ClinVar Miner

List of variants reported as benign for craniosynostosis

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 527
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.3127T>C (p.Leu1043=) rs4925828 0.98841
NM_004260.4(RECQL4):c.274T>C (p.Ser92Pro) rs2721190 0.98532
NM_020779.4(WDR35):c.2824-14G>T rs1191779 0.96807
NM_025132.4(WDR19):c.603+23C>T rs1451817 0.96807
NM_023110.2(FGFR1):c.-751C>T rs2445003 0.95502
NM_001395413.1(POR):c.1446T>C (p.Ala482=) rs2228104 0.86727
NM_001395413.1(POR):c.1058-13C>G rs4732516 0.84641
NM_001395413.1(POR):c.1390-34T>C rs2302431 0.84626
NM_001395413.1(POR):c.1390-33G>T rs2302432 0.84588
NM_002449.5(MSX2):c.*1176G>C rs2890849 0.79238
NM_002449.5(MSX2):c.386T>C (p.Met129Thr) rs4242182 0.78320
NM_002449.5(MSX2):c.*1125A>G rs14459 0.76842
NM_002449.5(MSX2):c.*510A>G rs2381939 0.76399
NM_002449.5(MSX2):c.*1146T>C rs2890848 0.75720
NM_016004.5(IFT52):c.159G>A (p.Val53=) rs2664519 0.74971
NM_001271938.2(MEGF8):c.1933+27A>G rs874002 0.73512
NM_020779.4(WDR35):c.25-46G>A rs3731663 0.57247
NM_004260.4(RECQL4):c.132A>G (p.Glu44=) rs2306386 0.54741
NM_025132.4(WDR19):c.*229C>T rs7564 0.52060
NM_025132.4(WDR19):c.3716+46dup rs11096989 0.51347
NM_025132.4(WDR19):c.3841-27T>C rs12648082 0.51304
NM_000141.5(FGFR2):c.2301+15C>T rs2278202 0.45747
NM_020779.4(WDR35):c.2496A>G (p.Glu832=) rs6741091 0.45165
NM_002381.5(MATN3):c.*176C>T rs7569975 0.44939
NM_000141.5(FGFR2):c.*259C>T rs1047057 0.43446
NM_004260.4(RECQL4):c.801G>C (p.Glu267Asp) rs4244612 0.41942
NM_004260.4(RECQL4):c.3236+13C>T rs4244610 0.41215
NM_004260.4(RECQL4):c.1258+18G>A rs4251689 0.38613
NM_004260.4(RECQL4):c.3393+8C>T rs756627 0.37589
NM_004260.4(RECQL4):c.1621-15C>T rs4244611 0.37577
NM_004260.4(RECQL4):c.3014G>A (p.Arg1005Gln) rs4251691 0.36660
NM_004260.4(RECQL4):c.3502+24G>A rs2279243 0.36505
NM_004260.4(RECQL4):c.738C>T (p.Ser246=) rs4244613 0.36043
NM_023110.3(FGFR1):c.-636C>T rs3213849 0.34931
NM_025132.4(WDR19):c.3183+16A>G rs11096987 0.33074
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly) rs1191778 0.31383
NM_025132.4(WDR19):c.891C>T (p.Cys297=) rs2167494 0.30055
NM_001395413.1(POR):c.1239+12C>T rs2286822 0.27856
NM_004282.4(BAG2):c.*4531G>A rs9382689 0.26771
NM_020779.4(WDR35):c.*523G>A rs957614 0.25621
NM_020779.4(WDR35):c.*231C>A rs1056233 0.25618
NM_002381.5(MATN3):c.1406-4C>T rs35973216 0.25515
NM_023110.3(FGFR1):c.*1632A>G rs13317 0.22837
NM_001395413.1(POR):c.378A>G (p.Pro126=) rs1135612 0.20982
NM_004282.4(BAG2):c.*3998A>G rs12211901 0.15833
NM_004282.4(BAG2):c.*2941T>C rs72868608 0.14761
NM_001271938.2(MEGF8):c.2430T>C (p.Asn810=) rs28621009 0.14431
NM_000141.5(FGFR2):c.-157A>G rs41258305 0.13622
NM_052989.3(IFT122):c.740+15G>A rs56379561 0.13063
NM_052989.3(IFT122):c.1654-12C>T rs112066509 0.12634
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
NM_025132.4(WDR19):c.852A>G (p.Ser284=) rs17584431 0.11533
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_020779.4(WDR35):c.3121+12A>C rs28502265 0.10214
NM_020779.4(WDR35):c.*1050T>C rs10197890 0.10201
NM_020779.4(WDR35):c.*98T>C rs6748924 0.10155
NM_052989.3(IFT122):c.1147+19C>T rs2301570 0.10129
NM_006494.4(ERF):c.1230T>C (p.Ala410=) rs35493131 0.08759
NM_001271938.2(MEGF8):c.5272A>G (p.Lys1758Glu) rs1206038 0.08528
NM_001271938.2(MEGF8):c.1934-7T>C rs1206044 0.08176
NM_020779.4(WDR35):c.*2463C>T rs3731661 0.07941
NM_001395413.1(POR):c.6A>G (p.Gly2=) rs10262966 0.07713
NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln) rs61740161 0.07498
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742 0.07465
NM_023110.3(FGFR1):c.-385G>A rs2467531 0.06909
NM_023110.3(FGFR1):c.-699C>T rs328307 0.06862
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr) rs2293669 0.05563
NM_006494.4(ERF):c.981C>T (p.Ser327=) rs61735151 0.05337
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811 0.05253
NM_020779.4(WDR35):c.*1489G>A rs10182866 0.05128
NM_025132.4(WDR19):c.-9A>G rs60800612 0.05032
NM_001271938.2(MEGF8):c.4065T>C (p.Val1355=) rs61995685 0.04463
NM_001271938.2(MEGF8):c.3450C>T (p.Pro1150=) rs149155949 0.04455
NM_020779.4(WDR35):c.*1127A>G rs75503594 0.04161
NM_025132.4(WDR19):c.910G>A (p.Val304Ile) rs75964850 0.03961
NM_020779.4(WDR35):c.*2957G>A rs76072774 0.03646
NM_020779.4(WDR35):c.549C>T (p.Tyr183=) rs34169020 0.03645
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209 0.03548
NM_002449.5(MSX2):c.*658C>T rs10044147 0.03436
NM_001271938.2(MEGF8):c.4020C>T (p.Tyr1340=) rs35473255 0.03322
NM_004282.4(BAG2):c.*3846C>T rs62415930 0.03322
NM_001271938.2(MEGF8):c.5475G>A (p.Leu1825=) rs116630802 0.03297
NM_006494.4(ERF):c.1104T>C (p.Ser368=) rs76105803 0.03247
NM_002449.5(MSX2):c.-17C>G rs4647952 0.03140
NM_000141.5(FGFR2):c.-318G>C rs41301547 0.02864
NM_002449.5(MSX2):c.*416A>C rs10038500 0.02725
NM_002449.5(MSX2):c.*349T>C rs114567531 0.02667
NM_004260.4(RECQL4):c.1772C>T (p.Pro591Leu) rs2721191 0.02663
NM_052985.3(IFT122):c.-206A>G rs3138334 0.02635
NM_001271938.2(MEGF8):c.1933+13A>G rs139484187 0.02617
NM_001271938.2(MEGF8):c.6576G>A (p.Thr2192=) rs10425783 0.02385
NM_052989.3(IFT122):c.109-15T>C rs114298924 0.02307
NM_000141.5(FGFR2):c.1941C>T (p.Leu647=) rs35337478 0.02240
NM_004260.4(RECQL4):c.1258+6A>T rs34437789 0.02229
NM_023110.2(FGFR1):c.-881G>A rs17182051 0.02149
NM_004260.4(RECQL4):c.1565G>A (p.Arg522His) rs35842750 0.02097
NM_020779.4(WDR35):c.*2836C>T rs74469198 0.02096
NM_004260.4(RECQL4):c.3393+9A>G rs4251692 0.02095
NM_020779.4(WDR35):c.*2408G>C rs112569580 0.01898
NM_025132.4(WDR19):c.1357-10T>C rs16995189 0.01827
NM_000141.5(FGFR2):c.*469G>A rs41294351 0.01826
NM_020779.4(WDR35):c.*3268C>T rs113280329 0.01807
NM_020779.4(WDR35):c.*1479C>T rs77400381 0.01800
NM_004260.4(RECQL4):c.2395G>A (p.Val799Met) rs34293591 0.01793
NM_000141.5(FGFR2):c.-458C>A rs41301043 0.01688
NM_001271938.2(MEGF8):c.7054G>A (p.Val2352Met) rs112167630 0.01684
NM_001271938.2(MEGF8):c.7053C>T (p.Cys2351=) rs28483598 0.01653
NM_001271938.2(MEGF8):c.3351-3C>T rs10411498 0.01637
NM_000141.5(FGFR2):c.*403A>G rs3135826 0.01590
NM_004260.4(RECQL4):c.3480G>A (p.Val1160=) rs34914400 0.01566
NM_004260.4(RECQL4):c.2464-17T>C rs35066227 0.01552
NM_023110.3(FGFR1):c.2187-6C>T rs4647904 0.01503
NM_004260.4(RECQL4):c.274= (p.Ser92=) rs2721190 0.01468
NM_001271938.2(MEGF8):c.7737G>A (p.Thr2579=) rs78335246 0.01393
NM_020779.4(WDR35):c.*1129C>T rs76845713 0.01385
NM_000141.5(FGFR2):c.*1319A>G rs3135830 0.01380
NM_052989.3(IFT122):c.3265+7C>T rs9836202 0.01370
NM_003036.4(SKI):c.99C>G (p.Gly33=) rs200019352 0.01364
NM_004282.4(BAG2):c.*3786T>C rs16888376 0.01354
NM_001271938.2(MEGF8):c.3433C>T (p.Leu1145=) rs115335139 0.01335
NM_020779.4(WDR35):c.*553G>T rs79153401 0.01323
NM_004282.4(BAG2):c.*5460C>T rs16888378 0.01316
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888 0.01307
NM_001271938.2(MEGF8):c.4842C>T (p.Thr1614=) rs35468447 0.01216
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln) rs113345685 0.01206
NM_003036.4(SKI):c.294C>T (p.Thr98=) rs115746142 0.01188
NM_006494.4(ERF):c.1244C>T (p.Ala415Val) rs139842507 0.01177
NM_004260.4(RECQL4):c.300C>T (p.Gly100=) rs34496005 0.01171
NM_052989.3(IFT122):c.2154C>T (p.His718=) rs116819033 0.01164
NM_004260.4(RECQL4):c.3127= (p.Leu1043=) rs4925828 0.01159
NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys) rs56395266 0.01130
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg) rs35198096 0.01041
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala) rs144397126 0.01035
NM_004260.4(RECQL4):c.2238G>A (p.Ala746=) rs35215952 0.01004
NM_052989.3(IFT122):c.1854C>T (p.Ser618=) rs146874343 0.00981
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447 0.00976
NM_001271938.2(MEGF8):c.1902C>T (p.Cys634=) rs150535071 0.00974
NM_003036.4(SKI):c.1211+11G>A rs115186522 0.00934
NM_004260.4(RECQL4):c.1879-15C>A rs35126141 0.00929
NM_001271938.2(MEGF8):c.6641+15G>A rs118098511 0.00926
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr) rs115348383 0.00917
NM_004260.4(RECQL4):c.2636C>A (p.Pro879His) rs137975310 0.00913
NM_052989.3(IFT122):c.2682G>A (p.Ala894=) rs61741773 0.00905
NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln) rs138529452 0.00883
NM_004260.4(RECQL4):c.1564C>T (p.Arg522Cys) rs35407712 0.00877
NM_001271938.2(MEGF8):c.8426G>A (p.Arg2809Lys) rs11881304 0.00870
NM_052989.3(IFT122):c.2415C>T (p.Arg805=) rs61744218 0.00860
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_020779.4(WDR35):c.1089G>A (p.Thr363=) rs79829477 0.00817
NM_000141.5(FGFR2):c.109+10T>G rs3135722 0.00799
NM_023110.3(FGFR1):c.600C>T (p.Asp200=) rs17175898 0.00782
NM_001271938.2(MEGF8):c.5011+15C>T rs78233194 0.00745
NM_023110.3(FGFR1):c.2262G>A (p.Leu754=) rs56341011 0.00711
NM_001271938.2(MEGF8):c.5489-16C>T rs35875097 0.00707
NM_052985.3(IFT122):c.-210C>A rs148987764 0.00690
NM_001271938.2(MEGF8):c.5634C>T (p.Arg1878=) rs62648096 0.00664
NM_023110.3(FGFR1):c.-358C>T rs17175673 0.00647
NM_001271938.2(MEGF8):c.8337C>T (p.Gly2779=) rs115428796 0.00640
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384 0.00623
NM_001271938.2(MEGF8):c.357G>A (p.Leu119=) rs115536529 0.00618
NM_020779.4(WDR35):c.*1406A>G rs10197681 0.00613
NM_001271938.2(MEGF8):c.4713C>T (p.Ala1571=) rs149279834 0.00602
NM_004260.4(RECQL4):c.2415C>T (p.Ala805=) rs34735741 0.00600
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_023110.3(FGFR1):c.345C>T (p.Ser115=) rs2915665 0.00567
NM_004260.4(RECQL4):c.309G>A (p.Pro103=) rs4251688 0.00564
NM_002449.5(MSX2):c.*466G>A rs148083483 0.00560
NM_023110.3(FGFR1):c.*2099T>G rs16887356 0.00560
NM_004260.4(RECQL4):c.1395G>A (p.Thr465=) rs34948955 0.00557
NM_052989.3(IFT122):c.3303G>T (p.Gly1101=) rs111668739 0.00548
NM_001271938.2(MEGF8):c.8466C>A (p.Gly2822=) rs576629405 0.00506
NM_001271938.2(MEGF8):c.8467A>G (p.Ser2823Gly) rs537269414 0.00506
NM_052989.3(IFT122):c.1239G>A (p.Glu413=) rs111717774 0.00480
NM_001271938.2(MEGF8):c.5316G>A (p.Leu1772=) rs112433681 0.00470
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp) rs61744639 0.00451
NM_004260.4(RECQL4):c.195C>G (p.Leu65=) rs369163654 0.00449
NM_052989.3(IFT122):c.2349C>A (p.Ile783=) rs114357746 0.00442
NM_052989.3(IFT122):c.1993-8C>T rs531091599 0.00439
NM_004260.4(RECQL4):c.2755+16dup rs35544622 0.00430
NM_052989.3(IFT122):c.1113C>T (p.Asp371=) rs139319087 0.00429
NM_004260.4(RECQL4):c.1090G>A (p.Val364Met) rs144637135 0.00427
NM_016277.5(RAB23):c.-23C>T rs145059995 0.00424
NM_004260.4(RECQL4):c.3503-20G>A rs372780200 0.00422
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638 0.00418
NM_000141.5(FGFR2):c.159G>A (p.Ala53=) rs1047102 0.00414
NM_023110.3(FGFR1):c.*2188T>C rs146463691 0.00411
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_001271938.2(MEGF8):c.4440C>T (p.Cys1480=) rs138473998 0.00407
NM_000141.5(FGFR2):c.*324A>G rs150519853 0.00402
NM_023110.3(FGFR1):c.-286C>T rs4647909 0.00398
NM_001271938.2(MEGF8):c.352-4G>A rs143955737 0.00396
NM_023110.3(FGFR1):c.*569C>T rs17182470 0.00392
NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr) rs35348691 0.00390
NM_002449.5(MSX2):c.*1007T>A rs74292295 0.00387
NM_002449.5(MSX2):c.*257T>C rs187794452 0.00385
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464 0.00371
NM_004260.4(RECQL4):c.1704+9C>T rs35876881 0.00365
NM_020779.4(WDR35):c.2414+20C>T rs116756504 0.00361
NM_000141.5(FGFR2):c.*184C>T rs4647917 0.00359
NM_004260.4(RECQL4):c.543G>A (p.Gln181=) rs34159914 0.00353
NM_000141.5(FGFR2):c.-358C>T rs41301545 0.00345
NM_052989.3(IFT122):c.1908T>C (p.Ile636=) rs139722192 0.00334
NM_003036.4(SKI):c.1410C>T (p.Pro470=) rs150985728 0.00322
NM_002449.5(MSX2):c.*723A>C rs115604243 0.00315
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495 0.00313
NM_004260.4(RECQL4):c.2377C>T (p.Pro793Ser) rs35098923 0.00307
NM_023110.3(FGFR1):c.-209G>C rs572216432 0.00306
NM_052989.3(IFT122):c.321A>G (p.Gln107=) rs138793724 0.00299
NM_000141.5(FGFR2):c.1572A>G (p.Thr524=) rs74160613 0.00298
NM_004260.4(RECQL4):c.3313G>A (p.Gly1105Ser) rs34915097 0.00296
NM_000141.5(FGFR2):c.-74G>A rs4647922 0.00294
NM_004260.4(RECQL4):c.3058G>A (p.Val1020Met) rs114149451 0.00287
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_020779.4(WDR35):c.2262C>T (p.Asp754=) rs147206032 0.00285
NM_001271938.2(MEGF8):c.5488+12T>C rs188285054 0.00284
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=) rs149884307 0.00277
NM_004260.4(RECQL4):c.3609C>T (p.Leu1203=) rs201384843 0.00276
NM_004260.4(RECQL4):c.3392G>A (p.Arg1131Lys) rs201369291 0.00274
NM_023110.3(FGFR1):c.*994T>C rs17176081 0.00273
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu) rs56226109 0.00271
NM_001271938.2(MEGF8):c.6481+11T>G rs138919410 0.00270
NM_003036.4(SKI):c.1527C>T (p.Ser509=) rs111935632 0.00270
NM_001271938.2(MEGF8):c.5320G>C (p.Glu1774Gln) rs149787596 0.00266
NM_004260.4(RECQL4):c.2463+7del rs760575376 0.00265
NM_020779.4(WDR35):c.318T>C (p.Ile106=) rs115963122 0.00263
NM_004260.4(RECQL4):c.1620+16C>T rs35569304 0.00262
NM_004260.4(RECQL4):c.3435G>C (p.Gln1145His) rs61755066 0.00261
NM_020779.4(WDR35):c.2964+12C>T rs113663112 0.00252
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro) rs3750819 0.00250
NM_023110.3(FGFR1):c.*906A>T rs139347382 0.00249
NM_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_004260.4(RECQL4):c.1390+3G>A rs148912524 0.00246
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_001271938.2(MEGF8):c.5721-10T>C rs188531875 0.00240
NM_000141.5(FGFR2):c.1539C>T (p.Thr513=) rs74160617 0.00234
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val) rs148242353 0.00233
NM_004260.4(RECQL4):c.2463+6C>T rs35029361 0.00229
NM_004260.4(RECQL4):c.891C>T (p.Asp297=) rs34700133 0.00227
NM_025132.4(WDR19):c.1915A>G (p.Ser639Gly) rs150649460 0.00222
NM_023110.3(FGFR1):c.*723G>C rs17182477 0.00220
NM_002449.5(MSX2):c.*1249T>C rs139249455 0.00219
NM_052989.3(IFT122):c.2294A>C (p.Lys765Thr) rs146026277 0.00212
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=) rs76881473 0.00206
NM_004260.4(RECQL4):c.565G>A (p.Gly189Ser) rs34371341 0.00204
NM_004260.4(RECQL4):c.2817G>A (p.Ala939=) rs202045203 0.00203
NM_020779.4(WDR35):c.1524+11C>A rs200213874 0.00201
NM_004260.4(RECQL4):c.2223C>T (p.Ala741=) rs34271972 0.00198
NM_000141.5(FGFR2):c.-46G>A rs201606812 0.00193
NM_001271938.2(MEGF8):c.5412G>A (p.Ser1804=) rs139648725 0.00193
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe) rs149667250 0.00188
NM_000141.5(FGFR2):c.2001C>G (p.Val667=) rs61731218 0.00187
NM_052989.3(IFT122):c.273-331C>A rs116196975 0.00187
NM_000141.5(FGFR2):c.1673-12C>T rs41293763 0.00186
NM_023110.3(FGFR1):c.*1439T>C rs11990198 0.00186
NM_003036.4(SKI):c.1211+19C>T rs182600375 0.00178
NM_001271938.2(MEGF8):c.7041C>T (p.Asp2347=) rs145886667 0.00177
NM_004260.4(RECQL4):c.2544C>T (p.Arg848=) rs200114521 0.00169
NM_000141.5(FGFR2):c.*111G>A rs574474794 0.00164
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His) rs148436608 0.00161
NM_000141.5(FGFR2):c.*1301C>T rs71640261 0.00159
NM_004260.4(RECQL4):c.615C>G (p.Pro205=) rs35639991 0.00159
NM_004260.4(RECQL4):c.3394-11T>C rs370677156 0.00158
NM_001271938.2(MEGF8):c.7731C>T (p.Tyr2577=) rs3745237 0.00153
NM_023110.3(FGFR1):c.336C>T (p.Thr112=) rs148480919 0.00153
NM_000141.5(FGFR2):c.454+14C>T rs112142377 0.00152
NM_001271938.2(MEGF8):c.6641+9G>A rs112519292 0.00145
NM_023110.3(FGFR1):c.*1498C>T rs17182484 0.00141
NM_006494.4(ERF):c.24G>A (p.Gly8=) rs200969503 0.00135
NM_000141.5(FGFR2):c.939+11T>C rs145303463 0.00134
NM_002449.5(MSX2):c.*1050T>C rs184931219 0.00133
NM_006494.4(ERF):c.1192G>A (p.Gly398Ser) rs111793182 0.00133
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_000141.5(FGFR2):c.-61G>T rs3135721 0.00130
NM_003036.4(SKI):c.1338C>T (p.Leu446=) rs148632347 0.00130
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val) rs146709578 0.00129
NM_052989.3(IFT122):c.3462G>A (p.Leu1154=) rs150692598 0.00125
NM_001271938.2(MEGF8):c.4504-14G>A rs111624233 0.00124
NM_020779.4(WDR35):c.1755C>T (p.Val585=) rs146130105 0.00124
NM_004260.4(RECQL4):c.3594G>A (p.Leu1198=) rs146398243 0.00122
NM_020779.4(WDR35):c.*2623T>C rs538967974 0.00121
NM_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe) rs35346077 0.00119
NM_004260.4(RECQL4):c.1398G>A (p.Pro466=) rs145615931 0.00116
NM_020779.4(WDR35):c.*2622A>G rs558837510 0.00116
NM_023110.3(FGFR1):c.449-9C>G rs17182303 0.00115
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031 0.00107
NM_001102564.3(IFT43):c.54+15G>T rs372505367 0.00105
NM_023110.3(FGFR1):c.-124G>A rs17182079 0.00103
NM_052989.3(IFT122):c.2433C>T (p.Cys811=) rs141626835 0.00103
NM_002449.5(MSX2):c.*635G>A rs192627117 0.00101
NM_004260.4(RECQL4):c.2460C>T (p.Pro820=) rs202078917 0.00098
NM_020779.4(WDR35):c.1471-7A>G rs376388391 0.00098
NM_020779.4(WDR35):c.437-13T>C rs367802842 0.00098
NM_001271938.2(MEGF8):c.918C>T (p.Asp306=) rs373759775 0.00097
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284 0.00097
NM_020779.4(WDR35):c.142+10T>C rs186647997 0.00096
NM_052989.3(IFT122):c.825G>T (p.Lys275Asn) rs117517364 0.00095
NM_020779.4(WDR35):c.507A>G (p.Lys169=) rs200495720 0.00094
NM_023110.3(FGFR1):c.1081+20C>T rs17175982 0.00092
NM_003036.4(SKI):c.1851G>A (p.Glu617=) rs146789646 0.00091
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712 0.00089
NM_052989.3(IFT122):c.41+15G>T rs36222038 0.00084
NM_004260.4(RECQL4):c.2464-16G>A rs531951007 0.00079
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=) rs56174879 0.00079
NM_003036.4(SKI):c.417C>T (p.Ile139=) rs144874401 0.00076
NM_025132.4(WDR19):c.3261+12G>A rs137960733 0.00076
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) rs200059077 0.00073
NM_023110.3(FGFR1):c.*1770G>A rs183394116 0.00072
NM_023110.3(FGFR1):c.1855-16C>T rs371160786 0.00071
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His) rs201734382 0.00070
NM_020779.4(WDR35):c.1401-15T>G rs201903683 0.00068
NM_001271938.2(MEGF8):c.495G>C (p.Gly165=) rs146885610 0.00066
NM_004260.4(RECQL4):c.85-13G>T rs568000575 0.00065
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg) rs75621037 0.00065
NM_003036.4(SKI):c.1308C>T (p.Ala436=) rs139034124 0.00064
NM_004260.4(RECQL4):c.1621-8A>G rs373357384 0.00064
NM_004260.4(RECQL4):c.3009G>A (p.Val1003=) rs34919378 0.00062
NM_004260.4(RECQL4):c.1348G>A (p.Val450Met) rs200941778 0.00059
NM_006494.4(ERF):c.1046C>T (p.Pro349Leu) rs144812092 0.00058
NM_023110.3(FGFR1):c.2361G>A (p.Thr787=) rs200408837 0.00058
NM_052989.3(IFT122):c.3392-20C>T rs200747264 0.00058
NM_020779.4(WDR35):c.*487C>T rs116951767 0.00056
NM_006494.4(ERF):c.840G>A (p.Ser280=) rs145699948 0.00053
NM_001271938.2(MEGF8):c.4152C>T (p.Leu1384=) rs34225188 0.00052
NM_001271938.2(MEGF8):c.4781G>A (p.Arg1594His) rs141153248 0.00051
NM_000474.4(TWIST1):c.369G>C (p.Ser123=) rs144664279 0.00049
NM_001102564.3(IFT43):c.486G>A (p.Ala162=) rs143729954 0.00049
NM_001271938.2(MEGF8):c.402C>T (p.Asn134=) rs117439608 0.00048
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00047
NM_003036.4(SKI):c.1734C>T (p.Ser578=) rs117443908 0.00046
NM_004260.4(RECQL4):c.3143A>G (p.Lys1048Arg) rs202203322 0.00044
NM_004260.4(RECQL4):c.355-8C>T rs368782236 0.00044
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) rs140382957 0.00043
NM_004260.4(RECQL4):c.1576C>T (p.Leu526Phe) rs200732690 0.00041
NM_006494.4(ERF):c.405G>A (p.Val135=) rs144678577 0.00041
NM_023110.3(FGFR1):c.1854+19C>T rs199830036 0.00041
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=) rs201490643 0.00041
NM_025132.4(WDR19):c.13+15G>A rs150633358 0.00041
NM_000141.5(FGFR2):c.2190C>T (p.Asn730=) rs55637244 0.00040
NM_023110.3(FGFR1):c.1553-13G>A rs17182414 0.00040
NM_023110.3(FGFR1):c.*1211G>T rs185104092 0.00038
NM_001271938.2(MEGF8):c.5524G>C (p.Val1842Leu) rs143508185 0.00037
NM_004260.4(RECQL4):c.2426G>A (p.Gly809Glu) rs550469990 0.00036
NM_023110.3(FGFR1):c.*113G>A rs180885042 0.00036
NM_052989.3(IFT122):c.2625C>T (p.Asn875=) rs76572254 0.00036
NM_004260.4(RECQL4):c.2724T>C (p.Leu908=) rs368908286 0.00034
NM_023110.3(FGFR1):c.1398C>T (p.Pro466=) rs150652786 0.00034
NM_000141.5(FGFR2):c.-135C>T rs554557891 0.00033
NM_003036.4(SKI):c.516C>T (p.Pro172=) rs182513685 0.00032
NM_006494.4(ERF):c.1614G>A (p.Thr538=) rs183334082 0.00030
NM_000141.5(FGFR2):c.*674G>T rs566155088 0.00029
NM_006494.4(ERF):c.673C>T (p.Leu225=) rs35578793 0.00029
NM_023110.3(FGFR1):c.2424C>G (p.Pro808=) rs374507681 0.00029
NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys) rs17182463 0.00029
NM_003036.4(SKI):c.1767+9G>C rs181520853 0.00028
NM_023110.3(FGFR1):c.359-4A>G rs185233212 0.00027
NM_004260.4(RECQL4):c.1872C>T (p.Val624=) rs201815449 0.00026
NM_004260.4(RECQL4):c.3495C>T (p.His1165=) rs202083938 0.00026
NM_000141.5(FGFR2):c.1085-13A>T rs41295573 0.00024
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met) rs200629599 0.00024
NM_003036.4(SKI):c.1474+15C>T rs369979606 0.00023
NM_004260.4(RECQL4):c.901G>A (p.Glu301Lys) rs34633809 0.00023
NM_002449.5(MSX2):c.*1178C>T rs182072112 0.00021
NM_052989.3(IFT122):c.1533G>A (p.Leu511=) rs183614690 0.00021
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr) rs749672769 0.00019
NM_003036.4(SKI):c.1095+18G>A rs748998967 0.00016
NM_003036.4(SKI):c.1440G>A (p.Ser480=) rs185754530 0.00016
NM_004260.4(RECQL4):c.2131G>A (p.Glu711Lys) rs371818842 0.00016
NM_004260.4(RECQL4):c.2467G>A (p.Glu823Lys) rs368611522 0.00016
NM_023110.3(FGFR1):c.1269G>A (p.Leu423=) rs144131616 0.00016
NM_023110.3(FGFR1):c.304G>A (p.Val102Ile) rs55642501 0.00016
NM_052989.3(IFT122):c.1009-14C>T rs202155515 0.00016
NM_023110.3(FGFR1):c.*963C>T rs567128409 0.00015
NM_023110.3(FGFR1):c.1082-13C>T rs185831613 0.00015
NM_004260.4(RECQL4):c.1899C>T (p.Gly633=) rs557065974 0.00014
NM_023110.3(FGFR1):c.1386G>A (p.Glu462=) rs375796487 0.00014
NM_003036.4(SKI):c.1254C>T (p.Asn418=) rs536126761 0.00013
NM_004260.4(RECQL4):c.492G>A (p.Glu164=) rs368335924 0.00013
NM_020779.4(WDR35):c.765C>T (p.Tyr255=) rs117255034 0.00013
NM_000141.5(FGFR2):c.625-10A>G rs201512833 0.00011
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302 0.00011
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=) rs144673252 0.00011
NM_001271938.2(MEGF8):c.8139C>T (p.Ser2713=) rs199681302 0.00011
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=) rs181975379 0.00011
NM_052989.3(IFT122):c.416+12T>C rs141969308 0.00011
NM_020779.4(WDR35):c.2835A>G (p.Glu945=) rs182928585 0.00010
NM_023110.3(FGFR1):c.75G>A (p.Pro25=) rs17175757 0.00010
NM_052989.3(IFT122):c.229G>A (p.Val77Ile) rs369525803 0.00010
NM_000141.5(FGFR2):c.33C>T (p.Val11=) rs200562301 0.00009
NM_000474.4(TWIST1):c.330G>A (p.Arg110=) rs199932465 0.00009
NM_001271938.2(MEGF8):c.1572C>T (p.Ser524=) rs375943387 0.00009
NM_004260.4(RECQL4):c.2874C>T (p.Ala958=) rs748601844 0.00009
NM_004260.4(RECQL4):c.633T>C (p.Asp211=) rs571624962 0.00009
NM_023110.3(FGFR1):c.375G>A (p.Ser125=) rs17182296 0.00009
NM_052989.3(IFT122):c.3570G>T (p.Leu1190=) rs146778076 0.00009
NM_001271938.2(MEGF8):c.2919C>T (p.His973=) rs766105588 0.00008
NM_001271938.2(MEGF8):c.4743G>C (p.Met1581Ile) rs77422116 0.00008
NM_002449.5(MSX2):c.699G>A (p.Ala233=) rs201880865 0.00008
NM_004260.4(RECQL4):c.1625C>T (p.Ser542Phe) rs369852601 0.00008
NM_004260.4(RECQL4):c.171C>T (p.Gly57=) rs758179747 0.00008
NM_020779.4(WDR35):c.867C>T (p.Tyr289=) rs185888517 0.00008
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=) rs746123129 0.00008
NM_023110.3(FGFR1):c.297T>C (p.Tyr99=) rs552562422 0.00008
NM_004260.4(RECQL4):c.2756-8G>T rs372723857 0.00007
NM_023110.3(FGFR1):c.*2434C>T rs565758830 0.00007
NM_023110.3(FGFR1):c.359-13C>G rs376369060 0.00007
NM_052989.3(IFT122):c.2375+13C>T rs749785449 0.00007
NM_000141.5(FGFR2):c.1548G>A (p.Val516=) rs200522893 0.00006
NM_001102564.3(IFT43):c.55-17T>C rs200685248 0.00006
NM_002449.5(MSX2):c.*1206T>C rs77229212 0.00006
NM_004260.4(RECQL4):c.2634C>A (p.Pro878=) rs769166199 0.00006
NM_023110.3(FGFR1):c.1285-15C>T rs760069564 0.00006
NM_052989.3(IFT122):c.1992+7A>G rs757823317 0.00006
NM_001271938.2(MEGF8):c.1116C>T (p.Ser372=) rs746659886 0.00005
NM_001271938.2(MEGF8):c.5751A>G (p.Pro1917=) rs200526872 0.00005
NM_003036.4(SKI):c.994A>G (p.Ile332Val) rs374264201 0.00005
NM_004260.4(RECQL4):c.755C>T (p.Pro252Leu) rs199773279 0.00005
NM_000142.5(FGFR3):c.1960-7C>T rs779177992 0.00004
NM_003036.4(SKI):c.1041C>T (p.Ser347=) rs140745811 0.00004
NM_003036.4(SKI):c.138C>T (p.Ala46=) rs745527890 0.00004
NM_004260.4(RECQL4):c.1959A>G (p.Ala653=) rs574411332 0.00004
NM_004260.4(RECQL4):c.3531C>T (p.Tyr1177=) rs139228543 0.00004
NM_006494.4(ERF):c.132C>T (p.Gly44=) rs192294053 0.00004
NM_006494.4(ERF):c.514C>T (p.Leu172Phe) rs763588724 0.00004
NM_016277.5(RAB23):c.534T>C (p.Ala178=) rs201820320 0.00004
NM_020779.4(WDR35):c.1053T>C (p.Pro351=) rs74385826 0.00004
NM_023110.3(FGFR1):c.1176G>A (p.Gly392=) rs56273573 0.00004
NM_023110.3(FGFR1):c.449-8C>A rs551551806 0.00004
NM_023110.3(FGFR1):c.92-14C>T rs547772178 0.00004
NM_002449.5(MSX2):c.-42C>T rs758437365 0.00003
NM_003036.4(SKI):c.1272G>A (p.Pro424=) rs552946737 0.00003
NM_003036.4(SKI):c.1573G>A (p.Val525Ile) rs141961299 0.00003
NM_023110.3(FGFR1):c.449-7C>T rs754454127 0.00003
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_003036.4(SKI):c.190G>A (p.Val64Met) rs754036418 0.00002
NM_004260.4(RECQL4):c.969C>T (p.Ser323=) rs745658597 0.00002
NM_023110.3(FGFR1):c.448+20C>T rs767029419 0.00002
NM_000141.5(FGFR2):c.1213A>G (p.Lys405Glu) rs772986332 0.00001
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu) rs79184941 0.00001
NM_001271938.2(MEGF8):c.3603C>T (p.Asn1201=) rs540512909 0.00001
NM_001271938.2(MEGF8):c.4359C>T (p.Cys1453=) rs369967292 0.00001
NM_002449.5(MSX2):c.315G>C (p.Lys105Asn) rs760574628 0.00001
NM_003036.4(SKI):c.471G>A (p.Gln157=) rs569206617 0.00001
NM_003036.4(SKI):c.504C>T (p.Pro168=) rs774588048 0.00001
NM_004260.4(RECQL4):c.3246C>T (p.Phe1082=) rs748604051 0.00001
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606 0.00001
NM_016277.5(RAB23):c.93A>G (p.Lys31=) rs201735614 0.00001
NM_020779.4(WDR35):c.1845+16G>A rs376710057 0.00001
NM_023110.3(FGFR1):c.1308C>T (p.Ser436=) rs546318124 0.00001
NM_023110.3(FGFR1):c.274G>A (p.Val92Met) rs755828990 0.00001
NM_023110.3(FGFR1):c.359-7C>T rs749216266 0.00001
NM_023110.3(FGFR1):c.66G>C (p.Arg22Ser) rs17175750 0.00001
NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu) rs143341876 0.00001
NM_023110.3(FGFR1):c.787G>A (p.Ala263Thr) rs747978107 0.00001
NM_000141.5(FGFR2):c.-236G>A rs1047111
NM_000141.5(FGFR2):c.-236G>C rs1047111
NM_000141.5(FGFR2):c.-626C>A rs549524538
NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys) rs764959117
NM_000141.5(FGFR2):c.696A>G (p.Val232=) rs1047100
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.260_274dup (p.Ala87_Gly91dup) rs760471055
NM_001271938.2(MEGF8):c.1143G>A (p.Pro381=)
NM_001271938.2(MEGF8):c.1197C>T (p.Pro399=) rs149190709
NM_001271938.2(MEGF8):c.2299-15_2299-12del rs141582110
NM_001271938.2(MEGF8):c.3350+16dup
NM_001271938.2(MEGF8):c.5344-14del
NM_001271938.2(MEGF8):c.5489-18T>C
NM_001271938.2(MEGF8):c.5686C>T (p.His1896Tyr)
NM_001271938.2(MEGF8):c.5720+11C>T
NM_001271938.2(MEGF8):c.6084G>A (p.Val2028=) rs547635717
NM_001271938.2(MEGF8):c.6482-16A>G
NM_001271938.2(MEGF8):c.6888C>T (p.Gly2296=)
NM_001271938.2(MEGF8):c.7136+12C>T rs375712517
NM_001271938.2(MEGF8):c.828+11del rs2147449280
NM_002449.5(MSX2):c.*1006dup rs397692104
NM_002449.5(MSX2):c.*157A>T rs17063878
NM_002449.5(MSX2):c.*172G>A rs577291689
NM_002449.5(MSX2):c.*878C>T rs554272174
NM_002449.5(MSX2):c.-56C>A rs113874536
NM_003036.4(SKI):c.1311C>G (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_004260.4(RECQL4):c.1028C>T (p.Pro343Leu) rs549381989
NM_004260.4(RECQL4):c.1131+9G>A rs373765596
NM_004260.4(RECQL4):c.1132-3del
NM_004260.4(RECQL4):c.1132-8dup rs747674070
NM_004260.4(RECQL4):c.1237_1238delinsAG (p.Ala413Arg) rs587778652
NM_004260.4(RECQL4):c.1484-7del rs772909792
NM_004260.4(RECQL4):c.2059-8_2059-6del rs558061753
NM_004260.4(RECQL4):c.2086C>A (p.Arg696Ser) rs531970883
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly) rs34642881
NM_004260.4(RECQL4):c.213+6del rs535285068
NM_004260.4(RECQL4):c.2296del (p.Arg766fs) rs1827625671
NM_004260.4(RECQL4):c.2557TGCACC[2] (p.853CT[2]) rs548804317
NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4]) rs548804317
NM_004260.4(RECQL4):c.2601C>G (p.Ala867=) rs34358597
NM_004260.4(RECQL4):c.274_275delinsCT (p.Ser92Leu) rs587778649
NM_004260.4(RECQL4):c.2756-3dup
NM_004260.4(RECQL4):c.3055+19del rs1564790269
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.4(RECQL4):c.3393+8_3393+9inv
NM_004260.4(RECQL4):c.3503-20GT[3] rs755908070
NM_004260.4(RECQL4):c.3563T>C (p.Leu1188Pro) rs535259922
NM_004260.4(RECQL4):c.465C>G (p.Val155=) rs116137512
NM_005816.5(CD96):c.*2093del rs200341777
NM_006494.4(ERF):c.408G>A (p.Pro136=)
NM_006494.4(ERF):c.615C>G (p.Arg205=) rs11557114
NM_016277.5(RAB23):c.242-31ATTG[6] rs45542438
NM_016277.5(RAB23):c.399-15dup
NM_016277.5(RAB23):c.481+17G>A
NM_020779.4(WDR35):c.*978A>G rs149444449
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro) rs76623454
NM_020779.4(WDR35):c.1846-11dup rs754138477
NM_020779.4(WDR35):c.24+17dup
NM_020779.4(WDR35):c.2622A>T (p.Pro874=)
NM_023110.3(FGFR1):c.*1052C>T rs17176088
NM_023110.3(FGFR1):c.*1982A>C rs536000259
NM_023110.3(FGFR1):c.*494A>G rs562843836
NM_023110.3(FGFR1):c.1430+7_1430+9del rs772340109
NM_023110.3(FGFR1):c.194A>G (p.Asn65Ser)
NM_023110.3(FGFR1):c.221C>T (p.Ala74Val)
NM_052989.3(IFT122):c.108+10dup
NM_052989.3(IFT122):c.1713G>T (p.Ser571=) rs150174636
NM_052989.3(IFT122):c.1836C>T (p.Ala612=)
NM_052989.3(IFT122):c.1993-7G>C rs2285354
NM_052989.3(IFT122):c.273-266G>A
NM_052989.3(IFT122):c.3051C>T (p.His1017=) rs538635135

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.