759
NM_001017989.3(OPA3):c.143-23513G>T rs886054538
NM_001017989.3(OPA3):c.143-23636C>T rs116977551
NM_001017989.3(OPA3):c.143-23638A>G rs868102539
NM_001017989.3(OPA3):c.143-23660G>T rs183851663
NM_001017989.3(OPA3):c.143-23696T>C rs73942919
NM_001017989.3(OPA3):c.143-23732_143-23731del rs571672143
NM_001017989.3(OPA3):c.143-23736A>G rs886054539
NM_001017989.3(OPA3):c.143-23756C>T rs886054540
NM_001017989.3(OPA3):c.143-23786G>A rs7246349
NM_001017989.3(OPA3):c.143-23906G>A rs3826861
NM_001017989.3(OPA3):c.143-23978G>T rs540023428
NM_001017989.3(OPA3):c.143-24008_143-24006del rs886054541
NM_001017989.3(OPA3):c.143-24059A>G rs1057516497
NM_001017989.3(OPA3):c.143-24111C>T rs780492515
NM_001017989.3(OPA3):c.143-24128_143-24120del rs745544229
NM_001017989.3(OPA3):c.143-24154C>T rs759536853
NM_001017989.3(OPA3):c.143-24167del rs1205708262
NM_001017989.3(OPA3):c.143-24179_143-24174dup rs1363616568
NM_001017989.3(OPA3):c.143-24183C>T rs28937899
NM_001017989.3(OPA3):c.143-24186G>A rs201574732
NM_001017989.3(OPA3):c.143-24231C>A rs1022155897
NM_001017989.3(OPA3):c.143-24264del rs1555732911
NM_001017989.3(OPA3):c.143-24267_143-24265del rs1353357190
NM_001017989.3(OPA3):c.143-24276_143-24259del rs80356526
NM_001017989.3(OPA3):c.143-24285C>G rs80356525
NM_001017989.3(OPA3):c.143-24293_143-24276dup
NM_001017989.3(OPA3):c.143-24350_143-24347dup rs1555732942
NM_001017989.3(OPA3):c.143-24367T>C rs3826860
NM_001017989.3(OPA3):c.143-24381dup rs1555732963
NM_001017989.3(OPA3):c.143-24384A>G rs1382779104
NM_001017989.3(OPA3):c.143-24456G>C rs80356523
NM_001017989.3(OPA3):c.217G>T (p.Glu73Ter) rs759861826
NM_001017989.3(OPA3):c.221del (p.Gly74fs) rs779350552
NM_001017989.3(OPA3):c.232G>T (p.Glu78Ter) rs763348163
NM_001017989.3(OPA3):c.256G>T (p.Glu86Ter) rs780614894
NM_001017989.3(OPA3):c.268_270del (p.Phe90del) rs755084544
NM_001017989.3(OPA3):c.2_4TGG[2] (p.Val3del) rs1555736840
NM_001017989.3(OPA3):c.313C>T (p.Gln105Ter) rs1225701554
NM_001017989.3(OPA3):c.343C>T (p.Arg115Ter) rs762247018
NM_001017989.3(OPA3):c.380del (p.Gly127fs) rs1555730165
NM_001017989.3(OPA3):c.415C>T (p.Gln139Ter) rs762180740
NM_001017989.3(OPA3):c.421C>T (p.Gln141Ter) rs374175877
NM_001017989.3(OPA3):c.436C>T (p.Gln146Ter) rs1555730159
NM_001017989.3(OPA3):c.444_448del (p.Leu149fs) rs1555730158
NM_001017989.3(OPA3):c.445del (p.Leu149fs) rs780299639
NM_001017989.3(OPA3):c.448G>T (p.Glu150Ter) rs1555730157
NM_001017989.3(OPA3):c.464_467dup (p.Gln157fs)
NM_001017989.3(OPA3):c.535delinsAA (p.Glu179fs) rs1555730141
NM_001017989.3(OPA3):c.541T>C (p.Ter181Gln) rs1555730136
NM_001017989.3(OPA3):c.542A>G (p.Ter181Trp) rs375580763
NM_001017989.3(OPA3):c.542_543del (p.Lys180_Ter181insTer) rs1555730133
NM_001017989.3(OPA3):c.55G>A (p.Val19Ile) rs1343690502
NM_001017989.3(OPA3):c.61A>T (p.Lys21Ter) rs1555736814
NM_001081.3(CUBN):c.1000C>T (p.Gln334Ter) rs561240556
NM_001081.3(CUBN):c.10039G>A (p.Gly3347Arg) rs146027947
NM_001081.3(CUBN):c.10119C>A (p.Val3373=) rs139596037
NM_001081.3(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230
NM_001081.3(CUBN):c.10285dup (p.Gln3429fs) rs754704005
NM_001081.3(CUBN):c.10351G>A (p.Asp3451Asn) rs145661638
NM_001081.3(CUBN):c.10383C>T (p.Ser3461=) rs141937843
NM_001081.3(CUBN):c.10471A>G (p.Ser3491Gly) rs1183879233
NM_001081.3(CUBN):c.10612G>A (p.Glu3538Lys)
NM_001081.3(CUBN):c.10764+1G>A rs374982220
NM_001081.3(CUBN):c.1230+1G>A rs386833766
NM_001081.3(CUBN):c.1436C>G (p.Ser479Ter) rs386833767
NM_001081.3(CUBN):c.1526del (p.Gly509fs) rs386833768
NM_001081.3(CUBN):c.1530G>A (p.Lys510=) rs386833769
NM_001081.3(CUBN):c.1558C>T (p.Arg520Trp) rs564637804
NM_001081.3(CUBN):c.1838del (p.Gly613fs) rs386833770
NM_001081.3(CUBN):c.1865del (p.Thr622fs) rs386833771
NM_001081.3(CUBN):c.1951C>G (p.Arg651Gly) rs182512508
NM_001081.3(CUBN):c.1951C>T (p.Arg651Ter) rs182512508
NM_001081.3(CUBN):c.196G>A (p.Gly66Arg) rs12259370
NM_001081.3(CUBN):c.1999A>G (p.Thr667Ala)
NM_001081.3(CUBN):c.2068A>G (p.Ile690Val) rs386833772
NM_001081.3(CUBN):c.2306G>A (p.Arg769Gln)
NM_001081.3(CUBN):c.2486C>T (p.Ser829Leu) rs386833773
NM_001081.3(CUBN):c.250C>T (p.Gln84Ter) rs386833774
NM_001081.3(CUBN):c.2515_2533del (p.Glu839fs) rs386833775
NM_001081.3(CUBN):c.252+1G>A rs386833776
NM_001081.3(CUBN):c.2594G>A (p.Ser865Asn) rs138083522
NM_001081.3(CUBN):c.2614_2615del (p.Asp872fs) rs386833777
NM_001081.3(CUBN):c.2673C>A (p.Cys891Ter) rs386833778
NM_001081.3(CUBN):c.2756A>G (p.His919Arg) rs148869805
NM_001081.3(CUBN):c.2791+6A>C rs78549445
NM_001081.3(CUBN):c.2810C>G (p.Thr937Arg)
NM_001081.3(CUBN):c.2822G>A (p.Gly941Glu)
NM_001081.3(CUBN):c.2929T>C (p.Phe977Leu)
NM_001081.3(CUBN):c.2949C>A (p.Tyr983Ter) rs386833779
NM_001081.3(CUBN):c.3056C>G (p.Ser1019Ter) rs386833780
NM_001081.3(CUBN):c.3096del (p.Ala1031_Tyr1032insTer) rs386833781
NM_001081.3(CUBN):c.322A>G (p.Ser108Gly) rs1564526263
NM_001081.3(CUBN):c.3330-439C>G rs386833782
NM_001081.3(CUBN):c.3391A>G (p.Thr1131Ala)
NM_001081.3(CUBN):c.3473G>A (p.Trp1158Ter) rs1564492988
NM_001081.3(CUBN):c.348+2T>C
NM_001081.3(CUBN):c.349C>A (p.Leu117Met)
NM_001081.3(CUBN):c.3577T>G (p.Trp1193Gly) rs386833783
NM_001081.3(CUBN):c.3604G>A (p.Ala1202Thr) rs141740096
NM_001081.3(CUBN):c.3646C>G (p.Pro1216Ala)
NM_001081.3(CUBN):c.3749C>T (p.Ser1250Phe) rs386833784
NM_001081.3(CUBN):c.3823C>T (p.Arg1275Trp)
NM_001081.3(CUBN):c.3890C>T (p.Pro1297Leu) rs121434430
NM_001081.3(CUBN):c.3896C>G (p.Pro1299Arg) rs752570169
NM_001081.3(CUBN):c.3932G>A (p.Arg1311Gln)
NM_001081.3(CUBN):c.3999C>A (p.Cys1333Ter) rs386833785
NM_001081.3(CUBN):c.4115C>G (p.Thr1372Arg) rs386833786
NM_001081.3(CUBN):c.4167C>T (p.Tyr1389=) rs150510291
NM_001081.3(CUBN):c.4168G>A (p.Gly1390Ser) rs386833787
NM_001081.3(CUBN):c.4206C>T (p.Phe1402=) rs563089365
NM_001081.3(CUBN):c.434G>A (p.Gly145Glu) rs386833788
NM_001081.3(CUBN):c.4459C>T (p.Arg1487Ter)
NM_001081.3(CUBN):c.4460_4464delGATTC
NM_001081.3(CUBN):c.4837C>T (p.Arg1613Ter) rs769881615
NM_001081.3(CUBN):c.489G>A (p.Lys163=) rs386833789
NM_001081.3(CUBN):c.4921del (p.Tyr1641fs) rs1564443979
NM_001081.3(CUBN):c.4964C>G (p.Pro1655Arg) rs532968940
NM_001081.3(CUBN):c.516C>T (p.Asn172=) rs576450214
NM_001081.3(CUBN):c.5189C>T (p.Thr1730Met) rs201958183
NM_001081.3(CUBN):c.5285T>G (p.Val1762Gly) rs149164899
NM_001081.3(CUBN):c.5302_5304del (p.Ile1768del) rs775161946
NM_001081.3(CUBN):c.536G>T (p.Gly179Val)
NM_001081.3(CUBN):c.5428C>T (p.Arg1810Ter)
NM_001081.3(CUBN):c.5459A>G (p.Tyr1820Cys)
NM_001081.3(CUBN):c.5470G>A (p.Val1824Ile)
NM_001081.3(CUBN):c.5511dup (p.Gly1838fs) rs1168074679
NM_001081.3(CUBN):c.5530C>T (p.Gln1844Ter) rs1564435943
NM_001081.3(CUBN):c.5549-2A>C rs1564435513
NM_001081.3(CUBN):c.5580T>A (p.His1860Gln) rs980358703
NM_001081.3(CUBN):c.5600del (p.Phe1867fs) rs747417629
NM_001081.3(CUBN):c.5806_5807delinsAA (p.Ser1936Asn) rs1554796668
NM_001081.3(CUBN):c.5840C>A (p.Ser1947Tyr) rs147617753
NM_001081.3(CUBN):c.5909_5912TACC[1] (p.Thr1972fs) rs765301342
NM_001081.3(CUBN):c.6020C>T (p.Thr2007Met)
NM_001081.3(CUBN):c.6089G>A (p.Arg2030Gln) rs143400113
NM_001081.3(CUBN):c.6125-2A>G rs75386064
NM_001081.3(CUBN):c.6142C>G (p.Gln2048Glu) rs146995189
NM_001081.3(CUBN):c.6225G>A (p.Ser2075=) rs75737363
NM_001081.3(CUBN):c.6359G>A (p.Trp2120Ter) rs566060177
NM_001081.3(CUBN):c.6479A>G (p.Asp2160Gly) rs144704318
NM_001081.3(CUBN):c.6661G>A (p.Val2221Ile) rs143291127
NM_001081.3(CUBN):c.6728C>T (p.Pro2243Leu)
NM_001081.3(CUBN):c.673T>A (p.Cys225Ser) rs386833790
NM_001081.3(CUBN):c.6788T>G (p.Phe2263Cys) rs2271460
NM_001081.3(CUBN):c.6833A>G (p.Asn2278Ser)
NM_001081.3(CUBN):c.6847C>T (p.Arg2283Trp)
NM_001081.3(CUBN):c.6928_6934del (p.Glu2310fs) rs757649673
NM_001081.3(CUBN):c.6938A>T (p.Tyr2313Phe) rs140806389
NM_001081.3(CUBN):c.7007G>A (p.Cys2336Tyr)
NM_001081.3(CUBN):c.704G>C (p.Arg235Pro)
NM_001081.3(CUBN):c.7107G>A (p.Gly2369=) rs145537365
NM_001081.3(CUBN):c.7316C>G (p.Ser2439Ter) rs1564421451
NM_001081.3(CUBN):c.7331G>A (p.Arg2444Gln)
NM_001081.3(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001081.3(CUBN):c.7390A>C (p.Thr2464Pro)
NM_001081.3(CUBN):c.7403A>G (p.Tyr2468Cys)
NM_001081.3(CUBN):c.7646C>T (p.Thr2549Met) rs537292240
NM_001081.3(CUBN):c.7724C>G (p.Pro2575Arg) rs3740168
NM_001081.3(CUBN):c.7797C>G (p.Cys2599Trp) rs138758085
NM_001081.3(CUBN):c.7861dup (p.Tyr2621fs) rs1564415858
NM_001081.3(CUBN):c.7906C>T (p.Arg2636Ter)
NM_001081.3(CUBN):c.7955C>A (p.Ser2652Ter) rs1554790861
NM_001081.3(CUBN):c.8071G>A (p.Gly2691Arg)
NM_001081.3(CUBN):c.8203G>T (p.Asp2735Tyr) rs149802222
NM_001081.3(CUBN):c.8278A>G (p.Ile2760Val)
NM_001081.3(CUBN):c.8399C>T (p.Thr2800Ile) rs141737312
NM_001081.3(CUBN):c.8578T>G (p.Cys2860Gly)
NM_001081.3(CUBN):c.8671G>A (p.Val2891Ile) rs150488625
NM_001081.3(CUBN):c.8680C>G (p.Pro2894Ala)
NM_001081.3(CUBN):c.8711C>T (p.Ser2904Phe)
NM_001081.3(CUBN):c.8741C>T (p.Ala2914Val) rs45551835
NM_001081.3(CUBN):c.889C>T (p.Gln297Ter) rs386833791
NM_001081.3(CUBN):c.8902G>C (p.Glu2968Gln) rs45569534
NM_001081.3(CUBN):c.8943C>T (p.Gly2981=) rs767131065
NM_001081.3(CUBN):c.9053A>C (p.Tyr3018Ser) rs370778353
NM_001081.3(CUBN):c.9061G>A (p.Glu3021Lys) rs41289299
NM_001081.3(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444
NM_001081.3(CUBN):c.9166G>A (p.Ala3056Thr)
NM_001081.3(CUBN):c.9340G>A (p.Gly3114Ser) rs117035284
NM_001081.3(CUBN):c.9524C>A (p.Ser3175Ter) rs368697251
NM_001081.3(CUBN):c.9555T>G (p.Cys3185Trp)
NM_001081.3(CUBN):c.963C>T (p.Pro321=) rs150309054
NM_001081.3(CUBN):c.9922T>C (p.Trp3308Arg) rs752843169
NM_001081.3(CUBN):c.9949C>T (p.Gln3317Ter) rs1564379463
NM_001081.3(CUBN):c.9986C>T (p.Ser3329Leu) rs74431427
NM_001258392.3(CLPB):c.1003G>A (p.Glu335Lys) rs765777645
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile) rs786205137
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460
NM_001258392.3(CLPB):c.1167+5G>T rs1565424666
NM_001258392.3(CLPB):c.1215_1217inv (p.Glu405_Gly406delinsAspPro)
NM_001258392.3(CLPB):c.1253A>G (p.Asn418Ser) rs116118397
NM_001258392.3(CLPB):c.1292C>T (p.Pro431Leu)
NM_001258392.3(CLPB):c.1366T>C (p.Cys456Arg) rs886041118
NM_001258392.3(CLPB):c.1375G>A (p.Ala459Thr)
NM_001258392.3(CLPB):c.1408G>A (p.Asp470Asn)
NM_001258392.3(CLPB):c.1411G>A (p.Glu471Lys) rs748915609
NM_001258392.3(CLPB):c.1429C>T (p.Leu477=) rs77345581
NM_001258392.3(CLPB):c.1462C>T (p.Arg488Cys)
NM_001258392.3(CLPB):c.1474_1475delinsTG (p.Ala492Cys) rs1555085159
NM_001258392.3(CLPB):c.1482C>G (p.Asn494Lys)
NM_001258392.3(CLPB):c.1535A>T (p.Glu512Val) rs373383193
NM_001258392.3(CLPB):c.1546C>T (p.Arg516Cys)
NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp)
NM_001258392.3(CLPB):c.1579G>A (p.Glu527Lys)
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln)
NM_001258392.3(CLPB):c.1595del (p.Ile532fs) rs876657402
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001258392.3(CLPB):c.1682C>T (p.Ala561Val) rs748010262
NM_001258392.3(CLPB):c.1704G>A (p.Thr568=) rs141458508
NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys) rs786205138
NM_001258392.3(CLPB):c.1786-3C>T
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959
NM_001258392.3(CLPB):c.1825G>A (p.Glu609Lys) rs375934856
NM_001258392.3(CLPB):c.1847G>T (p.Gly616Val) rs759500860
NM_001258392.3(CLPB):c.1847dup (p.Cys617fs) rs886041119
NM_001258392.3(CLPB):c.1859G>A (p.Arg620His)
NM_001258392.3(CLPB):c.1859G>T (p.Arg620Leu) rs137882645
NM_001258392.3(CLPB):c.1860C>T (p.Arg620=) rs35401939
NM_001258392.3(CLPB):c.1955T>A (p.Ile652Asn) rs886041120
NM_001258392.3(CLPB):c.1958T>C (p.Ile653Thr)
NM_001258392.3(CLPB):c.1993C>T (p.Arg665Trp) rs141383303
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg)
NM_001258392.3(CLPB):c.247C>T (p.Leu83Phe)
NM_001258392.3(CLPB):c.260C>T (p.Thr87Ile) rs1424542665
NM_001258392.3(CLPB):c.347G>C (p.Cys116Ser)
NM_001258392.3(CLPB):c.359C>G (p.Ala120Gly) rs1565107812
NM_001258392.3(CLPB):c.370G>T (p.Val124Phe)
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile)
NM_001258392.3(CLPB):c.646+6T>C
NM_001258392.3(CLPB):c.646+7280C>T rs759358526
NM_001258392.3(CLPB):c.646+7281G>A rs150552809
NM_001258392.3(CLPB):c.646+7288G>A rs143097446
NM_001258392.3(CLPB):c.646+7291G>A
NM_001258392.3(CLPB):c.646+7323G>T
NM_001258392.3(CLPB):c.646+7335T>C
NM_001258392.3(CLPB):c.658C>T (p.Arg220Ter) rs777202372
NM_001258392.3(CLPB):c.680G>T (p.Arg227Met) rs1284671735
NM_001258392.3(CLPB):c.693C>T (p.Arg231=) rs149932193
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855
NM_001258392.3(CLPB):c.715G>A (p.Ala239Thr) rs886041117
NM_001258392.3(CLPB):c.725A>G (p.Tyr242Cys) rs777313457
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly)
NM_001258392.3(CLPB):c.764T>C (p.Leu255Pro) rs1555098495
NM_001258392.3(CLPB):c.776-10C>G rs141271919
NM_001258392.3(CLPB):c.794G>C (p.Arg265Thr) rs7938203
NM_001258392.3(CLPB):c.819G>C (p.Leu273Phe)
NM_001258392.3(CLPB):c.844A>G (p.Met282Val)
NM_001258392.3(CLPB):c.871A>T (p.Lys291Ter) rs786205139
NM_001258392.3(CLPB):c.889C>T (p.Arg297Trp) rs148534573
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly)
NM_001258392.3(CLPB):c.949A>G (p.Ile317Val)
NM_001258392.3(CLPB):c.983G>A (p.Gly328Asp) rs1565433670
NM_001258392.3(CLPB):c.989C>T (p.Ala330Val)
NM_001258392.3(CLPB):c.996G>A (p.Arg332=) rs146912721
NM_001698.2(AUH):c.(?_1)_(418_?)+1del
NM_001698.2(AUH):c.*107A>G rs75505223
NM_001698.2(AUH):c.*218_*219del rs1057515675
NM_001698.2(AUH):c.*259_*262del rs377176126
NM_001698.2(AUH):c.*29G>A rs200499826
NM_001698.2(AUH):c.*432C>T rs746233646
NM_001698.2(AUH):c.-30C>G rs1057515677
NM_001698.2(AUH):c.182C>A (p.Pro61His) rs181327211
NM_001698.2(AUH):c.211A>C (p.Met71Leu) rs756127206
NM_001698.2(AUH):c.263-2A>G rs730880311
NM_001698.2(AUH):c.304T>A (p.Ser102Thr) rs1554721818
NM_001698.2(AUH):c.331-6G>A rs10991898
NM_001698.2(AUH):c.373C>T (p.Arg125Trp) rs200030276
NM_001698.2(AUH):c.381A>G (p.Ile127Met) rs146227896
NM_001698.2(AUH):c.44T>A (p.Leu15Gln) rs757419657
NM_001698.2(AUH):c.483A>C (p.Ile161=) rs7874056
NM_001698.2(AUH):c.559G>A (p.Gly187Ser) rs387906755
NM_001698.2(AUH):c.589C>T (p.Arg197Ter) rs121434636
NM_001698.2(AUH):c.598+10A>C rs186203318
NM_001698.2(AUH):c.599-2A>G
NM_001698.2(AUH):c.650G>A (p.Gly217Asp) rs387906756
NM_001698.2(AUH):c.657G>A (p.Gly219=) rs141110052
NM_001698.2(AUH):c.678C>T (p.Arg226=) rs143768042
NM_001698.2(AUH):c.713T>C (p.Phe238Ser)
NM_001698.2(AUH):c.719C>T (p.Ala240Val) rs769894315
NM_001698.2(AUH):c.730G>A (p.Asp244Asn) rs202182817
NM_001698.2(AUH):c.77G>A (p.Cys26Tyr) rs74484860
NM_001698.2(AUH):c.791G>A (p.Gly264Glu) rs376821113
NM_001698.2(AUH):c.807G>A (p.Arg269=) rs145208407
NM_001698.2(AUH):c.80del (p.Ser27fs) rs730880310
NM_001698.2(AUH):c.84G>T (p.Ala28=) rs1057515676
NM_001698.2(AUH):c.895-1G>A rs730880309
NM_001698.2(AUH):c.942+4dup rs1554688047
NM_001698.2(AUH):c.943-2A>G rs730880312
NM_001698.2(AUH):c.951A>T (p.Pro317=) rs530710210
NM_001698.2(AUH):c.991A>T (p.Lys331Ter) rs387906757
NM_013247.4(HTRA2):c.728_730delinsCAT (p.Leu243_Pro244delinsProSer) rs1057519082
NM_013247.4(HTRA2):c.906+1G>C rs1057519081
NM_025136.3(OPA3):c.-47_-40delGCCCCGCC rs886054542
NM_025136.3(OPA3):c.-75G>A rs45598532
NM_025136.3(OPA3):c.-86G>A rs73570932
NM_025136.3(OPA3):c.-96A>G rs566870092
NM_030943.3(AMN):c.1006+16_1006+30del rs386834160
NM_030943.3(AMN):c.1006+34_1007-31del rs386834161
NM_030943.3(AMN):c.1006+36_1007-29del rs386834162
NM_030943.3(AMN):c.1014_1021del (p.Leu339fs) rs386834163
NM_030943.3(AMN):c.1170-6C>T rs386834164
NM_030943.3(AMN):c.1253dup (p.Leu419fs) rs386834165
NM_030943.3(AMN):c.1257+10C>T rs386834166
NM_030943.3(AMN):c.1312_1313CA[1] (p.His438fs) rs386834167
NM_030943.3(AMN):c.1343_1348dup (p.Gly448_Ala449dup) rs36040113
NM_030943.3(AMN):c.14del (p.Gly5fs) rs386834168
NM_030943.3(AMN):c.208-1G>C rs386834169
NM_030943.3(AMN):c.208-2A>G rs386834170
NM_030943.3(AMN):c.295+1del rs386834171
NM_030943.3(AMN):c.296-9C>T rs373204347
NM_030943.3(AMN):c.363G>A (p.Gly121=) rs141455061
NM_030943.3(AMN):c.400C>G (p.Arg134Gly) rs758317090
NM_030943.3(AMN):c.43+1G>T rs386834172
NM_030943.3(AMN):c.468dup (p.Gly157fs) rs386834173
NM_030943.3(AMN):c.514-34G>A rs144077391
NM_030943.3(AMN):c.663G>A (p.Trp221Ter) rs386834174
NM_030943.3(AMN):c.683_730del (p.Gln228_Leu243del) rs386834175
NM_030943.3(AMN):c.701G>T (p.Cys234Phe) rs386834176
NM_030943.3(AMN):c.735C>T (p.Pro245=) rs546245909
NM_030943.3(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_030943.3(AMN):c.760+1G>A rs1555381485
NM_030943.3(AMN):c.761G>A (p.Gly254Glu) rs386834178
NM_030943.3(AMN):c.829A>G (p.Thr277Ala) rs146499374
NM_030943.3(AMN):c.844-1G>C
NM_030943.3(AMN):c.974_977dup (p.Ala327fs) rs386834179
NM_030943.3(AMN):c.989C>A (p.Ala330Glu)
NM_032603.5(LOXL3):c.*682_*686del rs1057519080
NM_032603.5(LOXL3):c.*892C>T rs767006508
NM_032861.3(SERAC1):c.1167_1170del (p.Gln390Profs) rs772296795
NM_032861.4(SERAC1):c.1084A>T (p.Ile362Phe)
NM_032861.4(SERAC1):c.1403+1G>C rs1131690799
NM_032861.4(SERAC1):c.1432_1434CTT[1] (p.Leu479del) rs1199625391
NM_032861.4(SERAC1):c.1493G>C (p.Ser498Thr)
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu) rs1554261079
NM_032861.4(SERAC1):c.1626_1627CT[3] (p.Val544fs) rs767780913
NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs) rs761964407
NM_032861.4(SERAC1):c.1765G>A (p.Glu589Lys)
NM_032861.4(SERAC1):c.202C>T (p.Arg68Ter) rs529232938
NM_032861.4(SERAC1):c.262_265dup (p.Gly89fs) rs797045105
NM_032861.4(SERAC1):c.438del (p.Thr147fs)
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236
NM_032861.4(SERAC1):c.568C>T (p.Arg190Cys)
NM_032861.4(SERAC1):c.660A>G (p.Gln220=) rs776026202
NM_032861.4(SERAC1):c.674A>G (p.Glu225Gly)
NM_032861.4(SERAC1):c.91+6T>C rs1554265452
NM_032861.4(SERAC1):c.91A>G (p.Arg31Gly)
NM_032861.4(SERAC1):c.92-13_92-10del rs779302645
NM_032861.4(SERAC1):c.92-165C>T rs1562458862
NM_032861.4(SERAC1):c.92-239G>C rs1562458915
NM_145261.4(DNAJC19):c.*188G>A rs1051411
NM_145261.4(DNAJC19):c.*190_*193ATTA[1] rs886058203
NM_145261.4(DNAJC19):c.*212C>T rs190670376
NM_145261.4(DNAJC19):c.*325T>C rs886058202
NM_145261.4(DNAJC19):c.*365T>C rs143458718
NM_145261.4(DNAJC19):c.*441G>A rs1805635
NM_145261.4(DNAJC19):c.*488G>C rs576646391
NM_145261.4(DNAJC19):c.*516A>G rs762130203
NM_145261.4(DNAJC19):c.*528_*529GT[9] rs148074891
NM_145261.4(DNAJC19):c.*645A>C rs146964003
NM_145261.4(DNAJC19):c.*692T>C rs555888288
NM_145261.4(DNAJC19):c.-121C>T rs886058205
NM_145261.4(DNAJC19):c.-29G>T rs181271620
NM_145261.4(DNAJC19):c.118C>T (p.Leu40=) rs886058204
NM_145261.4(DNAJC19):c.129+15A>C rs201697391
NM_145261.4(DNAJC19):c.130-1G>C rs137854888
NM_145261.4(DNAJC19):c.1A>G (p.Met1Val) rs372756221
NM_145261.4(DNAJC19):c.281-12T>C rs141982712
NM_145261.4(DNAJC19):c.285A>C (p.Gly95=) rs17850540
NM_145261.4(DNAJC19):c.300del (p.Ala101fs) rs587777224
NM_145261.4(DNAJC19):c.59G>A (p.Arg20His) rs756192515
NM_145261.4(DNAJC19):c.62A>T (p.Tyr21Phe)
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=) rs142023670
TAZ, 1-BP DEL
TAZ, 1-BP INS, NT868
TAZ, IVS1DS, G-C, +5

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