ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 312
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HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.-5A>G rs384573 1.00000
NM_005633.4(SOS1):c.2791+53C>T rs7577088 0.94549
NM_005633.4(SOS1):c.720+25C>G rs997344 0.92897
NM_001360.3(DHCR7):c.438T>C (p.Asn146=) rs949177 0.90629
NM_001360.3(DHCR7):c.207T>C (p.Thr69=) rs1790334 0.90380
NM_001360.3(DHCR7):c.1158T>C (p.Asp386=) rs760241 0.85831
NM_001360.3(DHCR7):c.189G>A (p.Gln63=) rs1044482 0.59041
NM_001360.3(DHCR7):c.1272C>T (p.Gly424=) rs909217 0.56172
NM_003482.4(KMT2D):c.7479G>T (p.Gly2493=) rs10747559 0.42978
NM_003482.4(KMT2D):c.10836G>A (p.Gln3612=) rs3782357 0.42594
NM_030662.4(MAP2K2):c.660C>A (p.Ile220=) rs10250 0.42547
NM_003482.4(KMT2D):c.2826C>T (p.Ile942=) rs2241726 0.39054
NM_002834.5(PTPN11):c.1600-95C>T rs3741983 0.37076
NM_001360.3(DHCR7):c.626+15G>A rs736894 0.30458
NM_003482.4(KMT2D):c.12510A>G (p.Pro4170=) rs3741622 0.25778
NM_030662.4(MAP2K2):c.453C>T (p.Asp151=) rs17851657 0.13902
NM_003482.4(KMT2D):c.1426G>A (p.Ala476Thr) rs1064210 0.09584
NM_001360.3(DHCR7):c.231C>T (p.Thr77=) rs4316537 0.08662
NM_030662.4(MAP2K2):c.192C>T (p.Val64=) rs8157 0.06496
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_003244.4(TGIF1):c.487C>T (p.Pro163Ser) rs4468717 0.06068
NM_002834.5(PTPN11):c.14+25G>C rs7972574 0.05545
NM_002834.5(PTPN11):c.854-21C>T rs41279090 0.05308
NM_001360.3(DHCR7):c.321+34C>A rs76865413 0.05265
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811 0.05253
NM_030662.4(MAP2K2):c.405G>C (p.Gly135=) rs10424722 0.04706
NM_003244.4(TGIF1):c.488C>T (p.Pro163Leu) rs2229333 0.04416
NM_002834.5(PTPN11):c.14+54C>A rs7973432 0.04259
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn) rs17122201 0.02622
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179 0.02602
NM_001378964.1(CDON):c.3526G>A (p.Val1176Ile) rs78304400 0.02598
NM_001378964.1(CDON):c.197A>G (p.Lys66Arg) rs7122277 0.02566
NM_133459.4(CCBE1):c.988-10A>G rs115490148 0.02376
NM_005633.4(SOS1):c.3081+32A>G rs6723430 0.02350
NM_001378964.1(CDON):c.1851+14G>A rs113328989 0.02329
NM_001378964.1(CDON):c.1603G>A (p.Ala535Thr) rs76247998 0.02319
NM_003482.4(KMT2D):c.4020+27A>G rs77395760 0.02314
NM_001378964.1(CDON):c.2623A>G (p.Ser875Gly) rs115533243 0.02079
NM_007129.5(ZIC2):c.1326C>T (p.Ser442=) rs182192729 0.02065
NM_003482.4(KMT2D):c.5217C>T (p.Gly1739=) rs111924728 0.01973
NM_003482.4(KMT2D):c.8091C>T (p.Arg2697=) rs116686402 0.01940
NM_133459.4(CCBE1):c.123C>A (p.Asp41Glu) rs80008675 0.01868
NM_001378964.1(CDON):c.1296G>A (p.Pro432=) rs11220313 0.01713
NM_003482.4(KMT2D):c.7188T>C (p.Cys2396=) rs111305262 0.01710
NM_030973.4(MED25):c.1483-7C>T rs2017698 0.01612
NM_001378964.1(CDON):c.1051C>G (p.Pro351Ala) rs35665264 0.01595
NM_030973.4(MED25):c.-12A>G rs114843375 0.01532
NM_001879.6(MASP1):c.1703T>C (p.Val568Ala) rs13322090 0.01525
NM_030973.4(MED25):c.2031G>A (p.Ala677=) rs57854058 0.01517
NM_003482.4(KMT2D):c.11610G>A (p.Met3870Ile) rs73302195 0.01486
NM_014822.4(SEC24D):c.125T>C (p.Met42Thr) rs10029206 0.01448
NM_003036.4(SKI):c.99C>G (p.Gly33=) rs200019352 0.01364
NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=) rs73302197 0.01361
NM_001360.3(DHCR7):c.627-29T>G rs74742701 0.01323
NM_007373.4(SHOC2):c.457C>T (p.Leu153=) rs34081996 0.01281
NM_139125.4(MASP1):c.1277G>A (p.Gly426Glu) rs28945068 0.01228
NM_133459.4(CCBE1):c.837C>T (p.Pro279=) rs61745250 0.01198
NM_003036.4(SKI):c.294C>T (p.Thr98=) rs115746142 0.01188
NM_003244.4(TGIF1):c.16+1632C>T rs114378990 0.01187
NM_001360.3(DHCR7):c.570C>T (p.Ala190=) rs74909468 0.01097
NM_005633.4(SOS1):c.1203-20T>C rs112906251 0.01058
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707 0.01025
NM_001360.3(DHCR7):c.99-4G>A rs140748737 0.00988
NM_001360.3(DHCR7):c.25A>T (p.Ile9Phe) rs115595829 0.00983
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447 0.00976
NM_006939.4(SOS2):c.2162-4C>A rs57179949 0.00961
NM_003036.4(SKI):c.1211+11G>A rs115186522 0.00934
NM_014822.4(SEC24D):c.653C>G (p.Ala218Gly) rs35392900 0.00928
NM_002834.5(PTPN11):c.854-30T>C rs144391508 0.00909
NM_014822.4(SEC24D):c.1576C>T (p.Leu526Phe) rs141180741 0.00908
NM_030662.4(MAP2K2):c.303+18G>A rs116988721 0.00894
NM_002834.5(PTPN11):c.854-32A>C rs187389813 0.00867
NM_030973.4(MED25):c.1727C>G (p.Ala576Gly) rs193291405 0.00836
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230 0.00834
NM_007129.5(ZIC2):c.528C>T (p.Asn176=) rs143055297 0.00772
NM_006912.6(RIT1):c.375C>T (p.Asp125=) rs34831194 0.00759
NM_006939.4(SOS2):c.3075+7C>T rs144391749 0.00743
NM_030973.4(MED25):c.1482+19G>A rs4802632 0.00704
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_003482.4(KMT2D):c.7144C>T (p.Pro2382Ser) rs3741626 0.00649
NM_001378964.1(CDON):c.3559C>T (p.Arg1187Cys) rs150174788 0.00647
NM_139125.4(MASP1):c.1090+2877G>A rs113938200 0.00638
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384 0.00623
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502 0.00561
NM_001378964.1(CDON):c.3588C>T (p.Asp1196=) rs140895899 0.00553
NM_002834.5(PTPN11):c.757-69T>C rs150087259 0.00468
NM_030973.4(MED25):c.1794C>T (p.Ala598=) rs185100172 0.00456
NM_022455.5(NSD1):c.2169C>T (p.Thr723=) rs11948062 0.00453
NM_001371986.1(UNC80):c.92+7G>A rs200211384 0.00448
NM_001360.3(DHCR7):c.1008C>T (p.His336=) rs75225632 0.00447
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser) rs116520623 0.00445
NM_014822.4(SEC24D):c.2536A>G (p.Met846Val) rs34510328 0.00443
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_014822.4(SEC24D):c.2959-16G>T rs58916284 0.00425
NM_013275.6(ANKRD11):c.5338G>A (p.Ala1780Thr) rs75362060 0.00424
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
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_030973.4(MED25):c.93C>T (p.Tyr31=) rs61742955 0.00394
NM_006939.4(SOS2):c.1344G>A (p.Leu448=) rs35530861 0.00350
NM_007129.5(ZIC2):c.213G>A (p.Pro71=) rs189469383 0.00325
NM_003036.4(SKI):c.1410C>T (p.Pro470=) rs150985728 0.00322
NM_005633.4(SOS1):c.3081+26G>A rs186106971 0.00284
NM_001291415.2(KDM6A):c.1683+3G>A rs61751429 0.00283
NM_030662.4(MAP2K2):c.846C>T (p.Pro282=) rs11539506 0.00282
NM_003036.4(SKI):c.1527C>T (p.Ser509=) rs111935632 0.00270
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_030973.4(MED25):c.2088G>A (p.Leu696=) rs371157406 0.00252
NM_001360.3(DHCR7):c.399C>T (p.Ala133=) rs147424205 0.00248
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu) rs147106995 0.00240
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_024757.5(EHMT1):c.480C>T (p.Gly160=) rs150135875 0.00193
NM_001360.3(DHCR7):c.321+10C>T rs377108406 0.00189
NM_001347721.2(DYRK1A):c.1039A>G (p.Thr347Ala) rs145857775 0.00186
NM_030662.4(MAP2K2):c.580+6G>A rs201435249 0.00183
NM_001879.6(MASP1):c.1442-5C>G rs138989954 0.00178
NM_003036.4(SKI):c.1211+19C>T rs182600375 0.00178
NM_001879.6(MASP1):c.1528A>G (p.Ser510Gly) rs28945070 0.00176
NM_003036.4(SKI):c.2184G>C (p.Pro728=) rs543584871 0.00167
NM_030973.4(MED25):c.819+14C>T rs188257265 0.00166
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282 0.00152
NM_030973.4(MED25):c.1675-7C>T rs79635160 0.00123
NM_014822.4(SEC24D):c.2681C>T (p.Thr894Met) rs149063473 0.00116
NM_004715.5(CTDP1):c.1219T>C (p.Trp407Arg) rs149090172 0.00103
NM_006939.4(SOS2):c.858+9A>G rs201701595 0.00101
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=) rs148700620 0.00099
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284 0.00097
NM_006939.4(SOS2):c.213+18A>T rs143888968 0.00096
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563 0.00084
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048 0.00083
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578 0.00083
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met) rs141353229 0.00079
NM_003036.4(SKI):c.417C>T (p.Ile139=) rs144874401 0.00076
NM_003482.4(KMT2D):c.3737C>T (p.Thr1246Met) rs112921115 0.00076
NM_014822.4(SEC24D):c.2135A>C (p.Asn712Thr) rs146773641 0.00071
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718 0.00065
NM_030662.4(MAP2K2):c.1093-6T>C rs369681843 0.00065
NM_001378964.1(CDON):c.1263T>C (p.Phe421=) rs191544852 0.00056
NM_133459.4(CCBE1):c.265+8A>C rs181010692 0.00052
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_003036.4(SKI):c.1734C>T (p.Ser578=) rs117443908 0.00046
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549 0.00046
NM_030973.4(MED25):c.664C>T (p.Leu222=) rs147538736 0.00046
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076 0.00041
NM_003244.4(TGIF1):c.723G>A (p.Pro241=) rs114912664 0.00039
NM_030973.4(MED25):c.1231-8C>T rs200594031 0.00036
NM_007373.4(SHOC2):c.704-16G>T rs185614302 0.00033
NM_003036.4(SKI):c.948G>A (p.Lys316=) rs368128582 0.00032
NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro) rs370243498 0.00031
NM_133459.4(CCBE1):c.966G>A (p.Ala322=) rs144169027 0.00024
NM_003482.4(KMT2D):c.8382C>A (p.Gly2794=) rs368967997 0.00020
NM_006939.4(SOS2):c.2712A>G (p.Glu904=) rs143332839 0.00020
NM_001365999.1(SZT2):c.8031G>A (p.Ala2677=) rs138303356 0.00019
NM_003036.4(SKI):c.799C>T (p.Leu267=) rs140178396 0.00016
NM_003036.4(SKI):c.640A>G (p.Ser214Gly) rs139179843 0.00013
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_133459.4(CCBE1):c.843A>T (p.Pro281=) rs191592668 0.00013
NM_006939.4(SOS2):c.702G>A (p.Leu234=) rs200208472 0.00012
NM_030662.4(MAP2K2):c.581-8G>A rs369262004 0.00012
NM_001360.3(DHCR7):c.765C>T (p.Phe255=) rs200132007 0.00011
NM_003036.4(SKI):c.970-5C>T rs755318392 0.00011
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_003482.4(KMT2D):c.793C>T (p.Arg265Cys) rs766543419 0.00009
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser) rs561495878 0.00009
NM_002834.5(PTPN11):c.1599+33A>G rs727505380 0.00008
NM_003036.4(SKI):c.1109T>C (p.Val370Ala) rs138088528 0.00008
NM_030662.4(MAP2K2):c.258C>A (p.Val86=) rs148437150 0.00008
NM_002834.5(PTPN11):c.137+35G>A rs727505387 0.00006
NM_003036.4(SKI):c.360C>T (p.Arg120=) rs375024753 0.00006
NM_004204.5(PIGQ):c.91G>A (p.Val31Met) rs148273392 0.00006
NM_030662.4(MAP2K2):c.890G>A (p.Arg297Gln) rs140111079 0.00006
NM_003036.4(SKI):c.994A>G (p.Ile332Val) rs374264201 0.00005
NM_030662.4(MAP2K2):c.690G>A (p.Thr230=) rs201287884 0.00005
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001365999.1(SZT2):c.1272A>G (p.Gln424=) rs780157180 0.00004
NM_003036.4(SKI):c.726C>T (p.Ala242=) rs139227600 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_032043.3(BRIP1):c.1626C>T (p.Ser542=) rs373709958 0.00004
NM_133433.4(NIPBL):c.5051C>A (p.Thr1684Lys) rs774109272 0.00004
NM_176787.5(PIGN):c.896A>G (p.Gln299Arg) rs576797024 0.00004
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_003036.4(SKI):c.1272G>A (p.Pro424=) rs552946737 0.00003
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe) rs536611911 0.00003
NM_139125.4(MASP1):c.1530A>C (p.Pro510=) rs200791230 0.00003
NM_001291415.2(KDM6A):c.4255G>A (p.Gly1419Arg) rs370298215 0.00002
NM_003036.4(SKI):c.625C>A (p.Leu209Met) rs771298442 0.00002
NM_003482.4(KMT2D):c.4865G>C (p.Gly1622Ala) rs377457393 0.00002
NM_005633.4(SOS1):c.396A>T (p.Ala132=) rs727505385 0.00002
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser) rs139401491 0.00002
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala) rs730881018 0.00002
NM_001360.3(DHCR7):c.1221C>A (p.Asn407Lys) rs1481450955 0.00001
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu) rs80338855 0.00001
NM_001360.3(DHCR7):c.823G>A (p.Val275Ile) rs775628929 0.00001
NM_001360.3(DHCR7):c.98+20T>A rs1017429578 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.1599+26G>A rs727505390 0.00001
NM_002834.5(PTPN11):c.1620C>T (p.His540=) rs587781132 0.00001
NM_003036.4(SKI):c.1152C>T (p.Pro384=) rs200160702 0.00001
NM_003036.4(SKI):c.1317C>T (p.Val439=) rs1446526482 0.00001
NM_003482.4(KMT2D):c.10410G>T (p.Leu3470=) rs747438612 0.00001
NM_003482.4(KMT2D):c.6235-32C>A rs371302554 0.00001
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817 0.00001
NM_005633.4(SOS1):c.3290G>C (p.Ser1097Thr) rs727505379 0.00001
NM_005633.4(SOS1):c.3347-20T>G rs727505382 0.00001
NM_006015.6(ARID1A):c.437C>T (p.Pro146Leu) rs781072025 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_014423.4(AFF4):c.2578T>G (p.Ser860Ala) rs752814432 0.00001
NM_015443.4(KANSL1):c.542G>A (p.Arg181Gln) rs771481251 0.00001
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr) rs757240576 0.00001
NM_030973.4(MED25):c.1230+7G>T rs1412475364 0.00001
NM_030973.4(MED25):c.1899C>T (p.Pro633=) rs1225715903 0.00001
NM_032043.3(BRIP1):c.1754C>A (p.Ala585Glu) rs756946068 0.00001
NM_032043.3(BRIP1):c.1873T>C (p.Ser625Pro) rs935011040 0.00001
NM_138927.4(SON):c.4451T>C (p.Met1484Thr) rs768725387 0.00001
NM_001080517.3(SETD5):c.3197T>G (p.Val1066Gly)
NM_001080517.3(SETD5):c.3953C>G (p.Pro1318Arg) rs2045789807
NM_001163435.3(TBCK):c.110A>T (p.Lys37Ile) rs755840392
NM_001163435.3(TBCK):c.1322G>A (p.Arg441Lys) rs1579346494
NM_001291415.2(KDM6A):c.1874C>T (p.Ser625Phe) rs765545282
NM_001360.3(DHCR7):c.1066del (p.His356fs) rs774291653
NM_001360.3(DHCR7):c.606C>T (p.Phe202=) rs1591111340
NM_001360.3(DHCR7):c.662T>G (p.Met221Arg) rs943223142
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001365999.1(SZT2):c.956C>G (p.Ala319Gly)
NM_001374828.1(ARID1B):c.1940del (p.Gly647fs)
NM_002834.3:c.1-140delG
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1277A>C (p.His426Pro) rs727505389
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.15-38C>T rs727505378
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002834.5(PTPN11):c.933+25T>C rs727505386
NM_003036.4(SKI):c.1096A>C (p.Ser366Arg) rs1269741981
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1474+8_1474+9del
NM_003036.4(SKI):c.1887G>A (p.Glu629=) rs771953750
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly) rs555623960
NM_003036.4(SKI):c.969+10C>T
NM_003482.4(KMT2D):c.12038G>A (p.Gly4013Glu) rs1592118836
NM_003482.4(KMT2D):c.12793G>A (p.Gly4265Ser)
NM_003482.4(KMT2D):c.16412+16del rs34546217
NM_003482.4(KMT2D):c.2798-7del rs112620957
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_003922.4(HERC1):c.12394C>T (p.Gln4132Ter)
NM_004153.4(ORC1):c.521C>T (p.Ala174Val)
NM_004187.5(KDM5C):c.2517-15T>A
NM_004247.4(EFTUD2):c.1832A>G (p.Asn611Ser)
NM_005445.4(SMC3):c.2024G>A (p.Arg675Gln) rs2134745310
NM_005633.3:c.213+15C>G
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.2104T>C (p.Tyr702His) rs727505381
NM_005633.4(SOS1):c.2511-13_2511-9del rs727503436
NM_005633.4(SOS1):c.2964+32T>G rs727505384
NM_005633.4(SOS1):c.3433G>A (p.Asp1145Asn) rs727505383
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg) rs869320691
NM_006565.4(CTCF):c.1365C>G (p.His455Gln) rs1597725291
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006939.4(SOS2):c.1125T>C (p.Ile375=) rs1885009611
NM_006939.4(SOS2):c.2057+19_2057+20del rs111970905
NM_006939.4(SOS2):c.346-5C>T
NM_006939.4(SOS2):c.3490-13_3490-12dup rs10658395
NM_006939.4(SOS2):c.3490-4del rs10658395
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) rs61755579
NM_006939.4(SOS2):c.775G>A (p.Gly259Ser)
NM_007129.5(ZIC2):c.1317del (p.Leu440fs) rs1594292057
NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup) rs398124241
NM_007373.4(SHOC2):c.1541-7del rs371544139
NM_013275.6(ANKRD11):c.3927G>A (p.Thr1309=) rs143428884
NM_013275.6(ANKRD11):c.4250A>C (p.Asp1417Ala)
NM_014233.4(UBTF):c.403C>T (p.Pro135Ser) rs2144550110
NM_014795.4(ZEB2):c.150C>A (p.Asp50Glu)
NM_014822.4(SEC24D):c.2093-14T>C
NM_015335.5(MED13L):c.338G>T (p.Gly113Val)
NM_015335.5(MED13L):c.829C>G (p.Arg277Gly)
NM_016023.5(OTUD6B):c.550G>A (p.Ala184Thr) rs771021419
NM_016628.5(WAC):c.1470_1477del (p.Gln492fs) rs1589247025
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_030662.4(MAP2K2):c.335G>T (p.Arg112Leu) rs2041142587
NM_030662.4(MAP2K2):c.650G>C (p.Gly217Ala)
NM_030662.4(MAP2K2):c.705+11G>C rs202086678
NM_030662.4(MAP2K2):c.712C>T (p.Arg238Trp)
NM_030662.4(MAP2K2):c.985-19C>A rs987549297
NM_030973.3(MED25):c.1482+1G>A rs1568624159
NM_030973.4(MED25):c.1101+24_1101+42dup rs564179307
NM_030973.4(MED25):c.1855C>A (p.Gln619Lys) rs769034498
NM_030973.4(MED25):c.597C>A (p.Ala199=) rs149788020
NM_030973.4(MED25):c.930A>T (p.Gln310His) rs2074049426
NM_032043.3(BRIP1):c.1331G>C (p.Ser444Thr) rs1603342140
NM_176787.5(PIGN):c.1117-1= rs9959632
NM_176787.5(PIGN):c.49G>A (p.Ala17Thr)

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