ClinVar Miner

List of variants reported as likely pathogenic by Center for Human Genetics, Inc

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 393
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HGVS dbSNP
NM_000038.6(APC):c.1246dup (p.Tyr416fs) rs1060503366
NM_000038.6(APC):c.2434_2443delinsCC (p.Asp812fs) rs1554084159
NM_000038.6(APC):c.835-4T>G rs756807560
NM_000051.3(ATM):c.1065+1G>T rs201089102
NM_000051.3(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000088.3(COL1A1):c.1691G>A (p.Arg564His) rs1800211
NM_000088.3(COL1A1):c.3245del (p.Gly1082fs) rs1555572161
NM_000089.3(COL1A2):c.433-3T>G rs1554395470
NM_000090.3(COL3A1):c.1744G>T (p.Gly582Cys) rs121912923
NM_000090.3(COL3A1):c.2752G>A (p.Gly918Arg) rs1085307896
NM_000093.4(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022
NM_000093.4(COL5A1):c.841del (p.Glu281fs) rs1554787779
NM_000115.5(EDNRB):c.550T>C (p.Ser184Pro) rs1555290659
NM_000138.4(FBN1):c.1468+5G>A rs397515757
NM_000138.4(FBN1):c.188A>G (p.Tyr63Cys) rs1303389437
NM_000138.4(FBN1):c.2051G>T (p.Cys684Phe) rs1555399763
NM_000138.4(FBN1):c.2118_2127del (p.Glu706fs) rs1555399482
NM_000138.4(FBN1):c.2714del (p.Gly905fs) rs1555399089
NM_000138.4(FBN1):c.3157T>G (p.Cys1053Gly) rs1555398667
NM_000138.4(FBN1):c.3518A>C (p.Asn1173Thr) rs1555398520
NM_000138.4(FBN1):c.3558C>G (p.Tyr1186Ter) rs1555398510
NM_000138.4(FBN1):c.3617G>A (p.Gly1206Asp) rs1555398409
NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.4(FBN1):c.3945del (p.Gly1316fs) rs1555398144
NM_000138.4(FBN1):c.3947_3948delinsT (p.Gly1316fs) rs1555398139
NM_000138.4(FBN1):c.3974A>C (p.Glu1325Ala) rs794728331
NM_000138.4(FBN1):c.3993del (p.His1331fs) rs1555397736
NM_000138.4(FBN1):c.4056del (p.Trp1354fs) rs1555397713
NM_000138.4(FBN1):c.4337-2A>G rs794728216
NM_000138.4(FBN1):c.4538G>A (p.Cys1513Tyr) rs1555397204
NM_000138.4(FBN1):c.4577_4578GT[1] (p.Cys1526_Val1527insTer) rs1555397197
NM_000138.4(FBN1):c.4943-1G>A rs1555396863
NM_000138.4(FBN1):c.503G>T (p.Cys168Phe) rs1555404803
NM_000138.4(FBN1):c.5065+1G>T rs1296209846
NM_000138.4(FBN1):c.5179del (p.Arg1727fs) rs1555396765
NM_000138.4(FBN1):c.5296+6T>C rs1555396629
NM_000138.4(FBN1):c.5416T>C (p.Cys1806Arg) rs1555396419
NM_000138.4(FBN1):c.5626T>C (p.Cys1876Arg) rs1555395980
NM_000138.4(FBN1):c.5919dup (p.Ile1974fs) rs1555395670
NM_000138.4(FBN1):c.6080del (p.Gly2027fs) rs1555395480
NM_000138.4(FBN1):c.6244G>T (p.Glu2082Ter) rs1052480459
NM_000138.4(FBN1):c.6705del (p.Tyr2236fs) rs1555394900
NM_000138.4(FBN1):c.6927del (p.Asn2309fs) rs1555394633
NM_000138.4(FBN1):c.7205-2A>C rs1555394450
NM_000138.4(FBN1):c.7800C>G (p.Tyr2600Ter) rs1404133653
NM_000138.4(FBN1):c.8250_8251TG[3] (p.Ser2752Ter) rs1555393565
NM_000138.4(FBN1):c.959_960AC[1] (p.Thr321fs) rs1555401002
NM_000141.4(FGFR2):c.1477G>T (p.Gly493Trp) rs1554917471
NM_000141.4(FGFR2):c.2021C>T (p.Ala674Val) rs1554907337
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000244.3(MEN1):c.1064+2T>C rs1555164946
NM_000244.3(MEN1):c.113C>T (p.Ser38Phe) rs794728616
NM_000244.3(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_000248.3(MITF):c.409_410delinsCC (p.Leu137Pro) rs1553702406
NM_000248.3(MITF):c.632T>C (p.Leu211Pro) rs1553704097
NM_000248.3(MITF):c.710+4A>C rs1553704850
NM_000248.3(MITF):c.763C>T (p.Arg255Ter) rs1057517966
NM_000249.3(MLH1):c.1633dup (p.Thr545fs) rs1553658104
NM_000249.3(MLH1):c.2070_2071insTT (p.Ile691fs) rs876659681
NM_000249.3(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000267.3(NF1):c.1063-1G>C rs1555610955
NM_000267.3(NF1):c.1073_1074insA (p.Phe358fs) rs1555610971
NM_000267.3(NF1):c.1077del (p.Pro360fs) rs1555610972
NM_000267.3(NF1):c.1104_1107del (p.Gln369fs) rs1555610984
NM_000267.3(NF1):c.1245del (p.Arg416fs) rs1555611098
NM_000267.3(NF1):c.1393-1G>C rs1131691131
NM_000267.3(NF1):c.1393-2A>G rs1555612266
NM_000267.3(NF1):c.1413_1414delinsT (p.Lys471fs) rs1555612273
NM_000267.3(NF1):c.1490del (p.Val497fs) rs1555612286
NM_000267.3(NF1):c.1496T>G (p.Leu499Arg) rs1555612288
NM_000267.3(NF1):c.1527+2T>C rs1064796700
NM_000267.3(NF1):c.1598T>G (p.Val533Gly) rs1555612857
NM_000267.3(NF1):c.1607C>G (p.Ser536Ter) rs1555612859
NM_000267.3(NF1):c.1641+2T>C rs1555612867
NM_000267.3(NF1):c.1660C>T (p.Gln554Ter) rs953440640
NM_000267.3(NF1):c.1845+2T>C rs1555613430
NM_000267.3(NF1):c.1846C>T (p.Gln616Ter) rs1555613543
NM_000267.3(NF1):c.188del (p.Lys63fs) rs1555604939
NM_000267.3(NF1):c.2035dup (p.Ile679fs) rs1555613773
NM_000267.3(NF1):c.2163T>A (p.Cys721Ter) rs1555613816
NM_000267.3(NF1):c.2187dup (p.Asn730Ter) rs1555613821
NM_000267.3(NF1):c.2252-1G>T rs587781577
NM_000267.3(NF1):c.2252-2A>G rs1131691105
NM_000267.3(NF1):c.2269A>T (p.Lys757Ter) rs1270674587
NM_000267.3(NF1):c.2288T>G (p.Leu763Arg) rs199474762
NM_000267.3(NF1):c.2309_2315dup (p.Asn773fs) rs1555613926
NM_000267.3(NF1):c.2325G>A (p.Glu775=) rs1555613932
NM_000267.3(NF1):c.2552del (p.Cys851fs) rs1555614260
NM_000267.3(NF1):c.2560C>T (p.Gln854Ter) rs1555614261
NM_000267.3(NF1):c.2665dup (p.Thr889fs) rs886041348
NM_000267.3(NF1):c.2739dup (p.Arg914fs) rs1555614319
NM_000267.3(NF1):c.2842dup (p.Gln948fs) rs1555614354
NM_000267.3(NF1):c.2846dup (p.Gln950fs) rs1555614358
NM_000267.3(NF1):c.2873_2877delinsTGG (p.Thr958fs) rs1555614426
NM_000267.3(NF1):c.2876_2877insG (p.Phe960fs) rs1555614429
NM_000267.3(NF1):c.2990+5G>A rs1555614464
NM_000267.3(NF1):c.2991-2A>C rs1555614495
NM_000267.3(NF1):c.2T>A (p.Met1Lys) rs886041346
NM_000267.3(NF1):c.3113+2T>G rs876658997
NM_000267.3(NF1):c.3114-1G>A rs1555614611
NM_000267.3(NF1):c.3124del (p.Met1041_Val1042insTer) rs1555614624
NM_000267.3(NF1):c.3251C>T (p.Pro1084Leu) rs1164081667
NM_000267.3(NF1):c.3288_3294dup (p.Lys1099fs) rs1555614862
NM_000267.3(NF1):c.3313A>T (p.Lys1105Ter) rs1555614867
NM_000267.3(NF1):c.3318C>A (p.Tyr1106Ter) rs876659289
NM_000267.3(NF1):c.3324_3325del (p.Leu1109fs) rs1555614918
NM_000267.3(NF1):c.3357del (p.Val1120fs) rs1555614934
NM_000267.3(NF1):c.3427C>T (p.His1143Tyr) rs1555614963
NM_000267.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_000267.3(NF1):c.3586C>G (p.Leu1196Val) rs1555615039
NM_000267.3(NF1):c.3708+3A>T rs1555615114
NM_000267.3(NF1):c.3787_3788insT (p.Lys1263fs) rs1555615467
NM_000267.3(NF1):c.3791_3801del (p.Glu1264fs) rs1555615469
NM_000267.3(NF1):c.3864T>A (p.Cys1288Ter) rs1555615495
NM_000267.3(NF1):c.4076_4077insA (p.Gln1360fs) rs1555617364
NM_000267.3(NF1):c.4120C>T (p.Gln1374Ter) rs1555618494
NM_000267.3(NF1):c.4168C>G (p.Leu1390Val) rs199474789
NM_000267.3(NF1):c.4267A>C (p.Lys1423Gln) rs137854550
NM_000267.3(NF1):c.4269+2T>C rs786204207
NM_000267.3(NF1):c.4269G>A (p.Lys1423=) rs199474750
NM_000267.3(NF1):c.4276C>T (p.Gln1426Ter) rs1135402857
NM_000267.3(NF1):c.4367+1G>C rs773151680
NM_000267.3(NF1):c.4595del (p.Pro1532fs) rs1555619029
NM_000267.3(NF1):c.4606dup (p.Thr1536fs) rs1555619033
NM_000267.3(NF1):c.4681_4682del (p.Glu1561fs) rs1555619395
NM_000267.3(NF1):c.4758T>A (p.Tyr1586Ter) rs1555619416
NM_000267.3(NF1):c.4773-1G>A rs1057518326
NM_000267.3(NF1):c.4935del (p.Pro1646fs) rs1135402867
NM_000267.3(NF1):c.5002dup (p.Tyr1668fs) rs1555533359
NM_000267.3(NF1):c.5009_5010delinsCCC (p.Lys1670fs) rs1555533363
NM_000267.3(NF1):c.5205+2T>G rs1555533416
NM_000267.3(NF1):c.5222T>A (p.Val1741Asp) rs1555533550
NM_000267.3(NF1):c.5294C>A (p.Ser1765Ter) rs1555533569
NM_000267.3(NF1):c.5497_5499delinsT (p.Leu1833fs) rs1555533641
NM_000267.3(NF1):c.5547-2A>T rs1135402876
NM_000267.3(NF1):c.5561A>G (p.Asn1854Ser) rs1555533843
NM_000267.3(NF1):c.5600dup (p.Glu1868fs) rs1555533856
NM_000267.3(NF1):c.5721_5722AG[1] (p.Glu1908fs) rs1555533882
NM_000267.3(NF1):c.5749+1G>T rs876658854
NM_000267.3(NF1):c.5773T>A (p.Leu1925Met) rs1422333640
NM_000267.3(NF1):c.5928G>A (p.Trp1976Ter) rs876660696
NM_000267.3(NF1):c.5944-1G>A rs1555534596
NM_000267.3(NF1):c.60+2del rs1131691101
NM_000267.3(NF1):c.6084+2T>C rs1555534621
NM_000267.3(NF1):c.6164_6165dup (p.Asp2056fs) rs1555534680
NM_000267.3(NF1):c.6241dup (p.Tyr2081fs) rs1555534712
NM_000267.3(NF1):c.6399dup (p.Glu2134fs) rs1135402888
NM_000267.3(NF1):c.655-2A>C rs1555608734
NM_000267.3(NF1):c.6582del (p.Cys2195fs) rs1555534913
NM_000267.3(NF1):c.6606C>A (p.Cys2202Ter) rs1555534918
NM_000267.3(NF1):c.6608del (p.Lys2203fs) rs1555534919
NM_000267.3(NF1):c.6611G>A (p.Trp2204Ter) rs1193716348
NM_000267.3(NF1):c.6642-17G>A rs1064795966
NM_000267.3(NF1):c.6717_6728delinsATGAGAC (p.His2240_Ile2243delinsTer) rs1555534952
NM_000267.3(NF1):c.6770dup (p.Cys2257fs) rs1555535027
NM_000267.3(NF1):c.6792dup (p.Asn2265fs) rs1555535041
NM_000267.3(NF1):c.6858+2T>A rs1555535053
NM_000267.3(NF1):c.6858G>C (p.Lys2286Asn) rs1057523533
NM_000267.3(NF1):c.6889_6892del (p.Val2297fs) rs1555535163
NM_000267.3(NF1):c.6916_6917insTA (p.Glu2306fs) rs1555535171
NM_000267.3(NF1):c.7106_7115delinsCAGC (p.Leu2369_His2372delinsSerAla) rs1555535448
NM_000267.3(NF1):c.730+1G>T rs1060500274
NM_000267.3(NF1):c.7518del (p.Gln2507fs) rs878853917
NM_000267.3(NF1):c.7637C>T (p.Pro2546Leu) rs754511534
NM_000267.3(NF1):c.7690del (p.Ser2564fs) rs1555536685
NM_000267.3(NF1):c.8096del (p.Lys2699fs) rs1555537029
NM_000267.3(NF1):c.8097+1G>A rs1555537032
NM_000267.3(NF1):c.817del (p.Leu273fs) rs1555608972
NM_000267.3(NF1):c.889-1G>A rs587781517
NM_000267.3(NF1):c.959C>A (p.Ala320Asp) rs1555610884
NM_000267.3(NF1):c.988del (p.Ala330fs) rs1555610896
NM_000268.3(NF2):c.1507dup (p.Asp503fs) rs1556002536
NM_000268.3(NF2):c.1737+2T>A rs1556003801
NM_000268.3(NF2):c.354_356CTT[1] (p.Phe119del) rs1555987732
NM_000268.3(NF2):c.465del (p.Ser156fs) rs1555992948
NM_000268.3(NF2):c.556_557GA[2] (p.Arg187fs) rs1555993301
NM_000268.3(NF2):c.58_61delinsGT (p.Lys20fs) rs1555978369
NM_000314.7(PTEN):c.464A>C (p.Tyr155Ser) rs1060500126
NM_000314.7(PTEN):c.865_866insCT (p.Lys289fs) rs1554825530
NM_000314.7(PTEN):c.975_988delinsCGCTT (p.Asp326_Lys330delinsAlaTer) rs1114167640
NM_000368.4(TSC1):c.1013_1019del (p.Ile338fs) rs1554817344
NM_000368.4(TSC1):c.1029+3A>G rs1554817334
NM_000368.4(TSC1):c.1579C>T (p.Gln527Ter) rs118203549
NM_000368.4(TSC1):c.1782_1786del (p.Gly595fs) rs1554815828
NM_000368.4(TSC1):c.509-1G>A rs1554819620
NM_000368.4(TSC1):c.769_776del (p.Ile257fs) rs1554817676
NM_000368.4(TSC1):c.982C>T (p.Gln328Ter) rs1554817388
NM_000393.5(COL5A2):c.1A>G (p.Met1Val) rs563606558
NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs) rs1555508929
NM_000548.5(TSC2):c.2772del (p.Phe924fs) rs1555508938
NM_000548.5(TSC2):c.3610G>A (p.Gly1204Arg) rs1555511663
NM_000548.5(TSC2):c.4494-1G>A rs45517346
NM_000548.5(TSC2):c.4919A>G (p.His1640Arg) rs794727602
NM_000548.5(TSC2):c.649-1G>A rs794727906
NM_000548.5(TSC2):c.849-1G>C rs45506396
NM_001083962.2(TCF4):c.1060_1061TC[5] (p.Ala357fs) rs1555775233
NM_001083962.2(TCF4):c.1169del (p.Arg389_Leu390insTer) rs1555764839
NM_001083962.2(TCF4):c.1512_1513insTAGTCCAG (p.Ser505Ter) rs1555718354
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter) rs1131691735
NM_001128425.1(MUTYH):c.1342C>G (p.His448Asp) rs786202133
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter) rs1057521256
NM_001291415.1(KDM6A):c.62del (p.Glu21fs) rs1555957146
NM_001615.4(ACTG2):c.632G>A (p.Arg211Gln) rs1553396458
NM_001844.4(COL2A1):c.971delG (p.Gly324Valfs) rs1555168309
NM_001844.5(COL2A1):c.1556G>A (p.Gly519Asp) rs1555167139
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter) rs1246771678
NM_001844.5(COL2A1):c.2049+1G>A rs1555166658
NM_001844.5(COL2A1):c.2355+2del rs1555166295
NM_001999.4(FBN2):c.3459_3461GAA[1] (p.Lys1154del) rs1554123139
NM_001999.4(FBN2):c.3718T>G (p.Cys1240Gly) rs1554122897
NM_002351.4(SH2D1A):c.385T>C (p.Ter129Arg) rs111033625
NM_002351.4(SH2D1A):c.5A>G (p.Asp2Gly) rs1556619319
NM_002474.3(MYH11):c.5787-4707del rs747392139
NM_003000.2(SDHB):c.600G>A (p.Trp200Ter) rs397516836
NM_003002.4(SDHD):c.18_21del (p.Leu7fs) rs1555186662
NM_003159.2(CDKL5):c.1238C>A (p.Ser413Ter) rs267608618
NM_003159.2(CDKL5):c.1596del (p.Thr533fs) rs1555952078
NM_003159.2(CDKL5):c.2480_2486dup (p.Gln830fs) rs1555954752
NM_003159.2(CDKL5):c.99+1G>T rs267608421
NM_003220.3(TFAP2A):c.1314A>G (p.Ter438Trp) rs1554110673
NM_003220.3(TFAP2A):c.401_407dup (p.Pro137fs) rs1554112492
NM_003220.3(TFAP2A):c.697G>A (p.Glu233Lys) rs1554111751
NM_003220.3(TFAP2A):c.713T>C (p.Leu238Pro) rs1554111734
NM_003220.3(TFAP2A):c.749G>A (p.Gly250Asp) rs1554111717
NM_003220.3(TFAP2A):c.761G>A (p.Arg254Gln) rs151344530
NM_003220.3(TFAP2A):c.889G>C (p.Ala297Pro) rs1554110994
NM_003238.5(TGFB2):c.547C>T (p.Arg183Cys) rs1436552875
NM_003482.3(KMT2D):c.10090C>T (p.Gln3364Ter) rs1210590639
NM_003482.3(KMT2D):c.10378C>T (p.Gln3460Ter) rs1555189450
NM_003482.3(KMT2D):c.10440+2T>G rs1555189421
NM_003482.3(KMT2D):c.10653dup (p.Ala3552fs) rs763440821
NM_003482.3(KMT2D):c.10999C>T (p.Gln3667Ter) rs1555189038
NM_003482.3(KMT2D):c.11290C>T (p.Gln3764Ter) rs587783682
NM_003482.3(KMT2D):c.11422del (p.Ala3808fs) rs1555188704
NM_003482.3(KMT2D):c.1143del (p.Thr382fs) rs1064796125
NM_003482.3(KMT2D):c.11456del (p.Gly3819fs) rs1555188687
NM_003482.3(KMT2D):c.11470_11471CA[1] (p.His3824fs) rs1555188670
NM_003482.3(KMT2D):c.11633_11634AG[1] (p.Leu3880fs) rs1555188561
NM_003482.3(KMT2D):c.11692C>T (p.Gln3898Ter) rs398123708
NM_003482.3(KMT2D):c.11710C>T (p.Gln3904Ter) rs1555188537
NM_003482.3(KMT2D):c.11739del (p.Gln3913fs) rs1555188520
NM_003482.3(KMT2D):c.11743C>T (p.Gln3915Ter) rs1555188518
NM_003482.3(KMT2D):c.11848C>T (p.Gln3950Ter) rs1555188430
NM_003482.3(KMT2D):c.12469C>T (p.Gln4157Ter) rs1555188080
NM_003482.3(KMT2D):c.12546dup (p.Gln4183fs) rs1555188026
NM_003482.3(KMT2D):c.12808C>T (p.Gln4270Ter) rs1555187869
NM_003482.3(KMT2D):c.12896del (p.Gly4299fs) rs587783686
NM_003482.3(KMT2D):c.13026_13027dup (p.Thr4343fs) rs1555187741
NM_003482.3(KMT2D):c.13213C>T (p.Gln4405Ter) rs1555187575
NM_003482.3(KMT2D):c.13346del (p.Leu4449fs) rs1555187485
NM_003482.3(KMT2D):c.13367C>G (p.Ser4456Ter) rs1555187461
NM_003482.3(KMT2D):c.13996_13997del (p.Arg4666fs) rs587783693
NM_003482.3(KMT2D):c.14000-3C>G rs1355372507
NM_003482.3(KMT2D):c.14053_14054CA[1] (p.His4685fs) rs1555186627
NM_003482.3(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483
NM_003482.3(KMT2D):c.14189G>A (p.Trp4730Ter) rs1555186527
NM_003482.3(KMT2D):c.14469del (p.Ala4824fs) rs1555186257
NM_003482.3(KMT2D):c.14515+1G>A rs1555186232
NM_003482.3(KMT2D):c.14669_14672del (p.Thr4890fs) rs1555186087
NM_003482.3(KMT2D):c.14713C>T (p.Gln4905Ter) rs1555186053
NM_003482.3(KMT2D):c.14722del (p.Ala4908fs) rs1555186044
NM_003482.3(KMT2D):c.14833delinsAA (p.Pro4945fs) rs1555185978
NM_003482.3(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.3(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.3(KMT2D):c.15286C>T (p.Gln5096Ter) rs1555185817
NM_003482.3(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.3(KMT2D):c.15583C>T (p.Gln5195Ter) rs1555185699
NM_003482.3(KMT2D):c.15731_15732del (p.Lys5244fs) rs1555185610
NM_003482.3(KMT2D):c.16125del (p.Tyr5376fs) rs1555184893
NM_003482.3(KMT2D):c.16338+1G>T rs1555184782
NM_003482.3(KMT2D):c.16342C>T (p.Arg5448Ter) rs1422752351
NM_003482.3(KMT2D):c.16470del (p.Glu5491fs) rs1555184624
NM_003482.3(KMT2D):c.1940del (p.Pro647fs) rs770315135
NM_003482.3(KMT2D):c.2110_2113delinsTC (p.Asp704fs) rs1555197101
NM_003482.3(KMT2D):c.2263dup (p.Arg755fs) rs1555196984
NM_003482.3(KMT2D):c.2546C>A (p.Ser849Ter) rs370492566
NM_003482.3(KMT2D):c.2578_2579del (p.Leu860fs) rs1555196742
NM_003482.3(KMT2D):c.2819C>G (p.Ser940Ter) rs1555196590
NM_003482.3(KMT2D):c.3019_3020del (p.Ser1007fs) rs1555196459
NM_003482.3(KMT2D):c.3649dup (p.Ser1217fs) rs1555196084
NM_003482.3(KMT2D):c.3789_3790del (p.Leu1264fs) rs1555196016
NM_003482.3(KMT2D):c.4130A>C (p.Gln1377Pro) rs1555195573
NM_003482.3(KMT2D):c.4131G>A (p.Gln1377=) rs764942
NM_003482.3(KMT2D):c.4135_4136del (p.Met1379fs) rs398123744
NM_003482.3(KMT2D):c.423G>A (p.Trp141Ter) rs1555198640
NM_003482.3(KMT2D):c.4395dup (p.Lys1466fs) rs1555195118
NM_003482.3(KMT2D):c.4710del (p.Glu1571fs) rs1555194822
NM_003482.3(KMT2D):c.472_473TG[1] (p.Cys158fs) rs1555198590
NM_003482.3(KMT2D):c.4762G>T (p.Glu1588Ter) rs1290729871
NM_003482.3(KMT2D):c.50-1G>T rs1555198921
NM_003482.3(KMT2D):c.5058dup (p.Arg1687fs) rs1555194303
NM_003482.3(KMT2D):c.5135_5136del (p.Lys1712fs) rs1555194236
NM_003482.3(KMT2D):c.5166del (p.Ser1722fs) rs367537992
NM_003482.3(KMT2D):c.5467G>T (p.Gly1823Ter) rs1555193912
NM_003482.3(KMT2D):c.5597del (p.Pro1866fs) rs1555193755
NM_003482.3(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003482.3(KMT2D):c.6594dup (p.Tyr2199fs) rs1555192751
NM_003482.3(KMT2D):c.6844del (p.Arg2282fs) rs1555192531
NM_003482.3(KMT2D):c.6955dup (p.Leu2319fs) rs1555192457
NM_003482.3(KMT2D):c.6966dup (p.Thr2323fs) rs1555192451
NM_003482.3(KMT2D):c.6992del (p.Leu2331fs) rs1555192437
NM_003482.3(KMT2D):c.702del (p.Pro235fs) rs1555198318
NM_003482.3(KMT2D):c.7282del (p.Arg2428fs) rs1555192218
NM_003482.3(KMT2D):c.7287_7290TCTG[1] (p.Ser2431fs) rs1555192210
NM_003482.3(KMT2D):c.7426G>T (p.Glu2476Ter) rs1555192113
NM_003482.3(KMT2D):c.7479dup (p.Phe2494fs) rs1555192051
NM_003482.3(KMT2D):c.7481dup (p.Ala2496fs) rs35584294
NM_003482.3(KMT2D):c.8025_8026AG[1] (p.Glu2676fs) rs1555191665
NM_003482.3(KMT2D):c.8053C>T (p.Arg2685Ter) rs587783727
NM_003482.3(KMT2D):c.8171_8175del (p.Pro2724fs) rs587783728
NM_003482.3(KMT2D):c.8350_8351del (p.Met2784fs) rs1555191324
NM_003482.3(KMT2D):c.838A>G (p.Arg280Gly) rs1555198244
NM_003482.3(KMT2D):c.8401C>T (p.Arg2801Ter) rs1555191203
NM_003482.3(KMT2D):c.8474_8477dup (p.Thr2827fs) rs1555191177
NM_003482.3(KMT2D):c.8516C>G (p.Ser2839Ter) rs1555191147
NM_003482.3(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003482.3(KMT2D):c.8859_8861delinsCA (p.Lys2953fs) rs1555190907
NM_003482.3(KMT2D):c.8952del (p.Lys2985fs) rs1555190806
NM_003482.3(KMT2D):c.9417del (p.Lys3140fs) rs1555190550
NM_003482.3(KMT2D):c.9595del (p.Ser3199fs) rs1555190391
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) rs794729219
NM_004463.3(FGD1):c.1241C>T (p.Pro414Leu) rs1557189455
NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter) rs1269514277
NM_004463.3(FGD1):c.277dup (p.Tyr93fs) rs1557191567
NM_004465.1(FGF10):c.1A>G (p.Met1Val) rs1554040396
NM_004465.1(FGF10):c.232delC (p.Arg78Alafs) rs1554040364
NM_004465.1(FGF10):c.256delA (p.Thr86Profs) rs1554040361
NM_004465.1(FGF10):c.356delG (p.Gly119Glufs) rs1554035763
NM_004465.1(FGF10):c.401T>A (p.Met134Lys) rs1554035757
NM_004465.1(FGF10):c.550G>A (p.Gly184Arg) rs1554035469
NM_004586.3(RPS6KA3):c.1308C>A (p.Cys436Ter) rs1160828151
NM_004586.3(RPS6KA3):c.1964del (p.Leu655fs) rs1555924704
NM_004586.3(RPS6KA3):c.774+1G>C rs1555939331
NM_004612.4(TGFBR1):c.1303G>C (p.Asp435His) rs1554702463
NM_004992.3(MECP2):c.840del (p.Ala281fs) rs1557136332
NM_004992.3(MECP2):c.854del (p.Lys285fs) rs267608531
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_006941.3(SOX10):c.1095dup (p.Pro366fs) rs1555937395
NM_006941.3(SOX10):c.1107del (p.His368_Tyr369insTer) rs1555937390
NM_006941.3(SOX10):c.141del (p.Pro48fs) rs1064796049
NM_006941.3(SOX10):c.255_274dup (p.Val92fs) rs1555939476
NM_006941.3(SOX10):c.298_300delinsGG (p.Ser100fs) rs1555939460
NM_006941.3(SOX10):c.301A>T (p.Lys101Ter) rs1555939459
NM_006941.3(SOX10):c.364C>G (p.Leu122Val) rs1555939426
NM_006941.3(SOX10):c.380dup (p.His128fs) rs1555939421
NM_006941.3(SOX10):c.426G>C (p.Trp142Cys) rs1555939403
NM_006941.3(SOX10):c.452G>C (p.Arg151Pro) rs1373797370
NM_006941.3(SOX10):c.586G>T (p.Glu196Ter) rs763210407
NM_006941.3(SOX10):c.934dup (p.Ser312fs) rs1555937463
NM_014795.4(ZEB2):c.1168del (p.Ile390fs) rs1553961747
NM_014795.4(ZEB2):c.247dup (p.Glu83fs) rs1553964145
NM_014795.4(ZEB2):c.3023T>G (p.Phe1008Cys) rs1553961332
NM_014795.4(ZEB2):c.3200C>A (p.Ser1067Ter) rs1423851170
NM_017617.5(NOTCH1):c.2047G>A (p.Ala683Thr) rs756434709
NM_017780.4(CHD7):c.1597_1598insT (p.His533fs) rs1554581814
NM_017780.4(CHD7):c.3379-2A>C rs864622523
NM_017780.4(CHD7):c.5607+1G>A rs1554603672
NM_017780.4(CHD7):c.7648G>T (p.Glu2550Ter) rs1554605973
NM_017780.4(CHD7):c.8087del (p.Pro2696fs) rs1554606910
NM_017780.4(CHD7):c.862C>T (p.Gln288Ter) rs1554581399
NM_022455.4(NSD1):c.3036_3054dup (p.Arg1019delinsPheArgLeuCysTyrTer) rs1554189972
NM_022455.4(NSD1):c.5758T>A (p.Cys1920Ser) rs1554204122
NM_022455.4(NSD1):c.6328C>T (p.Gln2110Ter) rs1554206783
NM_022455.4(NSD1):c.6437dup (p.Cys2146fs) rs1554206836
NM_022455.4(NSD1):c.6613C>T (p.His2205Tyr) rs1554207316
NM_033290.4(MID1):c.1361A>G (p.Gln454Arg) rs1556004400
NM_033290.4(MID1):c.1454del (p.Pro485fs) rs1556003200
NM_033290.4(MID1):c.1725G>A (p.Trp575Ter) rs1556001968
NM_033290.4(MID1):c.1881C>A (p.Tyr627Ter) rs1556001856
NM_033290.4(MID1):c.922del (p.Arg308fs) rs1555894390
NM_080629.2(COL11A1):c.4176+3A>T rs1553196515
NM_152594.3(SPRED1):c.1_2del (p.Met1fs) rs1555386649
NM_152594.3(SPRED1):c.24del (p.Asp9fs) rs1555386654
NM_152594.3(SPRED1):c.880_881dup (p.Ser295fs) rs1555392750
NM_181457.4(PAX3):c.1021C>T (p.Gln341Ter) rs1553572740
NM_181457.4(PAX3):c.124G>C (p.Gly42Arg) rs773327091
NM_181457.4(PAX3):c.1277C>A (p.Ser426Ter) rs369886550
NM_181457.4(PAX3):c.136dup (p.Ile46fs) rs1553594009
NM_181457.4(PAX3):c.1372_1375dup (p.Ser459fs) rs1553568831
NM_181457.4(PAX3):c.210C>A (p.Cys70Ter) rs1356246522
NM_181457.4(PAX3):c.232G>T (p.Val78Leu) rs1553593917
NM_181457.4(PAX3):c.246C>A (p.Cys82Ter) rs777297575
NM_181457.4(PAX3):c.246C>G (p.Cys82Trp) rs777297575
NM_181457.4(PAX3):c.269A>G (p.Tyr90Cys) rs1553593874
NM_181457.4(PAX3):c.452-9C>A rs1379006499
NM_181457.4(PAX3):c.482_484delinsTA (p.Lys161fs) rs1553592757
NM_181457.4(PAX3):c.524dup (p.Glu176fs) rs1553592713
NM_181457.4(PAX3):c.530_531insCT (p.Ala177_Glu178insTer) rs1553592703
NM_181457.4(PAX3):c.692T>C (p.Leu231Pro) rs1553575191
NM_181457.4(PAX3):c.791A>C (p.Gln264Pro) rs1553575157
NM_181457.4(PAX3):c.86-2A>G rs1553594069
NM_181457.4(PAX3):c.921del (p.Ser308fs) rs1553572946
NM_207034.3(EDN3):c.334C>A (p.His112Asn) rs977075341

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