ClinVar Miner

List of variants reported as pathogenic by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 438
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_030653.4(DDX11):c.1763-1G>C rs148856317 0.00024
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_000352.6(ABCC8):c.3989-9G>A rs151344623 0.00019
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293 0.00004
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 0.00003
NM_000143.4(FH):c.698G>A (p.Arg233His) rs121913123 0.00003
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861 0.00003
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter) rs786204491 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_000143.4(FH):c.1020T>A (p.Asn340Lys) rs398123159 0.00001
NM_000143.4(FH):c.1189G>A (p.Gly397Arg) rs863224007 0.00001
NM_000143.4(FH):c.1255T>C (p.Ser419Pro) rs200004220 0.00001
NM_000143.4(FH):c.301C>T (p.Arg101Ter) rs121913120 0.00001
NM_000143.4(FH):c.553_554insTG (p.Gln185fs) rs768182640 0.00001
NM_000143.4(FH):c.560C>G (p.Ser187Ter) rs398123166 0.00001
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup) rs757650373 0.00001
NM_000551.4(VHL):c.292T>C (p.Tyr98His) rs5030809 0.00001
NM_000551.4(VHL):c.499C>T (p.Arg167Trp) rs5030820 0.00001
NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter) rs886040888 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_144672.4(OTOA):c.755G>A (p.Trp252Ter) rs879255431 0.00001
NM_144997.7(FLCN):c.1579_1580insA (p.Arg527fs) rs753009073 0.00001
NM_144997.7(FLCN):c.779+1G>T rs758175953 0.00001
NC_000002.12:g.(?_144388714)_(144520303_?)del
NC_000023.11:g.(?_18625128)_(18628587_?)del
NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly) rs1057519042
NM_000141.5(FGFR2):c.1012G>C (p.Gly338Arg) rs1057519043
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) rs1057519044
NM_000141.5(FGFR2):c.1018T>C (p.Tyr340His) rs121918489
NM_000141.5(FGFR2):c.1021A>C (p.Thr341Pro) rs121918495
NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser) rs121918488
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) rs121918488
NM_000141.5(FGFR2):c.1024T>G (p.Cys342Gly) rs121918488
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser) rs121918487
NM_000141.5(FGFR2):c.1025G>T (p.Cys342Phe) rs121918487
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) rs121918491
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) rs121918494
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys) rs121918502
NM_000141.5(FGFR2):c.1061C>G (p.Ser354Cys) rs121918490
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro) rs121918505
NM_000141.5(FGFR2):c.826T>G (p.Phe276Val) rs1057519036
NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe) rs776587763
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) rs121918497
NM_000141.5(FGFR2):c.868T>C (p.Trp290Arg) rs121918501
NM_000141.5(FGFR2):c.868T>G (p.Trp290Gly) rs121918501
NM_000141.5(FGFR2):c.869G>C (p.Trp290Ser) rs1057519039
NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys) rs121918499
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys) rs121918499
NM_000141.5(FGFR2):c.923A>G (p.Tyr308Cys) rs1057519040
NM_000141.5(FGFR2):c.940-2A>G rs1057519041
NM_000141.5(FGFR2):c.962A>C (p.Asp321Ala) rs121918510
NM_000141.5(FGFR2):c.983A>G (p.Tyr328Cys) rs121918493
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000143.4(FH):c.1027C>T (p.Arg343Ter) rs121913122
NM_000143.4(FH):c.1041del (p.Gly348fs) rs1060499641
NM_000143.4(FH):c.1063G>T (p.Glu355Ter) rs1060499642
NM_000143.4(FH):c.1083_1086del (p.Glu362fs) rs756469140
NM_000143.4(FH):c.1093A>G (p.Ser365Gly) rs863223966
NM_000143.4(FH):c.1118A>G (p.Asn373Ser) rs1060499643
NM_000143.4(FH):c.1126C>T (p.Gln376Ter) rs398123160
NM_000143.4(FH):c.1138dup (p.Met380fs) rs781466938
NM_000143.4(FH):c.1209del (p.Phe403fs) rs1060499644
NM_000143.4(FH):c.1293del (p.Glu432fs) rs398123163
NM_000143.4(FH):c.1298_1340dup (p.Met449fs) rs1553340681
NM_000143.4(FH):c.133-1G>A rs863224011
NM_000143.4(FH):c.139C>T (p.Gln47Ter) rs863223980
NM_000143.4(FH):c.1500G>A (p.Trp500Ter) rs886039368
NM_000143.4(FH):c.157G>T (p.Glu53Ter) rs863224013
NM_000143.4(FH):c.239dup (p.Ile81fs) rs1553341942
NM_000143.4(FH):c.267+1G>C rs878853691
NM_000143.4(FH):c.267+1_267+10del rs1060499629
NM_000143.4(FH):c.320A>C (p.Asn107Thr) rs121913121
NM_000143.4(FH):c.322C>T (p.Gln108Ter) rs1060499630
NM_000143.4(FH):c.395_399del (p.Lys131_Leu132insTer) rs863223995
NM_000143.4(FH):c.395del (p.Lys131_Leu132insTer) rs1060499631
NM_000143.4(FH):c.439dup (p.Thr147fs) rs1060499633
NM_000143.4(FH):c.524del (p.Val175fs) rs1060499634
NM_000143.4(FH):c.556-2A>T rs750273092
NM_000143.4(FH):c.722_738+3del rs1064792900
NM_000143.4(FH):c.808del (p.Tyr270fs) rs1060499637
NM_000143.4(FH):c.912_918del (p.Phe305fs) rs794727836
NM_000143.4(FH):c.952C>T (p.His318Tyr) rs398123168
NM_000147.5(FUCA1):c.1082G>A (p.Trp361Ter) rs864309551
NM_000352.6(ABCC8):c.2695-2A>T rs863225278
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000352.6(ABCC8):c.4456_4457del (p.Arg1486fs) rs863225279
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys) rs137852671
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000352.6(ABCC8):c.72C>A (p.Asn24Lys) rs771075821
NM_000546.5:c.-28_672dup
NM_000546.6(TP53):c.331_365dup (p.Thr123fs) rs1597373467
NM_000551.4(VHL):c.163dup (p.Glu55fs) rs869025615
NM_000551.4(VHL):c.164_171dup (p.Arg60fs) rs886041345
NM_000551.4(VHL):c.189_192del (p.Arg64_Ser65insTer) rs869025647
NM_000551.4(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.4(VHL):c.194C>A (p.Ser65Ter) rs5030826
NM_000551.4(VHL):c.194C>G (p.Ser65Trp) rs5030826
NM_000551.4(VHL):c.203C>A (p.Ser68Ter) rs869025617
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.208G>T (p.Glu70Ter) rs5030802
NM_000551.4(VHL):c.217C>T (p.Gln73Ter) rs869025619
NM_000551.4(VHL):c.221del (p.Val74fs) rs869025620
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.232A>C (p.Asn78His) rs869025621
NM_000551.4(VHL):c.232A>G (p.Asn78Asp) rs869025621
NM_000551.4(VHL):c.233A>G (p.Asn78Ser) rs5030804
NM_000551.4(VHL):c.233A>T (p.Asn78Ile) rs5030804
NM_000551.4(VHL):c.233del (p.Asn78fs) rs1559425925
NM_000551.4(VHL):c.239G>T (p.Ser80Ile) rs5030805
NM_000551.4(VHL):c.239_261del (p.Ser80fs) rs1559425951
NM_000551.4(VHL):c.245G>C (p.Arg82Pro) rs794726890
NM_000551.4(VHL):c.250G>C (p.Val84Leu) rs5030827
NM_000551.4(VHL):c.250G>T (p.Val84Leu) rs5030827
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.4(VHL):c.257C>T (p.Pro86Leu) rs730882034
NM_000551.4(VHL):c.258del (p.Val87fs) rs864622545
NM_000551.4(VHL):c.258dup (p.Val87fs) rs864622545
NM_000551.4(VHL):c.262T>A (p.Trp88Arg) rs1553619431
NM_000551.4(VHL):c.263G>A (p.Trp88Ter) rs119103277
NM_000551.4(VHL):c.266T>C (p.Leu89Pro) rs5030807
NM_000551.4(VHL):c.269del (p.Asn90fs) rs869025623
NM_000551.4(VHL):c.277G>A (p.Gly93Ser) rs5030808
NM_000551.4(VHL):c.277G>T (p.Gly93Cys) rs5030808
NM_000551.4(VHL):c.278G>A (p.Gly93Asp) rs1553619440
NM_000551.4(VHL):c.278del (p.Gly93fs) rs1131690964
NM_000551.4(VHL):c.280G>T (p.Glu94Ter) rs5030829
NM_000551.4(VHL):c.292_295del (p.Tyr98fs) rs1559426095
NM_000551.4(VHL):c.293A>G (p.Tyr98Cys) rs864321643
NM_000551.4(VHL):c.293dup (p.Tyr98Ter) rs869025624
NM_000551.4(VHL):c.294C>G (p.Tyr98Ter) rs1559426115
NM_000551.4(VHL):c.296dup (p.Thr100fs) rs869025625
NM_000551.4(VHL):c.300dup (p.Leu101fs) rs869025626
NM_000551.4(VHL):c.304_305dup (p.Pro103fs) rs1559426145
NM_000551.4(VHL):c.309del (p.Gly104fs) rs869025627
NM_000551.4(VHL):c.309dup (p.Gly104fs) rs869025628
NM_000551.4(VHL):c.320G>C (p.Arg107Pro) rs193922609
NM_000551.4(VHL):c.332G>A (p.Ser111Asn) rs869025631
NM_000551.4(VHL):c.334T>A (p.Tyr112Asn) rs104893824
NM_000551.4(VHL):c.334T>C (p.Tyr112His) rs104893824
NM_000551.4(VHL):c.335_340+5del rs869025632
NM_000551.4(VHL):c.337C>T (p.Arg113Ter) rs5030810
NM_000551.4(VHL):c.340+1G>A rs730882032
NM_000551.4(VHL):c.340+2_340+6del rs869025634
NM_000551.4(VHL):c.340G>C (p.Gly114Arg) rs869025636
NM_000551.4(VHL):c.341-2A>G rs869025637
NM_000551.4(VHL):c.346dup (p.Leu116fs) rs1559428051
NM_000551.4(VHL):c.350G>A (p.Trp117Ter) rs1559428056
NM_000551.4(VHL):c.351G>T (p.Trp117Cys) rs727504215
NM_000551.4(VHL):c.351del (p.Trp117fs) rs869025640
NM_000551.4(VHL):c.352_353insA (p.Leu118fs) rs869025641
NM_000551.4(VHL):c.357C>G (p.Phe119Leu) rs1559428077
NM_000551.4(VHL):c.362A>G (p.Asp121Gly) rs5030832
NM_000551.4(VHL):c.374A>C (p.His125Pro) rs869025643
NM_000551.4(VHL):c.374_375del (p.His125fs) rs869025644
NM_000551.4(VHL):c.381del (p.Leu128fs) rs1559428107
NM_000551.4(VHL):c.388G>C (p.Val130Leu) rs104893830
NM_000551.4(VHL):c.393_394dup (p.Gln132fs) rs1559428128
NM_000551.4(VHL):c.394C>T (p.Gln132Ter) rs5030813
NM_000551.4(VHL):c.397del (p.Thr133fs) rs1559428134
NM_000551.4(VHL):c.402del (p.Glu134fs) rs869025646
NM_000551.4(VHL):c.413del (p.Pro138fs) rs1559428164
NM_000551.4(VHL):c.419_420del (p.Leu140fs) rs869025649
NM_000551.4(VHL):c.431del (p.Gly144fs) rs869025651
NM_000551.4(VHL):c.433C>T (p.Gln145Ter) rs749704215
NM_000551.4(VHL):c.433_439del (p.Gln145fs) rs1559428217
NM_000551.4(VHL):c.435_436del (p.Gln145fs) rs869025652
NM_000551.4(VHL):c.444del (p.Phe148fs) rs869025653
NM_000551.4(VHL):c.444dup (p.Ala149fs) rs869025653
NM_000551.4(VHL):c.445G>A (p.Ala149Thr) rs587780077
NM_000551.4(VHL):c.445G>T (p.Ala149Ser) rs587780077
NM_000551.4(VHL):c.445dup (p.Ala149fs) rs1559428232
NM_000551.4(VHL):c.449del (p.Asn150fs) rs794727253
NM_000551.4(VHL):c.452T>G (p.Ile151Ser) rs869025655
NM_000551.4(VHL):c.454_463+17del rs869025656
NM_000551.4(VHL):c.462del (p.Val155fs) rs1559428267
NM_000551.4(VHL):c.463+1G>C rs869025657
NM_000551.4(VHL):c.464-1G>A rs5030817
NM_000551.4(VHL):c.464-1G>C rs5030817
NM_000551.4(VHL):c.464-1G>T rs5030817
NM_000551.4(VHL):c.464-2A>G rs5030816
NM_000551.4(VHL):c.467A>G (p.Tyr156Cys) rs397516441
NM_000551.4(VHL):c.470C>T (p.Thr157Ile) rs869025660
NM_000551.4(VHL):c.473T>C (p.Leu158Pro) rs121913346
NM_000551.4(VHL):c.477del (p.Glu160fs) rs730882020
NM_000551.4(VHL):c.477dup (p.Glu160fs) rs730882020
NM_000551.4(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.4(VHL):c.482G>A (p.Arg161Gln) rs730882035
NM_000551.4(VHL):c.484T>C (p.Cys162Arg) rs1553620313
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr) rs397516444
NM_000551.4(VHL):c.485G>T (p.Cys162Phe) rs397516444
NM_000551.4(VHL):c.486C>G (p.Cys162Trp) rs5030622
NM_000551.4(VHL):c.491A>G (p.Gln164Arg) rs267607170
NM_000551.4(VHL):c.497T>A (p.Val166Asp) rs397516445
NM_000551.4(VHL):c.497T>C (p.Val166Ala) rs397516445
NM_000551.4(VHL):c.499C>G (p.Arg167Gly) rs5030820
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs) rs398123483
NM_000551.4(VHL):c.509T>A (p.Val170Asp) rs864321642
NM_000551.4(VHL):c.526del (p.Arg176fs) rs1559429711
NM_000551.4(VHL):c.529A>T (p.Arg177Ter) rs1559429717
NM_000551.4(VHL):c.533T>A (p.Leu178Gln) rs5030822
NM_000551.4(VHL):c.533T>C (p.Leu178Pro) rs5030822
NM_000551.4(VHL):c.533T>G (p.Leu178Arg) rs5030822
NM_000551.4(VHL):c.533_534del (p.Leu178fs) rs1559429736
NM_000551.4(VHL):c.548C>A (p.Ser183Ter) rs5030823
NM_000551.4(VHL):c.555C>G (p.Tyr185Ter) rs864622109
NM_000551.4(VHL):c.586A>T (p.Lys196Ter) rs281860296
NM_000834.5(GRIN2B):c.2430C>A (p.Ser810Arg) rs864309560
NM_000901.5(NR3C2):c.1409C>A (p.Ser470Ter) rs879255348
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001110792.2(MECP2):c.319_322del (p.Tyr107fs) rs1557137776
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.784dup (p.Arg262fs) rs61749752
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys) rs796052973
NM_001197104.2(KMT2A):c.6329C>G (p.Ser2110Ter) rs864309569
NM_001253852.3(AP4B1):c.114-2A>C rs879255396
NM_001253852.3(AP4B1):c.530_531insA (p.Asn178fs) rs879255397
NM_001256789.3(CACNA1F):c.4690G>T (p.Glu1564Ter) rs879255389
NM_001282534.2(KCNK9):c.706G>A (p.Gly236Arg) rs121908332
NM_001323289.2(CDKL5):c.1897C>T (p.Gln633Ter) rs863225065
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter) rs886040872
NM_001378743.1(CYLD):c.1327C>T (p.Gln443Ter) rs764952788
NM_001378743.1(CYLD):c.1363C>T (p.Gln455Ter) rs886040873
NM_001378743.1(CYLD):c.1537dup (p.Cys513fs) rs886040874
NM_001378743.1(CYLD):c.1599dup (p.Val534fs) rs886040875
NM_001378743.1(CYLD):c.1658_1661del (p.Asn553fs) rs886040876
NM_001378743.1(CYLD):c.1771A>T (p.Lys591Ter) rs886040879
NM_001378743.1(CYLD):c.1950-2_1953del rs886040882
NM_001378743.1(CYLD):c.2108G>A (p.Arg703Lys) rs886040884
NM_001378743.1(CYLD):c.2138_2139dup (p.Phe714fs) rs886040885
NM_001378743.1(CYLD):c.2242-2A>G rs886040886
NM_001378743.1(CYLD):c.2291_2295del (p.Lys764fs) rs886040887
NM_001378743.1(CYLD):c.2350+1G>T rs886040890
NM_001378743.1(CYLD):c.2390_2391del (p.Met796_Tyr797insTer) rs886040891
NM_001378743.1(CYLD):c.2406_2407del (p.Cys802_Tyr803delinsTer) rs886040892
NM_001378743.1(CYLD):c.2515del (p.Ser839fs) rs886040893
NM_001378743.1(CYLD):c.2569C>T (p.Gln857Ter) rs886040894
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter) rs121908390
NM_001378743.1(CYLD):c.831_834del (p.Asp277fs) rs886040868
NM_001378743.1(CYLD):c.911dup (p.Ala305fs) rs886040869
NM_001378743.1(CYLD):c.968_977del (p.Ser323fs) rs886040870
NM_001378743.1(CYLD):c.987_988dup (p.Gly330fs) rs886040871
NM_001904.4(CTNNB1):c.1867C>T (p.Gln623Ter) rs864309577
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002049.4(GATA1):c.115_116insGGGGCTTGGATGCAGCAGCTTCCTGCACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCCTG (p.Glu39delinsGlyGlyLeuAspAlaAlaAlaSerCysThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaTer) rs2062673859
NM_002049.4(GATA1):c.142_149dup (p.Ser51fs) rs2062673949
NM_002049.4(GATA1):c.151_186delinsT (p.Ser51fs) rs2062674043
NM_002049.4(GATA1):c.159_171dup (p.Ala58fs) rs2062674122
NM_002049.4(GATA1):c.175_193dup (p.Asp65fs) rs2062674253
NM_002049.4(GATA1):c.219A>G (p.Pro73=) rs2062674480
NM_002049.4(GATA1):c.219del (p.Val74fs) rs2062674491
NM_002049.4(GATA1):c.49_50del (p.Gln17fs) rs2062673530
NM_002049.4(GATA1):c.4dup (p.Glu2fs) rs2062673272
NM_002049.4(GATA1):c.89C>G (p.Ser30Ter) rs1557020021
NM_002250.3(KCNN4):c.1055G>A (p.Arg352His) rs774455945
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003688.3:c.116_117delCA
NM_004004.5(GJB2):c.[134G>A;408C>A]
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala) rs113994088
NM_004304.5(ALK):c.3520T>A (p.Phe1174Ile) rs281864719
NM_004304.5(ALK):c.3520T>C (p.Phe1174Leu) rs281864719
NM_004304.5(ALK):c.3520T>G (p.Phe1174Val) rs281864719
NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu) rs863225281
NM_004304.5(ALK):c.3522C>G (p.Phe1174Leu) rs863225281
NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro) rs113994089
NM_004304.5(ALK):c.3733T>A (p.Phe1245Ile) rs281864720
NM_004304.5(ALK):c.3734T>G (p.Phe1245Cys) rs863225283
NM_004304.5(ALK):c.3735C>A (p.Phe1245Leu) rs863225284
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_004304.5(ALK):c.3833A>C (p.Tyr1278Ser) rs863225285
NM_004429.5(EFNB1):c.561del (p.Asn187fs) rs1057519035
NM_004560.4(ROR2):c.355C>T (p.Arg119Ter) rs121909087
NM_004992.3(MECP2):c.[1155_1200del;987_988del]
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005859.5(PURA):c.509_515del (p.Ile170fs) rs879255390
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer) rs786200959
NM_014795.4(ZEB2):c.2365del (p.Ser789fs) rs786203992
NM_014795.4(ZEB2):c.2398dup (p.Ser800fs) rs786203990
NM_014795.4(ZEB2):c.3544del (p.Glu1182fs) rs786203991
NM_014795.4(ZEB2):c.808-1G>T rs786203993
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter) rs587784571
NM_015335.5(MED13L):c.5444del (p.Thr1815fs) rs879255407
NM_016239.4(MYO15A):c.2984_2991del (p.Glu995fs) rs864309607
NM_017780.4(CHD7):c.1073del (p.Gly358fs) rs886040980
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) rs587783429
NM_017780.4(CHD7):c.2215G>T (p.Glu739Ter) rs886040981
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs) rs886040982
NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter) rs886040983
NM_017780.4(CHD7):c.3071dup (p.Leu1025fs) rs886040984
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.3526C>T (p.Gln1176Ter) rs886040986
NM_017780.4(CHD7):c.3572_3573del (p.Lys1191fs) rs886040987
NM_017780.4(CHD7):c.3674dup (p.Asn1225fs) rs886040989
NM_017780.4(CHD7):c.3811_3814del (p.Glu1271fs) rs886040990
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017780.4(CHD7):c.3964del (p.Leu1322fs) rs879255410
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter) rs886040991
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.4837_4838del (p.Leu1613fs) rs886040992
NM_017780.4(CHD7):c.496C>T (p.Gln166Ter) rs886040978
NM_017780.4(CHD7):c.5235_5236dup (p.Tyr1746fs) rs886040994
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5833C>T (p.Arg1945Ter) rs757160222
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.6148C>T (p.Arg2050Ter) rs886040996
NM_017780.4(CHD7):c.7282dup (p.Arg2428fs) rs886040997
NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter) rs886040998
NM_017780.4(CHD7):c.8730_8731del (p.Pro2911fs) rs886041000
NM_017780.4(CHD7):c.8962dup (p.Asp2988fs) rs771806027
NM_023067.4(FOXL2):c.1011del (p.Thr338fs) rs1057516185
NM_023067.4(FOXL2):c.15C>A (p.Tyr5Ter) rs1057516139
NM_023067.4(FOXL2):c.171C>G (p.Tyr57Ter) rs1057516141
NM_023067.4(FOXL2):c.173C>A (p.Ser58Ter) rs1057516142
NM_023067.4(FOXL2):c.205G>T (p.Glu69Ter) rs387906920
NM_023067.4(FOXL2):c.293G>A (p.Trp98Ter) rs1057516150
NM_023067.4(FOXL2):c.338del (p.Ile113fs) rs1057516158
NM_023067.4(FOXL2):c.353_476dup (p.His159fs) rs1553752890
NM_023067.4(FOXL2):c.43del (p.Leu15fs) rs1057516140
NM_023067.4(FOXL2):c.576dup (p.Lys193fs) rs1057516161
NM_023067.4(FOXL2):c.582C>G (p.Tyr194Ter) rs1057516163
NM_023067.4(FOXL2):c.612G>A (p.Trp204Ter) rs1057516164
NM_023067.4(FOXL2):c.618del (p.Pro207fs) rs1057516165
NM_023067.4(FOXL2):c.630_651dup (p.Cys218fs) rs1057516166
NM_023067.4(FOXL2):c.632C>A (p.Ser211Ter) rs1057516167
NM_023067.4(FOXL2):c.644A>G (p.Tyr215Cys) rs1057516168
NM_023067.4(FOXL2):c.655C>T (p.Gln219Ter) rs104893741
NM_023067.4(FOXL2):c.662_689del (p.Ala221fs) rs1057516170
NM_023067.4(FOXL2):c.663_692dup (p.Ala225_Ala234dup) rs764243782
NM_023067.4(FOXL2):c.672_701dup (p.Ala225_Ala234dup) rs387906321
NM_023067.4(FOXL2):c.674_695del (p.Ala225fs) rs1057516172
NM_023067.4(FOXL2):c.674_703dup (p.Ala225_Ala234dup) rs1057516173
NM_023067.4(FOXL2):c.678_705del (p.Ala227fs) rs1057516174
NM_023067.4(FOXL2):c.748_749del (p.Gly250fs) rs1057516175
NM_023067.4(FOXL2):c.777dup (p.Arg260fs) rs1057516176
NM_023067.4(FOXL2):c.804del (p.Gly269fs) rs797044528
NM_023067.4(FOXL2):c.804dup (p.Gly269fs) rs797044528
NM_023067.4(FOXL2):c.827dup (p.Leu277fs) rs1057516178
NM_023067.4(FOXL2):c.840_871del (p.Ala283fs) rs1057516179
NM_023067.4(FOXL2):c.841_857dup (p.Pro287fs) rs797044529
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs) rs672601359
NM_023067.4(FOXL2):c.854del (p.Pro285fs) rs797044531
NM_023067.4(FOXL2):c.855_871dup (p.His291fs) rs797044532
NM_023067.4(FOXL2):c.856_857delinsA (p.Pro286fs) rs1057516180
NM_023067.4(FOXL2):c.892dup (p.His298fs) rs1057516181
NM_023067.4(FOXL2):c.907_926dup (p.His312fs) rs1057516182
NM_023067.4(FOXL2):c.951_961dup (p.Gln321fs) rs1057516183
NM_023067.4(FOXL2):c.982del (p.Ala328fs) rs1057516184
NM_130838.2(UBE3A):c.[255_259del;269del]
NM_130839.5(UBE3A):c.1472_1476del (p.Leu490_Tyr491insTer) rs863225068
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup) rs398124510
NM_144997.7(FLCN):c.1036_1043del (p.Phe346fs) rs879255670
NM_144997.7(FLCN):c.1098G>A (p.Trp366Ter) rs879255672
NM_144997.7(FLCN):c.1124_1139del (p.Ile375fs) rs879255673
NM_144997.7(FLCN):c.1252del (p.Leu418fs) rs864622651
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1286dup (p.His429fs) rs879255675
NM_144997.7(FLCN):c.1300+1G>A rs879255676
NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs) rs879255677
NM_144997.7(FLCN):c.1389C>A (p.Tyr463Ter) rs137852929
NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter) rs137852929
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) rs879255678
NM_144997.7(FLCN):c.1432+1G>A rs755959303
NM_144997.7(FLCN):c.1487_1490dup (p.Asp498fs) rs879255679
NM_144997.7(FLCN):c.1528del (p.Glu510fs) rs879255680
NM_144997.7(FLCN):c.1532G>A (p.Trp511Ter) rs879255682
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter) rs398124530
NM_144997.7(FLCN):c.235_238del (p.Ser79fs) rs750146811
NM_144997.7(FLCN):c.250-1G>A rs786202081
NM_144997.7(FLCN):c.250-2A>G rs398124533
NM_144997.7(FLCN):c.296del (p.Asp99fs) rs398124534
NM_144997.7(FLCN):c.319_320delinsCAC (p.Val107fs) rs398124535
NM_144997.7(FLCN):c.346C>T (p.Gln116Ter) rs398124536
NM_144997.7(FLCN):c.3G>C (p.Met1Ile) rs879255658
NM_144997.7(FLCN):c.453del (p.Phe152fs) rs879255660
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter) rs587782069
NM_144997.7(FLCN):c.584del (p.Gly195fs) rs878855217
NM_144997.7(FLCN):c.59del (p.Phe20fs) rs876658390
NM_144997.7(FLCN):c.610_611delinsTA (p.Ala204Ter) rs398124538
NM_144997.7(FLCN):c.632_633delinsC (p.Glu211fs) rs879255661
NM_144997.7(FLCN):c.634C>T (p.Gln212Ter) rs558699420
NM_144997.7(FLCN):c.735_738del (p.Ser246fs) rs879255662
NM_144997.7(FLCN):c.752G>A (p.Trp251Ter) rs879255663
NM_144997.7(FLCN):c.851del (p.Val284fs) rs879255666
NM_144997.7(FLCN):c.853C>T (p.Gln285Ter) rs879255667
NM_144997.7(FLCN):c.875T>G (p.Leu292Ter) rs879255668
NM_144997.7(FLCN):c.890_893del (p.Glu297fs) rs398124541
NM_144997.7(FLCN):c.927_954dup (p.Gly319fs) rs398124542
NM_144997.7(FLCN):c.927dup (p.Ala310fs) rs879255669
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser) rs864309572
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_198156.3(VHL):c.341-3273del rs869025638
NM_201384.3(PLEC):c.13297A>T (p.Lys4433Ter) rs864309634
NM_201384.3(PLEC):c.5932G>T (p.Glu1978Ter) rs864309635
inv(16)(p13.3q24.3)
t(11;12)(p15;p13)
t(11;17)(q23;q12-q21)
t(16;16)(p13.3;q24.3)

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