ClinVar Miner

List of variants reported as benign for syndromic craniosynostosis by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 334
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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_004260.4(RECQL4):c.132A>G (p.Glu44=) rs2306386 0.54741
NM_020779.4(WDR35):c.2496A>G (p.Glu832=) rs6741091 0.45165
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_020779.4(WDR35):c.2915A>G (p.Glu972Gly) rs1191778 0.31383
NM_001271938.2(MEGF8):c.2430T>C (p.Asn810=) rs28621009 0.14431
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_020779.4(WDR35):c.3121+12A>C rs28502265 0.10214
NM_052989.3(IFT122):c.1147+19C>T rs2301570 0.10129
NM_001271938.2(MEGF8):c.5272A>G (p.Lys1758Glu) rs1206038 0.08528
NM_001271938.2(MEGF8):c.1934-7T>C rs1206044 0.08176
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_020779.4(WDR35):c.2599G>A (p.Ala867Thr) rs2293669 0.05563
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811 0.05253
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.549C>T (p.Tyr183=) rs34169020 0.03645
NM_001271938.2(MEGF8):c.4020C>T (p.Tyr1340=) rs35473255 0.03322
NM_001271938.2(MEGF8):c.5475G>A (p.Leu1825=) rs116630802 0.03297
NM_004260.4(RECQL4):c.1772C>T (p.Pro591Leu) rs2721191 0.02663
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_004260.4(RECQL4):c.1258+6A>T rs34437789 0.02229
NM_004260.4(RECQL4):c.1565G>A (p.Arg522His) rs35842750 0.02097
NM_004260.4(RECQL4):c.3393+9A>G rs4251692 0.02095
NM_004260.4(RECQL4):c.2395G>A (p.Val799Met) rs34293591 0.01793
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_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_052989.3(IFT122):c.3265+7C>T rs9836202 0.01370
NM_003036.4(SKI):c.99C>G (p.Gly33=) rs200019352 0.01364
NM_001271938.2(MEGF8):c.3433C>T (p.Leu1145=) rs115335139 0.01335
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_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_004260.4(RECQL4):c.2636C>A (p.Pro879His) rs137975310 0.00913
NM_052989.3(IFT122):c.2682G>A (p.Ala894=) rs61741773 0.00905
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_020779.4(WDR35):c.1089G>A (p.Thr363=) rs79829477 0.00817
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_001271938.2(MEGF8):c.5634C>T (p.Arg1878=) rs62648096 0.00664
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_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_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_004260.4(RECQL4):c.3503-20G>A rs372780200 0.00422
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638 0.00418
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_001271938.2(MEGF8):c.352-4G>A rs143955737 0.00396
NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr) rs35348691 0.00390
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_004260.4(RECQL4):c.543G>A (p.Gln181=) rs34159914 0.00353
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_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495 0.00313
NM_004260.4(RECQL4):c.2377C>T (p.Pro793Ser) rs35098923 0.00307
NM_052989.3(IFT122):c.321A>G (p.Gln107=) rs138793724 0.00299
NM_004260.4(RECQL4):c.3313G>A (p.Gly1105Ser) rs34915097 0.00296
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_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_004260.4(RECQL4):c.1390+3G>A rs148912524 0.00246
NM_001271938.2(MEGF8):c.5721-10T>C rs188531875 0.00240
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_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_001271938.2(MEGF8):c.5412G>A (p.Ser1804=) rs139648725 0.00193
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe) rs149667250 0.00188
NM_052989.3(IFT122):c.273-331C>A rs116196975 0.00187
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_020779.4(WDR35):c.3279G>C (p.Gln1093His) rs148436608 0.00161
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_001271938.2(MEGF8):c.6641+9G>A rs112519292 0.00145
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
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_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe) rs35346077 0.00119
NM_004260.4(RECQL4):c.1398G>A (p.Pro466=) rs145615931 0.00116
NM_023110.3(FGFR1):c.449-9C>G rs17182303 0.00115
NM_052989.3(IFT122):c.2433C>T (p.Cys811=) rs141626835 0.00103
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_020779.4(WDR35):c.853A>T (p.Ile285Phe) rs200059077 0.00073
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_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_052989.3(IFT122):c.3392-20C>T rs200747264 0.00058
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_001271938.2(MEGF8):c.402C>T (p.Asn134=) rs117439608 0.00048
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_023110.3(FGFR1):c.1854+19C>T rs199830036 0.00041
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=) rs201490643 0.00041
NM_023110.3(FGFR1):c.1553-13G>A rs17182414 0.00040
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_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_003036.4(SKI):c.516C>T (p.Pro172=) rs182513685 0.00032
NM_023110.3(FGFR1):c.2424C>G (p.Pro808=) rs374507681 0.00029
NM_003036.4(SKI):c.1767+9G>C rs181520853 0.00028
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_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_052989.3(IFT122):c.1533G>A (p.Leu511=) rs183614690 0.00021
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_004260.4(RECQL4):c.1899C>T (p.Gly633=) rs557065974 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_001006657.2(WDR35):c.1215A>G (p.Thr405=) rs144673252 0.00011
NM_001271938.2(MEGF8):c.8139C>T (p.Ser2713=) rs199681302 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_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_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.359-13C>G rs376369060 0.00007
NM_052989.3(IFT122):c.2375+13C>T rs749785449 0.00007
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_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_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_003036.4(SKI):c.1573G>A (p.Val525Ile) rs141961299 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_001271938.2(MEGF8):c.3603C>T (p.Asn1201=) rs540512909 0.00001
NM_001271938.2(MEGF8):c.4359C>T (p.Cys1453=) rs369967292 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.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.359-7C>T rs749216266 0.00001
NM_023110.3(FGFR1):c.66G>C (p.Arg22Ser) rs17175750 0.00001
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.828+11del rs2147449280
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.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_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.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.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

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