ClinVar Miner

Variants with conflicting interpretations between EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and Illumina Clinical Services Laboratory,Illumina

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
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
9555 669 0 267 184 2 24 471

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 benign
pathogenic 0 5 9 4 1
likely pathogenic 4 0 4 2 0
uncertain significance 1 3 0 62 18
likely benign 1 0 46 0 15
benign 0 0 58 243 0
other 0 0 1 1 0

All variants with conflicting interpretations #

Total variants: 471
Download table as spreadsheet
HGVS dbSNP
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000070.3(CAPN3):c.1029+3A>G rs28364442
NM_000070.3(CAPN3):c.2380+12del rs28364538
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496
NM_000086.2(CLN3):c.313A>G (p.Ile105Val) rs11552531
NM_000086.2(CLN3):c.768C>T (p.Thr256=) rs145967477
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000137.3(FAH):c.296A>G (p.Asp99Gly) rs547847694
NM_000141.5(FGFR2):c.1572A>G (p.Thr524=) rs74160613
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250
NM_000186.3(CFH):c.3133+4C>G rs374729595
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu) rs201785359
NM_000214.3(JAG1):c.1755C>T (p.Asn585=) rs142808131
NM_000214.3(JAG1):c.1806C>T (p.His602=) rs764290237
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756
NM_000214.3(JAG1):c.2304C>T (p.Cys768=) rs755427292
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000214.3(JAG1):c.2917-7G>A rs201573066
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=) rs754593633
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr) rs150811951
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met) rs148373907
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu) rs775363555
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=) rs542831744
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260
NM_000231.2(SGCG):c.-6T>C rs141771521
NM_000231.2(SGCG):c.832G>A (p.Gly278Ser) rs147820869
NM_000231.3(SGCG):c.*13C>T rs9510701
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986
NM_000232.4(SGCB):c.31C>T (p.Gln11Ter) rs752492870
NM_000232.4(SGCB):c.799C>T (p.Arg267Cys) rs200761715
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000257.4(MYH7):c.1000-7C>T rs200129563
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000280.4(PAX6):c.1137A>C (p.Thr379=) rs143477661
NM_000283.3(PDE6B):c.1401+7_1401+8insA rs537010934
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000306.4(POU1F1):c.666-5G>A rs76296626
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743
NM_000325.6(PITX2):c.639A>T (p.Ser213=) rs141176394
NM_000325.6(PITX2):c.819G>A (p.Pro273=) rs148191851
NM_000326.5(RLBP1):c.346+3_346+8del rs56307321
NM_000327.3(ROM1):c.868del (p.Gln290fs) rs548233813
NM_000337.5(SGCD):c.15G>C (p.Glu5Asp) rs549319429
NM_000337.5(SGCD):c.213G>A (p.Arg71=) rs74846539
NM_000337.5(SGCD):c.290G>A (p.Arg97Gln) rs45559835
NM_000337.5(SGCD):c.294+8T>C rs11748588
NM_000337.5(SGCD):c.510G>A (p.Glu170=) rs368838376
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831
NM_000350.3(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.3(ABCA4):c.1653G>A (p.Val551=) rs61753963
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=) rs147884766
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.3(ABCA4):c.5836-11G>A rs1800739
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359
NM_000350.3(ABCA4):c.6282+7G>A rs17110761
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000363.5(TNNI3):c.273G>A (p.Ala91=) rs75491697
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525
NM_000426.3(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923
NM_000426.3(LAMA2):c.1701C>T (p.Ile567=) rs111381107
NM_000426.3(LAMA2):c.1798G>A (p.Gly600Arg) rs36044314
NM_000426.3(LAMA2):c.2304C>T (p.Asp768=) rs142126511
NM_000426.3(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866
NM_000426.3(LAMA2):c.411G>A (p.Ala137=) rs149347601
NM_000426.3(LAMA2):c.4437-5T>A rs41285288
NM_000426.3(LAMA2):c.4470C>T (p.Asp1490=) rs35089085
NM_000426.3(LAMA2):c.4750G>A (p.Gly1584Ser) rs117781224
NM_000426.3(LAMA2):c.4935C>A (p.Thr1645=) rs35579821
NM_000426.3(LAMA2):c.5072-6del rs398123376
NM_000426.3(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000426.3(LAMA2):c.5633C>T (p.Ser1878Phe) rs139586720
NM_000426.3(LAMA2):c.5688C>T (p.His1896=) rs573779258
NM_000426.3(LAMA2):c.6150T>C (p.Asp2050=) rs114766691
NM_000426.3(LAMA2):c.675C>T (p.Ala225=) rs139665175
NM_000426.3(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843
NM_000426.3(LAMA2):c.8548-10T>C rs113644365
NM_000426.3(LAMA2):c.8982T>C (p.Asp2994=) rs79374915
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) rs6234
NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) rs6235
NM_000492.3(CFTR):c.*1043A>C rs10234329
NM_000492.3(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.3(CFTR):c.1365G>A (p.Ala455=) rs79074685
NM_000492.3(CFTR):c.1666A>G (p.Ile556Val) rs75789129
NM_000492.3(CFTR):c.221G>A (p.Arg74Gln) rs142540482
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs1800103
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112
NM_000492.3(CFTR):c.374T>C (p.Ile125Thr) rs141723617
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4242+10T>C rs138642693
NM_000492.3(CFTR):c.4272C>T (p.Tyr1424=) rs1800135
NM_000492.3(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_000492.4(CFTR):c.-8G>C rs1800501
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.1210-11T>G rs73715573
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000515.5(GH1):c.116C>T (p.Ala39Val) rs151263636
NM_000515.5(GH1):c.150C>A (p.Ala50=) rs61735359
NM_000515.5(GH1):c.152T>A (p.Phe51Tyr) rs61735357
NM_000515.5(GH1):c.406G>A (p.Val136Ile) rs5388
NM_000515.5(GH1):c.7A>G (p.Thr3Ala) rs2001345
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000601.6(HGF):c.910G>A (p.Glu304Lys) rs5745687
NM_000939.4(POMC):c.280AGCAGCGGC[3] (p.94SSG[3]) rs10654394
NM_000942.4(PPIB):c.-171C>T rs112481305
NM_001003679.3(LEPR):c.1968G>C (p.Lys656Asn) rs1805094
NM_001029883.3(PCARE):c.3669-2AGC[4]
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.123-6_123-5dup rs148086540
NM_001083961.2(WDR62):c.1233+15dup rs373693641
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) rs185594460
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904
NM_001101426.4(CRPPA):c.360C>T (p.Val120=) rs183141256
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) rs558064127
NM_001101426.4(CRPPA):c.836-19dup rs3839757
NM_001101426.4(CRPPA):c.876A>G (p.Glu292=) rs371300262
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356
NM_001130987.2(DYSF):c.1276+11C>T rs35982795
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=) rs148697028
NM_001130987.2(DYSF):c.1577-1635C>G rs76402294
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) rs116204385
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=) rs143475751
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=) rs544993852
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852
NM_001130987.2(DYSF):c.6321+15C>T rs2559082
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229
NM_001130987.2(DYSF):c.888+11T>C rs13428076
NM_001130987.2(DYSF):c.951+4T>C rs11903960
NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del) rs536788112
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458
NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala) rs188353745
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947
NM_001195248.2(APTX):c.762G>A (p.Pro254=) rs571475924
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr) rs79544660
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=) rs3848618
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) rs56726774
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) rs58824375
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[8] rs71393436
NM_001267550.2(TTN):c.40408+7_40408+10dup rs397517560
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) rs371802557
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) rs186234393
NM_001271208.2(NEB):c.17635-3del rs3214503
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001278074.1(COL5A1):c.1077G>A (p.Glu359=) rs201166370
NM_001278074.1(COL5A1):c.240C>T (p.Asp80=) rs79724538
NM_001278074.1(COL5A1):c.3069C>T (p.Pro1023=) rs139070070
NM_001278074.1(COL5A1):c.378G>T (p.Gln126His) rs145178917
NM_001278074.1(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195
NM_001278074.1(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_001278074.1(COL5A1):c.573C>T (p.Leu191=) rs116715381
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929
NM_001297.5(CNGB1):c.1089GGA[6] (p.Glu371dup) rs141566950
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.1975-3del rs35888674
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) rs149707354
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=) rs187558439
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001457.4(FLNB):c.1044C>T (p.Asp348=) rs111996979
NM_001457.4(FLNB):c.1946G>A (p.Arg649Gln) rs145910735
NM_001457.4(FLNB):c.2382C>T (p.Asp794=) rs146159035
NM_001457.4(FLNB):c.3090C>T (p.Tyr1030=) rs112968165
NM_001457.4(FLNB):c.3264C>T (p.Ser1088=) rs112864468
NM_001457.4(FLNB):c.4872C>T (p.Ile1624=) rs147426569
NM_001457.4(FLNB):c.6047G>A (p.Arg2016Gln) rs137885421
NM_001457.4(FLNB):c.6642C>T (p.Phe2214=) rs140786324
NM_001457.4(FLNB):c.6684C>T (p.Ile2228=) rs138416613
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr) rs116826041
NM_001457.4(FLNB):c.7254C>T (p.Ser2418=) rs563382903
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) rs140985224
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser) rs145042175
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896
NM_001844.5(COL2A1):c.2095-4G>A rs111570218
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=) rs145884117
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=) rs139114389
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp) rs201646745
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416
NM_001844.5(COL2A1):c.507C>T (p.Pro169=) rs143851987
NM_001844.5(COL2A1):c.709-8G>T rs200757693
NM_001844.5(COL2A1):c.798G>A (p.Arg266=) rs376753701
NM_001854.4(COL11A1):c.652-18dup rs36076089
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918
NM_001927.4(DES):c.924C>T (p.Asn308=) rs578191306
NM_002471.3(MYH6):c.3979-7del rs397516766
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804
NM_002474.3(MYH11):c.5172-14C>T rs34839877
NM_002693.2(POLG):c.1174C>G (p.Leu392Val) rs145289229
NM_002693.2(POLG):c.1743C>T (p.Asp581=) rs140743000
NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) rs200257554
NM_002693.2(POLG):c.2246T>C (p.Phe749Ser) rs202037973
NM_002693.2(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.2(POLG):c.2735-7C>G rs200372494
NM_002693.2(POLG):c.2853C>T (p.Tyr951=) rs41546712
NM_002693.2(POLG):c.3105-11T>C rs2302084
NM_002693.2(POLG):c.3198G>A (p.Thr1066=) rs61752780
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401
NM_002778.4(PSAP):c.1351-14A>G rs4747203
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003282.4(TNNI2):c.54G>C (p.Leu18=) rs181679318
NM_003283.6(TNNT1):c.35A>G (p.Glu12Gly) rs112562759
NM_003680.3(YARS1):c.510+10G>C rs201272488
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) rs148076109
NM_003722.5(TP63):c.504C>T (p.Asn168=) rs141278696
NM_003722.5(TP63):c.678C>T (p.Arg226=) rs61732782
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser) rs9878928
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) rs111326315
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys) rs147192139
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284
NM_004278.4(PIGL):c.424C>A (p.Leu142Met) rs115958467
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del) rs138827116
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254
NM_004820.5(CYP7B1):c.260-15dup rs8192896
NM_005045.4(RELN):c.1290-11dup rs146986040
NM_005045.4(RELN):c.5211-25dup rs34125550
NM_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832
NM_005476.7(GNE):c.1281+6A>T rs201025841
NM_005476.7(GNE):c.1770C>T (p.Tyr590=) rs111302956
NM_005476.7(GNE):c.1872G>A (p.Ala624=) rs145361930
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_006005.3(WFS1):c.114C>T (p.Ser38=) rs531593902
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) rs138232538
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797
NM_006005.3(WFS1):c.1674C>T (p.Arg558=) rs61735402
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr) rs140125843
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=) rs71530911
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) rs71578980
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945
NM_006017.3(PROM1):c.2374-5dup rs34269395
NM_006158.4(NEFL):c.1170-13T>C rs76347846
NM_006158.4(NEFL):c.667C>T (p.Leu223=) rs60156239
NM_006416.5(SLC35A1):c.887-14T>C rs56136150
NM_006493.2(CLN5):c.49G>C (p.Gly17Arg) rs202118652
NM_006493.4(CLN5):c.-76A>G rs7987664
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471
NM_006790.2(MYOT):c.1008G>T (p.Val336=) rs142828368
NM_006790.2(MYOT):c.149A>G (p.Gln50Arg) rs34717730
NM_006790.2(MYOT):c.343G>T (p.Ala115Ser) rs114194130
NM_006790.2(MYOT):c.533G>A (p.Arg178His) rs150293853
NM_006790.2(MYOT):c.617G>A (p.Gly206Asp) rs151094883
NM_006996.3(SLC19A2):c.1080T>C (p.Thr360=) rs3737682
NM_006996.3(SLC19A2):c.1322T>C (p.Ile441Thr) rs17847484
NM_007078.3(LDB3):c.690-4A>G rs45529531
NM_007254.4(PNKP):c.1189-10del rs3739205
NM_012452.2(TNFRSF13B):c.605G>A (p.Arg202His) rs104894649
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912
NM_014249.4(NR2E3):c.419A>G (p.Glu140Gly) rs1805020
NM_014249.4(NR2E3):c.488T>C (p.Met163Thr) rs1805021
NM_014249.4(NR2E3):c.900G>A (p.Thr300=) rs184906734
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020
NM_014336.5(AIPL1):c.277-10A>C rs12453262
NM_014336.5(AIPL1):c.300A>G (p.Leu100=) rs8075035
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017
NM_014874.3(MFN2):c.1452G>A (p.Thr484=) rs150043585
NM_014874.3(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.3(MFN2):c.2146G>A (p.Ala716Thr) rs144860227
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240
NM_015192.4(PLCB1):c.2967G>A (p.Thr989=) rs45464693
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543
NM_017739.3(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254
NM_017739.3(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066
NM_017739.3(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973
NM_017739.3(POMGNT1):c.236-13T>C rs150578902
NM_017739.3(POMGNT1):c.301G>A (p.Val101Ile) rs150576537
NM_018451.5(CENPJ):c.2992-17dup rs35599563
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr) rs115852080
NM_021728.4(OTX2):c.*10G>A rs171978
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=) rs114827737
NM_022124.6(CDH23):c.6713-8G>A rs369946986
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021
NM_022356.3(P3H1):c.1473+5G>T rs114044880
NM_022356.3(P3H1):c.327C>T (p.Phe109=) rs370773974
NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) rs2075164
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys) rs199933282
NM_022970.3(FGFR2):c.159G>A (p.Ala53=) rs1047102
NM_022970.3(FGFR2):c.170C>T (p.Ser57Leu) rs56226109
NM_022970.3(FGFR2):c.294G>A (p.Thr98=) rs1047101
NM_024022.2(TMPRSS3):c.617-3_617-2dup rs34966432
NM_024529.4(CDC73):c.-4dup rs545666726
NM_024809.5(TCTN2):c.1506-2A>G rs374349989
NM_025114.4(CEP290):c.4437+1G>A rs760915898
NM_025265.4(TSEN2):c.870A>G (p.Pro290=) rs542708828
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr) rs1043424
NM_032667.6(BSCL2):c.908C>T (p.Pro303Leu) rs144245125
NM_033100.4(CDHR1):c.2434C>T (p.Pro812Ser) rs45584033
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_058246.4(DNAJB6):c.279C>T (p.Phe93=) rs149278319
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=) rs117237998
NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu) rs528009333
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) rs146093235
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=) rs151098305
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) rs145343609
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp) rs141430703
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del) rs376040866
NM_138959.3(VANGL1):c.435T>C (p.Cys145=) rs34768472
NM_144599.5(NIPA1):c.24GGC[10] (p.Ala15_Ala16dup) rs531550505
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del) rs531550505
NM_145861.3(EDARADD):c.60G>A (p.Glu20=) rs60808129
NM_152299.4(NCAPH2):c.*274G>T rs112793292
NM_153427.2(PITX2):c.46+8C>G rs199896960
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552
NM_182961.4(SYNE1):c.25119+1G>A rs1164612098
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198506.5(LRIT3):c.1184CTT[1] (p.Ser396del) rs794727660
NM_198506.5(LRIT3):c.1509G>A (p.Thr503=) rs76587489
NM_198506.5(LRIT3):c.331C>G (p.Arg111Gly) rs79039619
NM_198506.5(LRIT3):c.565C>T (p.Leu189Phe) rs75301950
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_203288.2(RP9):c.664del (p.Ter222AspextTer?) rs553265417
NM_207346.3(TSEN54):c.1120C>G (p.Arg374Gly) rs201351319
NM_207352.4(CYP4V2):c.802-8_810delinsGC rs207482233
NM_213599.2(ANO5):c.2176dup (p.Ser726fs) rs797044667
NM_213599.2(ANO5):c.2256G>A (p.Thr752=) rs144048656
NM_213599.2(ANO5):c.2387C>T (p.Ser796Leu) rs61910685
NM_213599.2(ANO5):c.2498T>A (p.Met833Lys) rs142073798
NM_213599.2(ANO5):c.2521C>G (p.His841Asp) rs781027702
NM_213599.2(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213599.2(ANO5):c.2698A>C (p.Met900Leu) rs148293985
NM_213599.2(ANO5):c.364-8del rs146983312
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951
NM_213674.1(TPM2):c.772+995dup rs35401252
Single allele

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