ClinVar Miner

List of variants studied for acrocephalosyndactyly

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 481
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HGVS dbSNP
FGFR2, ALU INS
MEGF8, GLY199ARG
NC_000006.12:g.(?_57186982)_(57222324_?)del
NC_000007.14:g.(?_19116693)_(19117341_?)del
NC_000008.11:g.(?_38424489)_(38461126_?)del
NC_000010.11:g.121478318G>T
NC_000019.10:g.(?_42370701)_(42370831_?)del
NM_000141.5(FGFR2):c.*1070T>C rs886046761
NM_000141.5(FGFR2):c.*111G>A rs574474794
NM_000141.5(FGFR2):c.*1126T>C rs370106008
NM_000141.5(FGFR2):c.*1240A>C
NM_000141.5(FGFR2):c.*1283C>G
NM_000141.5(FGFR2):c.*1287A>C rs886046760
NM_000141.5(FGFR2):c.*1301C>T rs71640261
NM_000141.5(FGFR2):c.*1319A>G rs3135830
NM_000141.5(FGFR2):c.*1369C>T rs886046759
NM_000141.5(FGFR2):c.*1402T>C rs886046758
NM_000141.5(FGFR2):c.*1489C>T rs886046757
NM_000141.5(FGFR2):c.*1498_*1502del rs566259479
NM_000141.5(FGFR2):c.*184C>T rs4647917
NM_000141.5(FGFR2):c.*197del rs748777325
NM_000141.5(FGFR2):c.*256G>A
NM_000141.5(FGFR2):c.*259C>T rs1047057
NM_000141.5(FGFR2):c.*324A>G rs150519853
NM_000141.5(FGFR2):c.*403A>G rs3135826
NM_000141.5(FGFR2):c.*463A>G
NM_000141.5(FGFR2):c.*469G>A rs41294351
NM_000141.5(FGFR2):c.*497T>C rs3135827
NM_000141.5(FGFR2):c.*641_*644del rs548465887
NM_000141.5(FGFR2):c.*674G>T rs566155088
NM_000141.5(FGFR2):c.*730G>C
NM_000141.5(FGFR2):c.*736dup rs886046762
NM_000141.5(FGFR2):c.*874A>G
NM_000141.5(FGFR2):c.*921G>A rs185617859
NM_000141.5(FGFR2):c.-108C>T
NM_000141.5(FGFR2):c.-128G>A rs547739869
NM_000141.5(FGFR2):c.-129C>T rs886046765
NM_000141.5(FGFR2):c.-135C>T rs554557891
NM_000141.5(FGFR2):c.-157A>G rs41258305
NM_000141.5(FGFR2):c.-165G>A rs886046766
NM_000141.5(FGFR2):c.-173G>A
NM_000141.5(FGFR2):c.-17G>C
NM_000141.5(FGFR2):c.-196G>A
NM_000141.5(FGFR2):c.-206C>A
NM_000141.5(FGFR2):c.-236G>A rs1047111
NM_000141.5(FGFR2):c.-236G>C rs1047111
NM_000141.5(FGFR2):c.-237C>A
NM_000141.5(FGFR2):c.-298_-297dup rs41301549
NM_000141.5(FGFR2):c.-318G>C rs41301547
NM_000141.5(FGFR2):c.-358C>T rs41301545
NM_000141.5(FGFR2):c.-371C>T rs527570655
NM_000141.5(FGFR2):c.-458C>A rs41301043
NM_000141.5(FGFR2):c.-46G>A rs201606812
NM_000141.5(FGFR2):c.-535G>C rs886046767
NM_000141.5(FGFR2):c.-590G>C
NM_000141.5(FGFR2):c.-603C>T
NM_000141.5(FGFR2):c.-61G>T
NM_000141.5(FGFR2):c.-622G>A rs886046768
NM_000141.5(FGFR2):c.-626C>A
NM_000141.5(FGFR2):c.-74G>A rs4647922
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) rs1057519044
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.1031C>G (p.Ala344Gly) rs121918492
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) rs121918491
NM_000141.5(FGFR2):c.1052C>G (p.Ser351Cys) rs121918502
NM_000141.5(FGFR2):c.1093A>C (p.Arg365=)
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) rs1554927408
NM_000141.5(FGFR2):c.1167C>G (p.Ala389=)
NM_000141.5(FGFR2):c.1179A>T (p.Val393=) rs886046763
NM_000141.5(FGFR2):c.1213A>G (p.Lys405Glu)
NM_000141.5(FGFR2):c.1239G>A (p.Pro413=) rs147674677
NM_000141.5(FGFR2):c.1485G>T (p.Val495=)
NM_000141.5(FGFR2):c.1539C>A (p.Thr513=) rs74160617
NM_000141.5(FGFR2):c.1539C>T (p.Thr513=) rs74160617
NM_000141.5(FGFR2):c.1548G>A (p.Val516=) rs200522893
NM_000141.5(FGFR2):c.1562A>G (p.Asp521Gly)
NM_000141.5(FGFR2):c.1572A>G (p.Thr524=) rs74160613
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala) rs121918506
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly) rs121918506
NM_000141.5(FGFR2):c.1774C>T (p.Arg592Cys) rs141929882
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro) rs3750819
NM_000141.5(FGFR2):c.1922A>G (p.Lys641Arg) rs1057519047
NM_000141.5(FGFR2):c.1941C>T (p.Leu647=) rs35337478
NM_000141.5(FGFR2):c.2001C>G (p.Val667=) rs61731218
NM_000141.5(FGFR2):c.201C>T (p.Ala67=)
NM_000141.5(FGFR2):c.2045A>G (p.His682Arg)
NM_000141.5(FGFR2):c.2190C>T (p.Asn730=) rs55637244
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031
NM_000141.5(FGFR2):c.2415C>T (p.Tyr805=) rs558460047
NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys) rs764959117
NM_000141.5(FGFR2):c.33C>T (p.Val11=)
NM_000141.5(FGFR2):c.454+14C>T
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793
NM_000141.5(FGFR2):c.625-8C>T
NM_000141.5(FGFR2):c.696A>G (p.Val232=) rs1047100
NM_000141.5(FGFR2):c.714G>A (p.Gly238=) rs1276387170
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe) rs121918498
NM_000141.5(FGFR2):c.756_758delinsCTT (p.Pro253Phe) rs387907372
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.5(FGFR2):c.758C>T (p.Pro253Leu) rs77543610
NM_000141.5(FGFR2):c.772C>T (p.Leu258Phe)
NM_000141.5(FGFR2):c.780C>T (p.Ala260=) rs778288494
NM_000141.5(FGFR2):c.799T>C (p.Ser267Pro) rs121918505
NM_000141.5(FGFR2):c.804_809del (p.Val269_Val270del) rs879253718
NM_000141.5(FGFR2):c.818_820del (p.Asp273del) rs121918503
NM_000141.5(FGFR2):c.833G>T (p.Cys278Phe) rs776587763
NM_000141.5(FGFR2):c.833_834delinsTA (p.Cys278Leu) rs1057519037
NM_000141.5(FGFR2):c.864_881del (p.Ile288_Val294delinsMet) rs886037837
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) rs121918497
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.879C>T (p.His293=) rs55745510
NM_000141.5(FGFR2):c.91A>T (p.Thr31Ser)
NM_000141.5(FGFR2):c.962A>C (p.Asp321Ala) rs121918510
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000474.4(TWIST1):c.132_142del (p.Ser45fs) rs1554442082
NM_000474.4(TWIST1):c.180C>T (p.Val60=) rs565371578
NM_000474.4(TWIST1):c.197del (p.Pro66fs) rs1585617611
NM_000474.4(TWIST1):c.203G>A (p.Ser68Asn) rs1051003265
NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter) rs104894065
NM_000474.4(TWIST1):c.245_247GCG[6] (p.Gly86dup) rs754552080
NM_000474.4(TWIST1):c.256_276dup (p.Gly86_Gly92dup) rs544465774
NM_000474.4(TWIST1):c.259_276del (p.Ala87_Gly92del) rs544465774
NM_000474.4(TWIST1):c.273_293dup (p.Gly92_Gly98dup)
NM_000474.4(TWIST1):c.277dup (p.Ser93fs) rs1585617402
NM_000474.4(TWIST1):c.301C>T (p.Gln101Ter) rs1563160116
NM_000474.4(TWIST1):c.306_307del (p.Tyr103fs) rs1585617240
NM_000474.4(TWIST1):c.308dup (p.Tyr103Ter) rs121909186
NM_000474.4(TWIST1):c.309C>A (p.Tyr103Ter) rs104894054
NM_000474.4(TWIST1):c.328C>T (p.Arg110Trp) rs1585617188
NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro) rs1085307555
NM_000474.4(TWIST1):c.33G>T (p.Ser11=) rs1554442101
NM_000474.4(TWIST1):c.341A>C (p.Asn114Thr) rs1554442021
NM_000474.4(TWIST1):c.346C>G (p.Arg116Gly) rs1554442019
NM_000474.4(TWIST1):c.352C>G (p.Arg118Gly) rs1554442015
NM_000474.4(TWIST1):c.356A>C (p.Gln119Pro) rs104894057
NM_000474.4(TWIST1):c.358C>T (p.Arg120Cys) rs1233220987
NM_000474.4(TWIST1):c.368C>A (p.Ser123Ter) rs121909187
NM_000474.4(TWIST1):c.369G>C (p.Ser123=) rs144664279
NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter) rs121909188
NM_000474.4(TWIST1):c.392T>C (p.Leu131Pro) rs121909189
NM_000474.4(TWIST1):c.395G>C (p.Arg132Pro) rs1554441995
NM_000474.4(TWIST1):c.395_415del (p.Arg132_Leu138del) rs1554441992
NM_000474.4(TWIST1):c.396_416dup (p.Lys133_Pro139dup) rs1554441991
NM_000474.4(TWIST1):c.397A>T (p.Lys133Ter) rs1585617015
NM_000474.4(TWIST1):c.397_417dup (p.Lys133_Pro139dup) rs1554441989
NM_000474.4(TWIST1):c.398_418dup (p.Ser140Ter) rs1563159980
NM_000474.4(TWIST1):c.400_420dup (p.Ile134_Ser140dup) rs1585616948
NM_000474.4(TWIST1):c.406C>A (p.Pro136Thr) rs1585616989
NM_000474.4(TWIST1):c.408dup (p.Thr137fs) rs1554441993
NM_000474.4(TWIST1):c.420G>C (p.Ser140=) rs73079389
NM_000474.4(TWIST1):c.446T>G (p.Leu149Arg)
NM_000474.4(TWIST1):c.455C>A (p.Ala152Glu) rs1554441982
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val) rs104894059
NM_000474.4(TWIST1):c.476T>C (p.Leu159Pro) rs1585616825
NM_000474.4(TWIST1):c.487C>T (p.Leu163Phe) rs867957820
NM_000474.4(TWIST1):c.541G>T (p.Glu181Ter) rs104894058
NM_000474.4(TWIST1):c.560T>C (p.Phe187Ser) rs1554441944
NM_000474.4(TWIST1):c.68_75dup (p.Arg26fs) rs1585617865
NM_000474.4(TWIST1):c.70C>G (p.Pro24Ala) rs559821440
NM_000474.4(TWIST1):c.90_111del (p.Lys33fs) rs1563160337
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser) rs878852992
NM_001271938.2(MEGF8):c.1024G>A (p.Val342Met) rs372990477
NM_001271938.2(MEGF8):c.1197C>T (p.Pro399=) rs149190709
NM_001271938.2(MEGF8):c.1342C>T (p.Arg448Ter) rs397514621
NM_001271938.2(MEGF8):c.1378A>G (p.Met460Val)
NM_001271938.2(MEGF8):c.1391-3C>T rs377586547
NM_001271938.2(MEGF8):c.1788+1G>C rs1206116606
NM_001271938.2(MEGF8):c.1789-5C>T rs752609842
NM_001271938.2(MEGF8):c.1902C>T (p.Cys634=) rs150535071
NM_001271938.2(MEGF8):c.1921C>T (p.Leu641Phe) rs1555781030
NM_001271938.2(MEGF8):c.1933+10C>T rs763206386
NM_001271938.2(MEGF8):c.2450A>G (p.His817Arg) rs151116615
NM_001271938.2(MEGF8):c.2454C>T (p.Ser818=) rs140035679
NM_001271938.2(MEGF8):c.246G>T (p.Thr82=) rs369259465
NM_001271938.2(MEGF8):c.2537C>T (p.Ser846Leu) rs148207079
NM_001271938.2(MEGF8):c.2649T>C (p.Asp883=) rs757551016
NM_001271938.2(MEGF8):c.2653G>A (p.Gly885Arg) rs746031284
NM_001271938.2(MEGF8):c.2681T>A (p.Val894Glu)
NM_001271938.2(MEGF8):c.2689C>T (p.Leu897Phe) rs777017134
NM_001271938.2(MEGF8):c.3010C>T (p.Arg1004Trp) rs141383715
NM_001271938.2(MEGF8):c.3033C>T (p.Thr1011=) rs145216125
NM_001271938.2(MEGF8):c.3260C>T (p.Pro1087Leu) rs781096678
NM_001271938.2(MEGF8):c.3310C>T (p.Arg1104Trp) rs370522595
NM_001271938.2(MEGF8):c.3351-3C>T rs10411498
NM_001271938.2(MEGF8):c.3378G>A (p.Val1126=) rs780556649
NM_001271938.2(MEGF8):c.3433C>T (p.Leu1145=) rs115335139
NM_001271938.2(MEGF8):c.3461C>T (p.Pro1154Leu) rs562936594
NM_001271938.2(MEGF8):c.351+10G>A rs374212597
NM_001271938.2(MEGF8):c.352-4G>A rs143955737
NM_001271938.2(MEGF8):c.352-5C>T rs180788941
NM_001271938.2(MEGF8):c.357G>A (p.Leu119=) rs115536529
NM_001271938.2(MEGF8):c.3625C>T (p.Arg1209Trp) rs372257661
NM_001271938.2(MEGF8):c.3798C>T (p.Arg1266=) rs750232469
NM_001271938.2(MEGF8):c.3843G>A (p.Arg1281=) rs148792547
NM_001271938.2(MEGF8):c.3873G>A (p.Gly1291=) rs373710119
NM_001271938.2(MEGF8):c.390G>A (p.Leu130=) rs377093238
NM_001271938.2(MEGF8):c.4020C>T (p.Tyr1340=) rs35473255
NM_001271938.2(MEGF8):c.402C>T (p.Asn134=) rs117439608
NM_001271938.2(MEGF8):c.4152C>T (p.Leu1384=) rs34225188
NM_001271938.2(MEGF8):c.4184C>T (p.Ser1395Phe) rs1568568653
NM_001271938.2(MEGF8):c.428C>T (p.Pro143Leu) rs765654107
NM_001271938.2(MEGF8):c.4322G>A (p.Gly1441Asp) rs1229026252
NM_001271938.2(MEGF8):c.4359C>T (p.Cys1453=) rs369967292
NM_001271938.2(MEGF8):c.4434C>T (p.Pro1478=) rs371090576
NM_001271938.2(MEGF8):c.4440C>T (p.Cys1480=) rs138473998
NM_001271938.2(MEGF8):c.4492C>T (p.Arg1498Cys) rs747096596
NM_001271938.2(MEGF8):c.4697G>A (p.Arg1566His) rs397515427
NM_001271938.2(MEGF8):c.4713C>T (p.Ala1571=) rs149279834
NM_001271938.2(MEGF8):c.4714G>A (p.Ala1572Thr) rs777483950
NM_001271938.2(MEGF8):c.4781G>A (p.Arg1594His) rs141153248
NM_001271938.2(MEGF8):c.4842C>T (p.Thr1614=) rs35468447
NM_001271938.2(MEGF8):c.4856C>T (p.Ala1619Val) rs913420234
NM_001271938.2(MEGF8):c.495G>C (p.Gly165=) rs146885610
NM_001271938.2(MEGF8):c.4969G>T (p.Gly1657Cys)
NM_001271938.2(MEGF8):c.5007C>A (p.Pro1669=) rs755932452
NM_001271938.2(MEGF8):c.527C>G (p.Ala176Gly)
NM_001271938.2(MEGF8):c.5281C>G (p.Leu1761Val) rs150607375
NM_001271938.2(MEGF8):c.5316G>A (p.Leu1772=) rs112433681
NM_001271938.2(MEGF8):c.5320G>C (p.Glu1774Gln) rs149787596
NM_001271938.2(MEGF8):c.5475G>A (p.Leu1825=) rs116630802
NM_001271938.2(MEGF8):c.5524G>C (p.Val1842Leu) rs143508185
NM_001271938.2(MEGF8):c.5634C>T (p.Arg1878=) rs62648096
NM_001271938.2(MEGF8):c.5721-10T>C rs188531875
NM_001271938.2(MEGF8):c.6064A>G (p.Thr2022Ala) rs779853780
NM_001271938.2(MEGF8):c.6084G>A (p.Val2028=) rs547635717
NM_001271938.2(MEGF8):c.6274-9C>G rs373417416
NM_001271938.2(MEGF8):c.6295C>T (p.Pro2099Ser) rs1471300485
NM_001271938.2(MEGF8):c.6310G>T (p.Ala2104Ser) rs772768716
NM_001271938.2(MEGF8):c.6335G>A (p.Arg2112Gln)
NM_001271938.2(MEGF8):c.6395G>A (p.Arg2132Gln) rs201140958
NM_001271938.2(MEGF8):c.6500C>T (p.Pro2167Leu) rs372350131
NM_001271938.2(MEGF8):c.6576G>A (p.Thr2192=) rs10425783
NM_001271938.2(MEGF8):c.6641+9G>A rs112519292
NM_001271938.2(MEGF8):c.6715C>T (p.Arg2239Cys) rs1174809027
NM_001271938.2(MEGF8):c.6753G>A (p.Thr2251=)
NM_001271938.2(MEGF8):c.6934A>G (p.Ile2312Val) rs142042363
NM_001271938.2(MEGF8):c.6966C>T (p.Ser2322=) rs754666704
NM_001271938.2(MEGF8):c.7048G>A (p.Val2350Met) rs73033442
NM_001271938.2(MEGF8):c.7053C>T (p.Cys2351=) rs28483598
NM_001271938.2(MEGF8):c.7054G>A (p.Val2352Met) rs112167630
NM_001271938.2(MEGF8):c.7089C>T (p.Cys2363=) rs138235390
NM_001271938.2(MEGF8):c.7300A>G (p.Ser2434Gly) rs397515428
NM_001271938.2(MEGF8):c.7400G>A (p.Arg2467His) rs757739507
NM_001271938.2(MEGF8):c.7421G>A (p.Arg2474His) rs45623135
NM_001271938.2(MEGF8):c.748C>T (p.Leu250Phe) rs773064133
NM_001271938.2(MEGF8):c.7567A>G (p.Thr2523Ala) rs139192223
NM_001271938.2(MEGF8):c.7631G>A (p.Arg2544Gln) rs754329335
NM_001271938.2(MEGF8):c.7670G>A (p.Gly2557Glu)
NM_001271938.2(MEGF8):c.7673C>T (p.Pro2558Leu) rs147216997
NM_001271938.2(MEGF8):c.7694G>A (p.Arg2565Gln) rs764185083
NM_001271938.2(MEGF8):c.7705G>A (p.Val2569Ile) rs147133204
NM_001271938.2(MEGF8):c.7731C>T (p.Tyr2577=) rs3745237
NM_001271938.2(MEGF8):c.7737G>A (p.Thr2579=) rs78335246
NM_001271938.2(MEGF8):c.7742C>T (p.Thr2581Met)
NM_001271938.2(MEGF8):c.7774G>A (p.Val2592Met) rs148860986
NM_001271938.2(MEGF8):c.7809G>T (p.Glu2603Asp) rs768902189
NM_001271938.2(MEGF8):c.7893C>G (p.Ala2631=) rs150486662
NM_001271938.2(MEGF8):c.8057T>G (p.Leu2686Trp) rs1555785144
NM_001271938.2(MEGF8):c.8133G>A (p.Pro2711=) rs370578585
NM_001271938.2(MEGF8):c.8139C>T (p.Ser2713=) rs199681302
NM_001271938.2(MEGF8):c.8176C>T (p.Arg2726Cys) rs141224456
NM_001271938.2(MEGF8):c.8271C>T (p.Pro2757=) rs755400663
NM_001271938.2(MEGF8):c.8337C>T (p.Gly2779=) rs115428796
NM_001271938.2(MEGF8):c.8426G>A (p.Arg2809Lys) rs11881304
NM_001271938.2(MEGF8):c.8466C>A (p.Gly2822=) rs576629405
NM_001271938.2(MEGF8):c.8466_8467delinsAG (p.Ser2823Gly)
NM_001271938.2(MEGF8):c.8467A>G (p.Ser2823Gly) rs537269414
NM_001271938.2(MEGF8):c.8487G>A (p.Ala2829=) rs773571688
NM_001271938.2(MEGF8):c.8522C>G (p.Thr2841Ser) rs914088074
NM_001271938.2(MEGF8):c.853G>A (p.Val285Met) rs376248434
NM_001271938.2(MEGF8):c.865G>A (p.Gly289Ser) rs753588973
NM_001271938.2(MEGF8):c.919G>A (p.Val307Met) rs201180083
NM_015850.4(FGFR1):c.*2104del rs201364530
NM_016277.5(RAB23):c.*1052T>C
NM_016277.5(RAB23):c.*1131C>G
NM_016277.5(RAB23):c.*117A>G
NM_016277.5(RAB23):c.*1180_*1183ATCA[3] rs139778770
NM_016277.5(RAB23):c.*1251G>A rs182662
NM_016277.5(RAB23):c.*1312A>G rs11398
NM_016277.5(RAB23):c.*145T>C rs189570356
NM_016277.5(RAB23):c.*1494A>G
NM_016277.5(RAB23):c.*1534T>G
NM_016277.5(RAB23):c.*1536T>G
NM_016277.5(RAB23):c.*1665_*1667dup rs886061651
NM_016277.5(RAB23):c.*1706T>C
NM_016277.5(RAB23):c.*1740C>T
NM_016277.5(RAB23):c.*1817A>G
NM_016277.5(RAB23):c.*2008G>A
NM_016277.5(RAB23):c.*2067A>G
NM_016277.5(RAB23):c.*2245T>C
NM_016277.5(RAB23):c.*2273T>C
NM_016277.5(RAB23):c.*2319T>C
NM_016277.5(RAB23):c.*2341C>A
NM_016277.5(RAB23):c.*2425G>A
NM_016277.5(RAB23):c.*2485A>G
NM_016277.5(RAB23):c.*2586G>A
NM_016277.5(RAB23):c.*2681G>A
NM_016277.5(RAB23):c.*2753G>A
NM_016277.5(RAB23):c.*2769C>A
NM_016277.5(RAB23):c.*2876T>C
NM_016277.5(RAB23):c.*3033C>T
NM_016277.5(RAB23):c.*3129G>C
NM_016277.5(RAB23):c.*3189T>C
NM_016277.5(RAB23):c.*3298A>G
NM_016277.5(RAB23):c.*3330A>G
NM_016277.5(RAB23):c.*416G>C rs1411578
NM_016277.5(RAB23):c.*544G>A rs138311113
NM_016277.5(RAB23):c.*600_*603AATT[1] rs886061654
NM_016277.5(RAB23):c.*618A>G rs886061653
NM_016277.5(RAB23):c.*677T>C
NM_016277.5(RAB23):c.*722T>C rs143345846
NM_016277.5(RAB23):c.*735T>G rs886061652
NM_016277.5(RAB23):c.*795G>A
NM_016277.5(RAB23):c.*811G>A rs16888378
NM_016277.5(RAB23):c.*81G>T
NM_016277.5(RAB23):c.*850A>G
NM_016277.5(RAB23):c.*920C>G rs530900959
NM_016277.5(RAB23):c.*984G>A rs148372304
NM_016277.5(RAB23):c.-23C>T rs145059995
NM_016277.5(RAB23):c.-49C>T rs45474592
NM_016277.5(RAB23):c.123C>T (p.Thr41=)
NM_016277.5(RAB23):c.156-9T>C
NM_016277.5(RAB23):c.171T>C (p.Asp57=) rs368714271
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606
NM_016277.5(RAB23):c.223A>T (p.Thr75Ser)
NM_016277.5(RAB23):c.239G>A (p.Arg80Gln) rs145669565
NM_016277.5(RAB23):c.242-31ATTG[6] rs45542438
NM_016277.5(RAB23):c.244G>C (p.Ala82Pro)
NM_016277.5(RAB23):c.25G>A (p.Ala9Thr) rs150655349
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896
NM_016277.5(RAB23):c.337G>A (p.Asp113Asn) rs748398827
NM_016277.5(RAB23):c.389G>C (p.Cys130Ser)
NM_016277.5(RAB23):c.398+9G>A rs376839366
NM_016277.5(RAB23):c.399-14A>T
NM_016277.5(RAB23):c.408dup (p.Glu137Ter) rs1438138090
NM_016277.5(RAB23):c.416T>C (p.Leu139Pro) rs1593208594
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171
NM_016277.5(RAB23):c.481+5A>G rs150762175
NM_016277.5(RAB23):c.481G>C (p.Val161Leu) rs1060505026
NM_016277.5(RAB23):c.48G>C (p.Gly16=) rs1454253077
NM_016277.5(RAB23):c.507C>T (p.Tyr169=) rs1593207365
NM_016277.5(RAB23):c.534T>C (p.Ala178=) rs201820320
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala) rs150440590
NM_016277.5(RAB23):c.54A>G (p.Gly18=) rs767442221
NM_016277.5(RAB23):c.552G>A (p.Thr184=) rs201731610
NM_016277.5(RAB23):c.5del (p.Leu2fs) rs1593223920
NM_016277.5(RAB23):c.616T>A (p.Ser206Thr) rs202181599
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461
NM_016277.5(RAB23):c.664C>G (p.Gln222Glu)
NM_016277.5(RAB23):c.670A>T (p.Thr224Ser)
NM_016277.5(RAB23):c.714A>G (p.Ter238=) rs142290596
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042
NM_016277.5(RAB23):c.86dup (p.Tyr29Ter) rs1593223800
NM_016277.5(RAB23):c.93A>G (p.Lys31=)
NM_022970.3(FGFR2):c.1087+1216_1087+1225delinsACC rs1589828632
NM_022970.3(FGFR2):c.1087+1217A>G rs1057519041
NM_022970.3(FGFR2):c.1087+1218G>A rs879253719
NM_022970.3(FGFR2):c.1087+1366A>G rs879253721
NM_022970.3(FGFR2):c.1088-13A>T rs41295573
NM_022970.3(FGFR2):c.109+10T>G rs3135722
NM_022970.3(FGFR2):c.110-22TC[3] rs773932794
NM_022970.3(FGFR2):c.1565-11A>G rs41293744
NM_022970.3(FGFR2):c.159G>A (p.Ala53=) rs1047102
NM_022970.3(FGFR2):c.1676-12C>T rs41293763
NM_022970.3(FGFR2):c.170C>T (p.Ser57Leu) rs56226109
NM_022970.3(FGFR2):c.204C>T (p.Ala68=) rs747982371
NM_022970.3(FGFR2):c.2304+15C>T rs2278202
NM_022970.3(FGFR2):c.294G>A (p.Thr98=) rs1047101
NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_022970.3(FGFR2):c.351T>C (p.Thr117=) rs886046764
NM_022970.3(FGFR2):c.625-10A>G rs201512833
NM_022970.3(FGFR2):c.939+11T>C rs145303463
NM_023110.2(FGFR1):c.*1026T>C rs542417198
NM_023110.2(FGFR1):c.*1052C>T rs17176088
NM_023110.2(FGFR1):c.*113G>A rs180885042
NM_023110.2(FGFR1):c.*1144G>A rs886062911
NM_023110.2(FGFR1):c.*118C>T rs886062916
NM_023110.2(FGFR1):c.*1211G>T rs185104092
NM_023110.2(FGFR1):c.*1218T>C rs886062910
NM_023110.2(FGFR1):c.*1286C>T rs886062909
NM_023110.2(FGFR1):c.*1439T>C rs11990198
NM_023110.2(FGFR1):c.*1498C>T rs17182484
NM_023110.2(FGFR1):c.*14G>A rs371776128
NM_023110.2(FGFR1):c.*1560C>T rs761096092
NM_023110.2(FGFR1):c.*1616T>G rs886062908
NM_023110.2(FGFR1):c.*1632A>G rs13317
NM_023110.2(FGFR1):c.*1770G>A rs183394116
NM_023110.2(FGFR1):c.*1822A>C rs570038633
NM_023110.2(FGFR1):c.*1965G>A rs886062907
NM_023110.2(FGFR1):c.*2057C>T rs556829066
NM_023110.2(FGFR1):c.*2099T>G rs16887356
NM_023110.2(FGFR1):c.*2188T>C rs146463691
NM_023110.2(FGFR1):c.*2391A>G rs185729862
NM_023110.2(FGFR1):c.*2407C>T rs758524862
NM_023110.2(FGFR1):c.*2434C>T rs565758830
NM_023110.2(FGFR1):c.*313T>C rs886062915
NM_023110.2(FGFR1):c.*313T>G rs886062915
NM_023110.2(FGFR1):c.*494A>G rs562843836
NM_023110.2(FGFR1):c.*569C>T rs17182470
NM_023110.2(FGFR1):c.*70C>T rs886062918
NM_023110.2(FGFR1):c.*71A>G rs886062917
NM_023110.2(FGFR1):c.*723G>C rs17182477
NM_023110.2(FGFR1):c.*762A>G rs886062914
NM_023110.2(FGFR1):c.*845T>C rs886062913
NM_023110.2(FGFR1):c.*906A>T rs139347382
NM_023110.2(FGFR1):c.*913G>A rs886062912
NM_023110.2(FGFR1):c.*958G>A rs537880800
NM_023110.2(FGFR1):c.*963C>T rs567128409
NM_023110.2(FGFR1):c.-124G>A rs17182079
NM_023110.2(FGFR1):c.-270G>A rs578030717
NM_023110.2(FGFR1):c.-286C>T rs4647909
NM_023110.2(FGFR1):c.-338T>G rs527518565
NM_023110.2(FGFR1):c.-358C>T rs17175673
NM_023110.2(FGFR1):c.-385G>A rs2467531
NM_023110.2(FGFR1):c.-636C>T rs3213849
NM_023110.2(FGFR1):c.-699C>T rs328307
NM_023110.2(FGFR1):c.-751C>T rs2445003
NM_023110.2(FGFR1):c.-853G>C rs553799602
NM_023110.2(FGFR1):c.-881G>A rs17182051
NM_023110.2(FGFR1):c.1064G>C (p.Trp355Ser) rs1563474845
NM_023110.2(FGFR1):c.1082-13C>T rs185831613
NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.2(FGFR1):c.1285-8C>A rs1235765985
NM_023110.2(FGFR1):c.1343G>A (p.Arg448Gln) rs758138124
NM_023110.2(FGFR1):c.1368G>T (p.Met456Ile) rs200776757
NM_023110.2(FGFR1):c.1430+13T>C rs763815221
NM_023110.2(FGFR1):c.1430+1G>A rs1554552774
NM_023110.2(FGFR1):c.1540A>C (p.Lys514Gln) rs199573818
NM_023110.2(FGFR1):c.160C>T (p.Arg54Cys) rs778531708
NM_023110.2(FGFR1):c.1615G>A (p.Gly539Arg) rs201158796
NM_023110.2(FGFR1):c.1888C>T (p.Leu630=) rs746123129
NM_023110.2(FGFR1):c.2106C>T (p.Pro702=) rs777061347
NM_023110.2(FGFR1):c.214C>T (p.Gln72Ter) rs1554570813
NM_023110.2(FGFR1):c.2186+8C>T rs372639138
NM_023110.2(FGFR1):c.2187-6C>T rs4647904
NM_023110.2(FGFR1):c.2262G>A (p.Leu754=) rs56341011
NM_023110.2(FGFR1):c.2278T>C (p.Leu760=) rs201490643
NM_023110.2(FGFR1):c.2292+3A>G rs747737281
NM_023110.2(FGFR1):c.2293-11G>A rs886062919
NM_023110.2(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888
NM_023110.2(FGFR1):c.232C>T (p.Arg78Cys) rs1554570706
NM_023110.2(FGFR1):c.2465G>A (p.Arg822His) rs758677681
NM_023110.2(FGFR1):c.273C>T (p.Ser91=) rs201823433
NM_023110.2(FGFR1):c.304G>A (p.Val102Ile) rs55642501
NM_023110.2(FGFR1):c.320C>T (p.Ser107Leu) rs140382957
NM_023110.2(FGFR1):c.336C>T (p.Thr112=) rs148480919
NM_023110.2(FGFR1):c.345C>T (p.Ser115=) rs2915665
NM_023110.2(FGFR1):c.350A>G (p.Asn117Ser) rs780765366
NM_023110.2(FGFR1):c.359-13C>G rs376369060
NM_023110.2(FGFR1):c.359-4A>G rs185233212
NM_023110.2(FGFR1):c.375G>A (p.Ser125=) rs17182296
NM_023110.2(FGFR1):c.415A>G (p.Lys139Glu) rs201054877
NM_023110.2(FGFR1):c.448+1G>A rs376416531
NM_023110.2(FGFR1):c.449-7C>T rs754454127
NM_023110.2(FGFR1):c.449-9C>G rs17182303
NM_023110.2(FGFR1):c.549C>T (p.Thr183=) rs886062920
NM_023110.2(FGFR1):c.600C>T (p.Asp200=) rs17175898
NM_023110.2(FGFR1):c.663G>T (p.Val221=) rs766451294
NM_023110.2(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_023110.2(FGFR1):c.75G>A (p.Pro25=) rs17175757
NM_023110.2(FGFR1):c.787G>A (p.Ala263Thr) rs747978107
NM_023110.2(FGFR1):c.899T>C (p.Ile300Thr) rs121909633
NM_023110.2(FGFR1):c.91+6G>T rs886062921
NM_023110.3(FGFR1):c.1269G>A (p.Leu423=) rs144131616
NM_023110.3(FGFR1):c.1512del (p.Lys504fs)
NM_023110.3(FGFR1):c.1655C>G (p.Thr552Arg)
NM_023110.3(FGFR1):c.2292+6G>T
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) rs1260404537
NM_023110.3(FGFR1):c.381_383TGA[5] (p.Asp133del) rs138489552
NM_023110.3(FGFR1):c.745+7G>A rs202096944
TWIST1, 21-BP DUP

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