ClinVar Miner

Variants with conflicting interpretations between Women's Health and Genetics/Laboratory Corporation of America, LabCorp and Counsyl

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
2529 506 1 496 5 0 34 536

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign
pathogenic 0 476 16 0
likely pathogenic 8 0 18 0
uncertain significance 0 0 1 1
likely benign 0 0 3 0
benign 0 0 1 12

All variants with conflicting interpretations #

Total variants: 536
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.1114dup (p.Ala372fs) rs1057516278
NM_000016.5(ACADM):c.387+1del rs786204424
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys) rs778906552
NM_000016.5(ACADM):c.583G>A (p.Gly195Arg) rs121434278
NM_000016.5(ACADM):c.999_1011dup (p.Gln338Ter) rs1225471006
NM_000018.2(ACADVL):c.343delG (p.Glu115Lysfs) rs387906249
NM_000018.4(ACADVL):c.1077+2T>C rs1057516370
NM_000018.4(ACADVL):c.1182+1G>A rs113690956
NM_000018.4(ACADVL):c.1679-6G>A rs113994171
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168
NM_000018.4(ACADVL):c.799_802del (p.Val267fs) rs761204548
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) rs753108198
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436
NM_000035.4(ALDOB):c.-11+1G>C rs181639417
NM_000035.4(ALDOB):c.10C>T (p.Arg4Ter) rs118204428
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.612T>A (p.Tyr204Ter) rs370793608
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286
NM_000048.4(ASL):c.299T>C (p.Ile100Thr) rs202142867
NM_000050.4(ASS1):c.970+5G>A rs372128852
NM_000051.3(ATM):c.1027_1030delGAAA rs587780612
NM_000051.3(ATM):c.1339C>T (p.Arg447Ter) rs587779815
NM_000051.3(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.2921+1G>A rs587781558
NM_000051.3(ATM):c.2T>C (p.Met1Thr) rs786203606
NM_000051.3(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833
NM_000051.3(ATM):c.4776+2T>A rs587781927
NM_000051.3(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.3(ATM):c.5320-5_5320-2del rs730881310
NM_000051.3(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.3(ATM):c.6347+1G>A rs1057517120
NM_000051.3(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.3(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.3(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.3(ATM):c.742C>T (p.Arg248Ter) rs730881336
NM_000051.3(ATM):c.7985T>A (p.Val2662Asp) rs863224463
NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) rs587782652
NM_000051.3(ATM):c.8266A>T (p.Lys2756Ter) rs371638537
NM_000051.3(ATM):c.8786+1G>A rs17174393
NM_000051.3(ATM):c.8814_8824del (p.Met2938fs) rs758814126
NM_000051.3(ATM):c.8876_8879del (p.Asp2959fs) rs786204726
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721
NM_000051.4(ATM):c.6997dup rs587781299
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter) rs778675259
NM_000053.4(ATP7B):c.1708-1G>C rs137853280
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer) rs1057516893
NM_000053.4(ATP7B):c.1739del (p.His580fs) rs1555293357
NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer) rs780327716
NM_000053.4(ATP7B):c.1946+6T>C rs751287778
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp) rs1394999756
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000053.4(ATP7B):c.2731-2A>G rs367956522
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452
NM_000053.4(ATP7B):c.2810del (p.Val937fs) rs1057516643
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp) rs779323689
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000053.4(ATP7B):c.3061-12T>A rs1045194246
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter) rs753236073
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe) rs1286080173
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) rs753250853
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) rs193922107
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe) rs776848753
NM_000053.4(ATP7B):c.51+4A>T rs369488210
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000055.4(BCHE):c.428G>A (p.Gly143Asp) rs201820739
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter) rs1057516964
NM_000057.4(BLM):c.1968dup (p.Lys657fs) rs772785079
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471
NM_000057.4(BLM):c.2407dup (p.Trp803fs) rs367543012
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121
NM_000057.4(BLM):c.772_773del (p.Leu258fs) rs367543013
NM_000086.2(CLN3):c.1001G>A (p.Arg334His) rs386833695
NM_000091.4(COL4A3):c.1216C>T (p.Arg406Ter) rs371334239
NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010
NM_000091.4(COL4A3):c.4486C>T (p.Arg1496Ter) rs769863513
NM_000110.3(DPYD):c.1475C>T (p.Ser492Leu) rs72549304
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) rs67376798
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947
NM_000137.3(FAH):c.1009G>A (p.Gly337Ser) rs80338900
NM_000137.3(FAH):c.1A>G (p.Met1Val) rs1057517972
NM_000137.3(FAH):c.520C>T (p.Arg174Ter) rs781496816
NM_000151.4(G6PC1):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565
NM_000151.4(G6PC1):c.161A>C (p.Gln54Pro) rs1057517008
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys) rs104894567
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys) rs104894563
NM_000151.4(G6PC1):c.980_982del (p.Phe327del) rs80356486
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.1115A>T (p.His372Leu) rs1057516520
NM_000152.5(GAA):c.1222A>G (p.Met408Val) rs560575383
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) rs759518659
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172
NM_000152.5(GAA):c.2140del (p.His714fs) rs786204549
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415
NM_000152.5(GAA):c.365del (p.Met122fs) rs786204661
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg) rs748573754
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626
NM_000153.4(GALC):c.1896_1900del (p.Thr633fs) rs749708827
NM_000153.4(GALC):c.205C>T (p.Arg69Ter) rs771111145
NM_000153.4(GALC):c.433dup (p.Thr145fs) rs1555383679
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052
NM_000153.4(GALC):c.850G>A (p.Gly284Ser) rs377274761
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983
NM_000153.4(GALC):c.908+1G>A rs750524447
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_000154.2(GALK1):c.1031C>T (p.Thr344Met) rs371517491
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.292G>A (p.Asp98Asn) rs111033670
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.379A>G (p.Lys127Glu) rs111033682
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694
NM_000155.4(GALT):c.610C>T (p.Arg204Ter) rs111033737
NM_000155.4(GALT):c.691C>T (p.Arg231Cys) rs111033749
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790
NM_000155.4(GALT):c.974C>T (p.Pro325Leu) rs111033794
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000159.4(GCDH):c.1173del (p.Asn392fs) rs754002357
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372
NM_000159.4(GCDH):c.572T>C (p.Met191Thr) rs149120354
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr) rs761765983
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000170.2(GLDC):c.1054del (p.Thr352fs) rs386833518
NM_000170.2(GLDC):c.1270C>T (p.Arg424Ter) rs386833521
NM_000170.2(GLDC):c.128del (p.Asp43fs) rs1251443902
NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.2(GLDC):c.2281G>A (p.Gly761Arg) rs386833549
NM_000170.2(GLDC):c.2614A>T (p.Lys872Ter) rs1430968530
NM_000170.2(GLDC):c.499G>T (p.Glu167Ter) rs191905539
NM_000170.2(GLDC):c.806C>T (p.Thr269Met) rs386833587
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter) rs1243779049
NM_000182.5(HADHA):c.1793_1794del (p.His598fs) rs769580842
NM_000182.5(HADHA):c.180+3A>G rs781222705
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer) rs779113356
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) rs781205883
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) rs137852775
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641
NM_000199.5(SGSH):c.268G>A (p.Gly90Arg) rs774010006
NM_000199.5(SGSH):c.449G>A (p.Arg150Gln) rs104894638
NM_000227.5(LAMA3):c.3001C>T (p.Arg1001Ter) rs768415785
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) rs201551805
NM_000243.2(MEFV):c.1894G>A (p.Gly632Ser) rs104895128
NM_000243.2(MEFV):c.1958G>A (p.Arg653His) rs104895085
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) rs778021009
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478
NM_000263.4(NAGLU):c.384-1G>A rs764134891
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) rs143124972
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter) rs786204455
NM_000271.5(NPC1):c.3591+1G>A rs786200877
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs) rs774943545
NM_000271.5(NPC1):c.395del (p.Pro132fs) rs1057516462
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs) rs886044580
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062
NM_000277.3(PAH):c.1066-3C>T rs62507344
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter) rs62516095
NM_000277.3(PAH):c.1089del (p.Lys363fs) rs5030654
NM_000277.3(PAH):c.1097C>A (p.Pro366His) rs62516098
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del) rs199475565
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys) rs62516141
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly) rs62508736
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1315+2T>C rs1799970
NM_000277.3(PAH):c.1A>G (p.Met1Val) rs62514891
NM_000277.3(PAH):c.204A>T (p.Arg68Ser) rs76394784
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.301G>A (p.Asp101Asn) rs1555207979
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796
NM_000277.3(PAH):c.441+1G>A rs62517166
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer) rs62642906
NM_000277.3(PAH):c.500A>T (p.Asn167Ile) rs77554925
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336
NM_000277.3(PAH):c.58C>T (p.Gln20Ter) rs199475585
NM_000277.3(PAH):c.592_613del (p.Tyr198fs) rs199475697
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer) rs62514936
NM_000277.3(PAH):c.733G>C (p.Val245Leu) rs62508694
NM_000277.3(PAH):c.740G>T (p.Gly247Val) rs199475579
NM_000277.3(PAH):c.770G>T (p.Gly257Val) rs62642908
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.806del (p.Ile269fs) rs62508687
NM_000277.3(PAH):c.833C>A (p.Thr278Asn) rs62507262
NM_000277.3(PAH):c.842+1G>A rs5030852
NM_000277.3(PAH):c.842+5G>A rs62516146
NM_000277.3(PAH):c.910C>T (p.Gln304Ter) rs1555204295
NM_000277.3(PAH):c.912+1G>A rs62514956
NM_000277.3(PAH):c.913-7A>G rs62517165
NM_000277.3(PAH):c.932T>C (p.Leu311Pro) rs62642936
NM_000277.3(PAH):c.941C>A (p.Pro314His) rs62642940
NM_000277.3(PAH):c.968_970del (p.Thr323del) rs199475618
NM_000282.4(PCCA):c.1746G>A (p.Ser582=) rs192171304
NM_000282.4(PCCA):c.229C>T (p.Arg77Trp) rs141371306
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_000303.3(PMM2):c.104T>A (p.Leu35Ter) rs1555448899
NM_000303.3(PMM2):c.131T>C (p.Val44Ala) rs104894534
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123
NM_000303.3(PMM2):c.255+2T>C rs139716296
NM_000303.3(PMM2):c.26G>A (p.Cys9Tyr) rs104894532
NM_000303.3(PMM2):c.324del (p.Ile110fs) rs1555449314
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr) rs150577656
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala) rs398123309
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.4(PPT1):c.541G>A rs148412181
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs) rs1554913069
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000360.4(TH):c.90+7dup rs780485650
NM_000370.3(TTPA):c.205-1G>C rs886040963
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) rs121917851
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs) rs767751416
NM_000382.3(ALDH3A2):c.471+1del
NM_000382.3(ALDH3A2):c.472-2A>G
NM_000382.3(ALDH3A2):c.901_903delinsCC (p.Ala301fs)
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532
NM_000391.4(TPP1):c.972_979del (p.Ser324fs) rs778232650
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter) rs751646311
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys) rs969485098
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000478.6(ALPL):c.46_49del (p.Asn16fs) rs1057516230
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475
NM_000487.6(ARSA):c.109_116del (p.Asp37fs) rs753415648
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del) rs765905826
NM_000487.6(ARSA):c.1344dup (p.Gly449fs) rs761555167
NM_000487.6(ARSA):c.304del (p.Leu102fs) rs786204673
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059
NM_000487.6(ARSA):c.418dup (p.His140fs) rs745884435
NM_000487.6(ARSA):c.769G>C (p.Asp257His) rs80338819
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter) rs551472773
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter) rs1375757476
NM_000492.3(CFTR):c.1209+18A>C rs193922499
NM_000492.3(CFTR):c.1400T>C (p.Leu467Pro) rs139573311
NM_000492.3(CFTR):c.1475C>T (p.Ser492Phe) rs121909017
NM_000492.3(CFTR):c.1666A>G (p.Ile556Val) rs75789129
NM_000492.3(CFTR):c.1673T>C (p.Leu558Ser) rs193922504
NM_000492.3(CFTR):c.1679G>A (p.Arg560Lys) rs80055610
NM_000492.3(CFTR):c.1826A>G (p.His609Arg) rs397508310
NM_000492.3(CFTR):c.2353C>T (p.Arg785Ter) rs374946172
NM_000492.3(CFTR):c.2554dup (p.Tyr852fs) rs1057517068
NM_000492.3(CFTR):c.2780T>C (p.Leu927Pro) rs397508435
NM_000492.3(CFTR):c.2907A>C (p.Ala969=) rs377502207
NM_000492.3(CFTR):c.2909-15T>G rs397508455
NM_000492.3(CFTR):c.293A>G (p.Gln98Arg) rs397508464
NM_000492.3(CFTR):c.3139+8A>G rs193922517
NM_000492.3(CFTR):c.3139_3139+1del rs397508505
NM_000492.3(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.3(CFTR):c.4077_4080delinsAA (p.Val1360fs) rs397508668
NM_000492.3(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585
NM_000492.3(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.3(CFTR):c.595C>T (p.His199Tyr) rs121908802
NM_000492.3(CFTR):c.850dup (p.Met284fs) rs786204693
NM_000492.3(CFTR):c.935_937delTCT (p.Phe312del) rs121908768
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.4(CFTR):c.1367T>C rs193922500
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.1A>G (p.Met1Val) rs397508328
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) rs121908803
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter) rs193922532
NM_000518.5(HBB):c.230del (p.Ala77fs) rs281864901
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.92+5G>A rs33915217
NM_000520.5(HEXA):c.-207-2357_253+5128delinsG
NM_000520.6(HEXA):c.1123del (p.Glu375fs) rs766138785
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter) rs988192535
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter) rs121907963
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) rs121907966
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) rs786204585
NM_000520.6(HEXA):c.346+1G>C rs797044432
NM_000520.6(HEXA):c.460-1G>T rs764343937
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) rs121907957
NM_000520.6(HEXA):c.672+1G>A rs387906311
NM_000520.6(HEXA):c.986+3A>G rs200926928
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter) rs1554034452
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) rs121907983
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042
NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter) rs786204715
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=) rs1008745697
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000532.5(PCCB):c.1316A>G (p.Tyr439Cys) rs769521436
NM_000532.5(PCCB):c.1540C>T (p.Arg514Ter) rs749908889
NM_000532.5(PCCB):c.562G>A (p.Gly188Arg) rs746102997
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) rs572246667
NM_000543.5(SMPD1):c.1092-1G>C rs398123474
NM_000543.5(SMPD1):c.1111_1112del (p.Leu371fs) rs786204514
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs) rs786204694
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
NM_000642.3(AGL):c.100C>T (p.Arg34Ter) rs781580050
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.1735+1G>T rs199922945
NM_000642.3(AGL):c.2309-1G>A rs786204481
NM_000642.3(AGL):c.2929C>T (p.Arg977Ter) rs531425980
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.4260-12A>G rs369973784
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244
NM_000642.3(AGL):c.664+3A>G rs370792293
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met) rs398123490
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818
NM_001024688.2(NBN):c.896del (p.Pro299fs) rs587781969
NM_001048171.1(MUTYH):c.1435G>T (p.Val479Phe) rs587782228
NM_001048171.1(MUTYH):c.267G>A (p.Trp89Ter) rs748170941
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001163817.2(DHCR7):c.89G>C (p.Gly30Ala) rs200334114
NM_001164277.1(SLC37A4):c.572C>T (p.Pro191Leu) rs193302888
NM_001164277.1(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543
NM_001351834.2(ATM):c.1402_1403del (p.Lys468fs) rs587781347
NM_001351834.2(ATM):c.5290del (p.Leu1764fs) rs587779846
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter) rs1393866282
NM_001352514.2(HLCS):c.1960+5G>A rs753887925
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001360.2(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696
NM_001360.2(DHCR7):c.1348del (p.Arg450fs) rs886042362
NM_001360.2(DHCR7):c.292C>T (p.Gln98Ter) rs104886039
NM_001360.2(DHCR7):c.385_412+5del rs746482788
NM_001360.2(DHCR7):c.440G>A (p.Gly147Asp) rs777425801
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) rs143312232
NM_001360.2(DHCR7):c.461C>T (p.Thr154Met) rs143312232
NM_001360.2(DHCR7):c.841G>A (p.Val281Met) rs398123607
NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg) rs142808899
NM_001467.6(SLC37A4):c.344_345dup (p.Leu116fs) rs782604758
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter) rs202107577
NM_002485.4(NBN):c.2117C>G (p.Ser706Ter) rs730881857
NM_002691.4(POLD1):c.1138-8A>G rs41544624
NM_002691.4(POLD1):c.17G>A (p.Arg6Gln) rs778275831
NM_002691.4(POLD1):c.2007-4G>A rs202035484
NM_002691.4(POLD1):c.2429C>T (p.Ala810Val) rs765981178
NM_002691.4(POLD1):c.3218+10A>G rs2463239
NM_002691.4(POLD1):c.3218+9_3218+10inv
NM_002691.4(POLD1):c.463+8G>T rs1726802
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys) rs72552734
NM_003060.4(SLC22A5):c.1556_1559dup (p.Ile521fs) rs386134225
NM_003060.4(SLC22A5):c.394-16T>A rs775097754
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558
NM_003060.4(SLC22A5):c.43G>T (p.Gly15Trp) rs267607052
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp) rs121908890
NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln) rs121908889
NM_003060.4(SLC22A5):c.64TTC[1] (p.Phe23del) rs377767444
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482
NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter) rs386134212
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004360.5(CDH1):c.382del (p.His128fs) rs1555514492
NM_004360.5(CDH1):c.715G>A (p.Gly239Arg) rs587780537
NM_004646.3(NPHS1):c.1379G>A (p.Arg460Gln) rs386833880
NM_004646.3(NPHS1):c.139del (p.Ala47fs) rs386833882
NM_004646.3(NPHS1):c.1701C>A (p.Cys567Ter) rs386833887
NM_004646.3(NPHS1):c.2928G>T (p.Arg976Ser) rs138656762
NM_004646.3(NPHS1):c.3442C>T (p.Gln1148Ter) rs150855173
NM_004646.3(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004646.3(NPHS1):c.565G>T (p.Glu189Ter) rs139598219
NM_004646.3(NPHS1):c.619del (p.Arg207fs) rs778217926
NM_005562.3(LAMC2):c.1065C>G (p.Tyr355Ter) rs118203899
NM_005562.3(LAMC2):c.667C>T (p.Arg223Ter) rs753268823
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006231.3(POLE):c.2468+10C>T rs5744823
NM_006231.3(POLE):c.2561+6T>C rs116231808
NM_006231.3(POLE):c.6418G>A (p.Glu2140Lys) rs5745066
NM_006231.3(POLE):c.6494G>A (p.Arg2165His) rs5745068
NM_006231.3(POLE):c.776G>A (p.Arg259His) rs61732929
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_012222.2(MUTYH):c.725G>A (p.Arg242His) rs140342925
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs) rs386833988
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs) rs1234745577
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer) rs386833992
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156
NM_014363.4(SACS):c.7276C>T rs786204750
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter) rs780247476
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter) rs565203731
NM_014363.6(SACS):c.6172del (p.Ser2058fs) rs1214399996
NM_014363.6(SACS):c.814C>T (p.Arg272Cys) rs374128662
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014625.3(NPHS2):c.503G>A (p.Arg168His) rs530318579
NM_014625.3(NPHS2):c.643C>T (p.Gln215Ter) rs778055996
NM_014625.3(NPHS2):c.714G>T (p.Arg238Ser) rs748812981
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs) rs1553162923
NM_015506.3(MMACHC):c.565del (p.Arg189fs) rs1257204721
NM_017890.4(VPS13B):c.2889G>A (p.Trp963Ter) rs386834078
NM_017890.4(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080
NM_017890.4(VPS13B):c.436C>T (p.Arg146Ter) rs144539572
NM_017890.4(VPS13B):c.4471G>T (p.Glu1491Ter) rs120074151
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_017890.4(VPS13B):c.8515C>T (p.Arg2839Ter) rs386834113
NM_018941.3(CLN8):c.610C>T (p.Arg204Cys) rs104894060
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter) rs121908373
NM_020533.3(MCOLN1):c.920del (p.Leu307fs) rs755042147
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter) rs121908371
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444
NM_031885.4(BBS2):c.1864C>T (p.Arg622Ter) rs201196733
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_033056.4(PCDH15):c.7C>T (p.Arg3Ter) rs137853001
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter) rs786204537
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter) rs121908645
NM_054012.4(ASS1):c.892del (p.Glu298fs) rs770362721
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs) rs771623148
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter) rs199839578
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys) rs1554144226
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs) rs1057516804
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter) rs398124503
NM_144696.6(AXDND1):c.3032-1907G>A rs74315348
NM_144696.6(AXDND1):c.3032-1911A>T rs967339926
NM_152564.4(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs) rs386834067
NM_174878.3(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_183050.4(BCKDHB):c.1149T>A (p.Tyr383Ter) rs190867671
NM_183050.4(BCKDHB):c.633+1G>T rs398124589
NM_183050.4(BCKDHB):c.799C>T (p.Gln267Ter) rs398124594
NR_003051.3(RMRP):n.-22_-3dup rs1554651411
NR_003051.3(RMRP):n.-24_-18dup rs1554651543
NR_003051.3(RMRP):n.-7_1dup rs752934195
NR_003051.3(RMRP):n.147G>A rs753874439
NR_003051.3(RMRP):n.64C>T rs786204684

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