ClinVar Miner

List of variants reported as pathogenic for congenital limb malformation by Baylor Genetics

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 387
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_005199.5(CHRNG):c.459dup (p.Val154fs) rs774279192 0.00048
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter) rs121908171 0.00037
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_001018115.3(FANCD2):c.2715+1G>A rs201811817 0.00016
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289 0.00013
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952 0.00012
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter) rs121917783 0.00011
NM_004826.4(ECEL1):c.1470G>A (p.Trp490Ter) rs149459910 0.00011
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs) rs747067203 0.00011
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197 0.00009
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter) rs148100796 0.00006
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter) rs1458048713 0.00006
NM_001164508.2(NEB):c.3255+1G>A rs375628303 0.00006
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_000135.4(FANCA):c.1827-1G>A rs555449842 0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_001018115.3(FANCD2):c.990-1G>A rs112832879 0.00005
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter) rs769248873 0.00005
NM_000135.4(FANCA):c.3349-1G>A rs769862233 0.00004
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309 0.00004
NM_000136.3(FANCC):c.521+1G>A rs145394391 0.00004
NM_001018115.3(FANCD2):c.2444G>A (p.Arg815Gln) rs766567785 0.00004
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp) rs533233215 0.00004
NM_001164508.2(NEB):c.21417+3A>G rs148950085 0.00004
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter) rs200731870 0.00004
NM_005199.5(CHRNG):c.397del (p.Ser133fs) rs780249576 0.00004
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp) rs775076977 0.00004
NM_000135.4(FANCA):c.3828+1G>C rs1432988639 0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 0.00003
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs) rs1491132258 0.00003
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter) rs749452641 0.00003
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284 0.00003
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter) rs754272530 0.00003
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu) rs770987150 0.00003
NM_000135.4(FANCA):c.190-2A>T rs183350210 0.00002
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000136.3(FANCC):c.1302dup (p.Gly435fs) rs730881709 0.00002
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter) rs781542763 0.00002
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947 0.00002
NM_000136.3(FANCC):c.843+1G>A rs587779909 0.00002
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter) rs771869385 0.00002
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter) rs745930696 0.00002
NM_001164508.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219 0.00002
NM_001164508.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977 0.00002
NM_004629.2(FANCG):c.1077-2A>G rs769547477 0.00002
NM_004629.2(FANCG):c.1144-1G>T rs755363896 0.00002
NM_004629.2(FANCG):c.118C>T (p.Gln40Ter) rs776122485 0.00002
NM_004629.2(FANCG):c.1480+1G>C rs149616199 0.00002
NM_004629.2(FANCG):c.1642C>T (p.Arg548Ter) rs779834525 0.00002
NM_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_018062.4(FANCL):c.1092G>A (p.Lys364=) rs577063114 0.00002
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs) rs587776416 0.00002
NM_058216.3(RAD51C):c.706-2A>G rs587780259 0.00002
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter) rs772858764 0.00001
NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter) rs755018069 0.00001
NM_000135.4(FANCA):c.1144C>T (p.Gln382Ter) rs769718381 0.00001
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter) rs1280130060 0.00001
NM_000135.4(FANCA):c.1226-2A>G rs773906241 0.00001
NM_000135.4(FANCA):c.1776+1G>A rs756140957 0.00001
NM_000135.4(FANCA):c.190-1G>C rs765277254 0.00001
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter) rs1448463647 0.00001
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro) rs1173704265 0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950 0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099 0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro) rs1302083447 0.00001
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter) rs745568821 0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs) rs1374769712 0.00001
NM_000135.4(FANCA):c.3813dup (p.His1272fs) rs1555534521 0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe) rs753700179 0.00001
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu) rs182657062 0.00001
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs) rs747892390 0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980 0.00001
NM_000135.4(FANCA):c.597-1G>C rs147945881 0.00001
NM_000135.4(FANCA):c.709+5G>A rs759877008 0.00001
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter) rs372163487 0.00001
NM_000135.4(FANCA):c.894-2A>G rs976556567 0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs) rs746236214 0.00001
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter) rs1410356625 0.00001
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291 0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784 0.00001
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter) rs769039987 0.00001
NM_000136.3(FANCC):c.844-1G>C rs774209201 0.00001
NM_000136.3(FANCC):c.996+1G>T rs370510954 0.00001
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs) rs763733996 0.00001
NM_001018115.3(FANCD2):c.3888+2T>G rs1419879344 0.00001
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter) rs374328858 0.00001
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp) rs121917787 0.00001
NM_001113378.2(FANCI):c.1840C>T (p.Arg614Ter) rs551399966 0.00001
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter) rs748000458 0.00001
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter) rs928945364 0.00001
NM_001164508.2(NEB):c.1152+1G>A rs398124167 0.00001
NM_001164508.2(NEB):c.18891+1G>A rs1443738549 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter) rs750900690 0.00001
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter) rs748922882 0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter) rs760935667 0.00001
NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs) rs762133567 0.00001
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs) rs555445835 0.00001
NM_001164508.2(NEB):c.2784del (p.Asp929fs) rs786204430 0.00001
NM_001164508.2(NEB):c.294+2T>C rs773952935 0.00001
NM_001164508.2(NEB):c.2943+1G>A rs113091511 0.00001
NM_001164508.2(NEB):c.3879+1G>A rs746999970 0.00001
NM_001164508.2(NEB):c.7228-1G>A rs1057516996 0.00001
NM_001164508.2(NEB):c.78+1G>A rs778593702 0.00001
NM_001164508.2(NEB):c.928-1G>A rs1162553327 0.00001
NM_001271938.2(MEGF8):c.1788+1G>C rs1206116606 0.00001
NM_004629.2(FANCG):c.175+1G>A rs927868500 0.00001
NM_004629.2(FANCG):c.313G>T (p.Glu105Ter) rs121434425 0.00001
NM_004629.2(FANCG):c.652C>T (p.Gln218Ter) rs1209807088 0.00001
NM_004629.2(FANCG):c.787C>T (p.Gln263Ter) rs149721361 0.00001
NM_004629.2(FANCG):c.85-2A>T rs759590778 0.00001
NM_005055.5(RAPSN):c.484G>A (p.Glu162Lys) rs121909255 0.00001
NM_005055.5(RAPSN):c.737C>T (p.Ala246Val) rs559933584 0.00001
NM_018486.3(HDAC8):c.932C>T (p.Thr311Met) rs397515417 0.00001
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter) rs121434505 0.00001
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter) rs760126773 0.00001
NM_173660.5(DOK7):c.331+1G>T rs1349476281 0.00001
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg) rs758131044 0.00001
NM_173660.5(DOK7):c.514G>A (p.Gly172Arg) rs768892432 0.00001
NM_173660.5(DOK7):c.596del (p.Ile199fs) rs797045528 0.00001
GRCh37/hg19 12q24.21(chr12:114791609-114793234)
GRCh37/hg19 17p13.3(chr17:1084016-1278527)
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620)
GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080)
GRCh37/hg19 2q37.3(chr2:239071623-243048760)
NM_000135.4(FANCA):c.1007-2A>G rs2040110878
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs) rs878853660
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1159C>T (p.Gln387Ter)
NM_000135.4(FANCA):c.1304G>A (p.Arg435His) rs1060501879
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg) rs2040074214
NM_000135.4(FANCA):c.1359+1G>C rs1555561294
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter) rs1438828232
NM_000135.4(FANCA):c.1470+2T>C rs2039844134
NM_000135.4(FANCA):c.1471-1G>T rs2039777078
NM_000135.4(FANCA):c.15G>A (p.Trp5Ter)
NM_000135.4(FANCA):c.1615del (p.Asp539fs) rs778507965
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter) rs753980264
NM_000135.4(FANCA):c.182_184delinsGG (p.Leu61fs)
NM_000135.4(FANCA):c.2005C>T (p.Gln669Ter) rs2039386741
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del) rs1567618907
NM_000135.4(FANCA):c.2172dup (p.Ser725fs) rs1555547955
NM_000135.4(FANCA):c.2222+1G>T rs775388912
NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp) rs751572448
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter) rs761725308
NM_000135.4(FANCA):c.238del (p.Cys80fs) rs864622187
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2529C>G (p.Tyr843Ter) rs1247378731
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs) rs763378933
NM_000135.4(FANCA):c.2546del (p.Ser849fs) rs1060501876
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter) rs1452688134
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter) rs2039078843
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter) rs1060501880
NM_000135.4(FANCA):c.2778+2T>C rs1458001028
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer) rs1283284704
NM_000135.4(FANCA):c.283+2T>C
NM_000135.4(FANCA):c.2839dup (p.Ser947fs) rs756367276
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp) rs755546887
NM_000135.4(FANCA):c.2853-15_2856del rs1285346388
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter) rs927630499
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter) rs1166286386
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter) rs776391208
NM_000135.4(FANCA):c.3239+1dup rs766989857
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln) rs1555538571
NM_000135.4(FANCA):c.3286C>T (p.Gln1096Ter) rs775799529
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser) rs545772434
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del) rs1555536446
NM_000135.4(FANCA):c.3518G>A (p.Trp1173Ter)
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs) rs747851434
NM_000135.4(FANCA):c.3627-1G>A rs2062172440
NM_000135.4(FANCA):c.3627-3_3627-2del rs2062172458
NM_000135.4(FANCA):c.367C>T (p.Gln123Ter)
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs) rs794726660
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs) rs868273545
NM_000135.4(FANCA):c.3781_3785del (p.Phe1261fs)
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del) rs1183256870
NM_000135.4(FANCA):c.3828+1G>T rs1432988639
NM_000135.4(FANCA):c.3915_3916del (p.Phe1306fs) rs748453841
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs) rs1281446470
NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer) rs1403231932
NM_000135.4(FANCA):c.3934+2T>C rs771775516
NM_000135.4(FANCA):c.3973del (p.Asp1325fs) rs2151712879
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000135.4(FANCA):c.4017_4021del (p.Ser1340fs) rs773113065
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs) rs776969626
NM_000135.4(FANCA):c.4168-2A>G rs1220672299
NM_000135.4(FANCA):c.416_417del (p.Val139fs) rs864622188
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter) rs2040853392
NM_000135.4(FANCA):c.426+1G>A rs1343463467
NM_000135.4(FANCA):c.4261-2A>C rs915983602
NM_000135.4(FANCA):c.4261-2A>G rs915983602
NM_000135.4(FANCA):c.4268_*37del (p.Ala1423_Ter1456delinsXaa) rs2062027006
NM_000135.4(FANCA):c.4275del (p.Asp1427fs) rs1598048941
NM_000135.4(FANCA):c.50del (p.Gly17fs) rs748624754
NM_000135.4(FANCA):c.627G>A (p.Trp209Ter)
NM_000135.4(FANCA):c.709+1G>A rs753211631
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter) rs1184639006
NM_000135.4(FANCA):c.792+1G>C
NM_000135.4(FANCA):c.827-1G>T rs753728435
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter) rs2041102320
NM_000135.4(FANCA):c.891_893+1del rs2040352874
NM_000135.4(FANCA):c.916_917del (p.Thr306fs) rs764122657
NM_000135.4(FANCA):c.97del (p.Glu33fs) rs786204238
NM_000135.4(FANCA):c.987_990del (p.His330fs) rs772359099
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter) rs759900071
NM_000136.3(FANCC):c.1154+1del
NM_000136.3(FANCC):c.1257del (p.Thr420fs) rs765551897
NM_000136.3(FANCC):c.1377_1378del (p.Ser459fs) rs2134456127
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.357_358del (p.His120fs) rs1588220764
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter) rs374176091
NM_000136.3(FANCC):c.67del (p.Asp23fs) rs104886459
NM_000136.3(FANCC):c.729G>A (p.Trp243Ter) rs1588134571
NM_000136.3(FANCC):c.8_9del (p.Gln3fs) rs1831183107
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys) rs121918499
NM_001018115.3(FANCD2):c.2661del (p.Glu888fs) rs762544228
NM_001018115.3(FANCD2):c.3294del (p.Lys1099fs)
NM_001018115.3(FANCD2):c.3453_3456del (p.Asn1151fs) rs1559403654
NM_001018115.3(FANCD2):c.3803G>A (p.Trp1268Ter) rs757499508
NM_001113378.2(FANCI):c.158-2A>G rs762128147
NM_001113378.2(FANCI):c.2957_2969del (p.Val986fs)
NM_001113378.2(FANCI):c.3184C>T (p.Gln1062Ter)
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs) rs758597713
NM_001113378.2(FANCI):c.3801_3804del (p.Ser1268fs) rs2152017390
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter) rs551305056
NM_001113525.2(ZNF276):c.*474_*481del rs1567591276
NM_001164508.2(NEB):c.11289+1G>A
NM_001164508.2(NEB):c.1152+1G>T rs398124167
NM_001164508.2(NEB):c.1161C>G (p.Tyr387Ter) rs1259297878
NM_001164508.2(NEB):c.12639+1G>A rs2097758221
NM_001164508.2(NEB):c.12996G>A (p.Trp4332Ter) rs2153939368
NM_001164508.2(NEB):c.13147C>T (p.Gln4383Ter) rs1212374733
NM_001164508.2(NEB):c.1569+1G>A rs1553605553
NM_001164508.2(NEB):c.17457G>A (p.Trp5819Ter)
NM_001164508.2(NEB):c.1802_1803del (p.Asp600_Tyr601insTer) rs1553601066
NM_001164508.2(NEB):c.18211del (p.Asp6071fs) rs997878946
NM_001164508.2(NEB):c.18808C>T (p.Arg6270Ter) rs754369875
NM_001164508.2(NEB):c.19653G>A (p.Trp6551Ter) rs2153657682
NM_001164508.2(NEB):c.20158-6A>G rs1553715636
NM_001164508.2(NEB):c.20253del (p.Val6752fs)
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter) rs1575714905
NM_001164508.2(NEB):c.23805_23806del (p.Arg7935fs) rs753192734
NM_001164508.2(NEB):c.23878_23881dup (p.Thr7961fs)
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) rs1553555882
NM_001164508.2(NEB):c.24267_24270del (p.Arg8090fs) rs747564597
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs) rs1344099907
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs) rs934111355
NM_001164508.2(NEB):c.24368_24371dup (p.His8124fs) rs1553548207
NM_001164508.2(NEB):c.24370_24374dup (p.Gln8126fs)
NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs) rs755863625
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.24579G>C (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs) rs776059611
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter) rs767709270
NM_001164508.2(NEB):c.25129C>T (p.Arg8377Ter) rs777232352
NM_001164508.2(NEB):c.25181C>A (p.Ser8394Ter) rs2055484249
NM_001164508.2(NEB):c.2836-2A>G rs1208297049
NM_001164508.2(NEB):c.3252_3255+3del rs1559168230
NM_001164508.2(NEB):c.3255+1G>C rs375628303
NM_001164508.2(NEB):c.3987+1G>A rs780022652
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001164508.2(NEB):c.6496-1G>A
NM_001164508.2(NEB):c.739del (p.Ala247fs) rs2150350376
NM_001164508.2(NEB):c.7523_7526del (p.Ile2508fs) rs878854368
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172
NM_001164508.2(NEB):c.8425C>T (p.Arg2809Ter) rs762881892
NM_001164508.2(NEB):c.8890-2A>G
NM_001164508.2(NEB):c.9775C>T (p.Arg3259Ter) rs1301228529
NM_001198800.3(ASCC1):c.784C>T (p.Gln262Ter) rs778054296
NM_001374353.1(GLI2):c.2454del (p.Ser819fs)
NM_001374353.1(GLI2):c.2509_2510del (p.Ser837fs)
NM_001378183.1(PIEZO2):c.6614del (p.Thr2205fs) rs2035219369
NM_001378183.1(PIEZO2):c.7807G>T (p.Glu2603Ter) rs2034210482
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His) rs587777450
NM_001429.4(EP300):c.104_107del (p.Ser35fs) rs886037664
NM_001429.4(EP300):c.2225del (p.Pro742fs) rs2059021664
NM_001429.4(EP300):c.4933C>T (p.Arg1645Ter) rs139310551
NM_001999.4(FBN2):c.827-2A>G rs1561461125
NM_002470.4(MYH3):c.2015G>A (p.Arg672His) rs121913617
NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter) rs104894312
NM_003282.4(TNNI2):c.521G>A (p.Arg174Gln) rs104894311
NM_003632.3(CNTNAP1):c.2015G>A (p.Trp672Ter) rs1567973091
NM_003632.3(CNTNAP1):c.3657_3660dup (p.Leu1221fs) rs2053168326
NM_004247.4(EFTUD2):c.1331del (p.Gly444fs) rs2050697632
NM_004247.4(EFTUD2):c.1732C>T (p.Arg578Ter) rs1057520673
NM_004247.4(EFTUD2):c.2562-2del rs2145431661
NM_004247.4(EFTUD2):c.2698_2701del (p.Val900fs) rs886039349
NM_004247.4(EFTUD2):c.378del (p.Glu127fs) rs2051113996
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.47_48delinsT (p.Lys16fs) rs2055490250
NM_004380.3(CREBBP):c.5638C>T (p.Gln1880Ter)
NM_004629.1(FANCG):c.1795_1804del (p.Trp599Profs) rs397507560
NM_004629.2(FANCG):c.1066C>T (p.Gln356Ter) rs121434426
NM_004629.2(FANCG):c.1158del (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.1158dup (p.Ser387fs) rs757418016
NM_004629.2(FANCG):c.1182_1192delinsC (p.Glu395fs) rs397507559
NM_004629.2(FANCG):c.1309_1310dup (p.Asp437fs) rs2131053943
NM_004629.2(FANCG):c.1471_1473delinsG (p.Lys491fs)
NM_004629.2(FANCG):c.1474G>T (p.Glu492Ter)
NM_004629.2(FANCG):c.156dup (p.Leu53fs) rs863224506
NM_004629.2(FANCG):c.1593del (p.Ala533fs) rs761519737
NM_004629.2(FANCG):c.1652dup (p.Tyr551Ter) rs2131051951
NM_004629.2(FANCG):c.307+1G>C rs200479612
NM_004629.2(FANCG):c.336del (p.Arg113fs) rs2131058595
NM_004629.2(FANCG):c.572T>G (p.Leu191Ter) rs755361015
NM_004629.2(FANCG):c.637_643del (p.Tyr213fs) rs587776640
NM_004629.2(FANCG):c.646+1G>T rs1028569753
NM_004991.4(MECOM):c.2812C>T (p.Arg938Trp) rs864309724
NM_005055.4(RAPSN):c.-199C>G rs886037842
NM_005055.5(RAPSN):c.1029_1045del (p.Glu344fs) rs765096923
NM_005055.5(RAPSN):c.1116GAA[1] (p.Lys373del) rs759488854
NM_005055.5(RAPSN):c.192+2T>G
NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter) rs1479498379
NM_005055.5(RAPSN):c.46dup (p.Leu16fs) rs2153311780
NM_005055.5(RAPSN):c.690+1G>A
NM_005055.5(RAPSN):c.712C>T (p.Gln238Ter) rs2076368388
NM_005055.5(RAPSN):c.966+1_966+2delinsAG rs2153308170
NM_005055.5(RAPSN):c.990_993del (p.His329_Cys330insTer)
NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter) rs201947904
NM_006265.3(RAD21):c.1161+1G>A rs1563689416
NM_006265.3(RAD21):c.1550dup (p.Glu518fs) rs1563687901
NM_006265.3(RAD21):c.85delinsCCT (p.Lys29fs) rs1812700165
NM_006306.4(SMC1A):c.1114-2A>G rs1569358628
NM_006306.4(SMC1A):c.116C>G (p.Ser39Ter) rs1057518670
NM_006306.4(SMC1A):c.1487G>A (p.Arg496His) rs122454123
NM_006306.4(SMC1A):c.157dup (p.Thr53fs) rs2075726992
NM_006306.4(SMC1A):c.2394dup (p.Arg799fs) rs1569356555
NM_006306.4(SMC1A):c.2547del (p.Ile849fs) rs797045069
NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs) rs863225458
NM_006306.4(SMC1A):c.655del (p.Ala219fs) rs1569359048
NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del) rs727503773
NM_006757.4(TNNT3):c.723-2A>G rs1855785074
NM_007294.4(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_017617.5(NOTCH1):c.3684del (p.Val1229fs)
NM_018062.4(FANCL):c.217-2A>G
NM_018062.4(FANCL):c.430del (p.Ser144fs) rs869320685
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met) rs587779380
NM_018486.3(HDAC8):c.490C>T (p.Arg164Ter) rs397515415
NM_018486.3(HDAC8):c.937C>T (p.Arg313Ter) rs1569316085
NM_018684.4(ZC4H2):c.388del (p.Leu130fs)
NM_018684.4(ZC4H2):c.593G>A (p.Arg198Gln) rs879255235
NM_021922.3(FANCE):c.1222C>T (p.Gln408Ter)
NM_021922.3(FANCE):c.248+1G>A rs1480350743
NM_021922.3(FANCE):c.334del (p.Ser112fs) rs1479445348
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter) rs121434506
NM_022725.4(FANCF):c.219del (p.Arg74fs) rs1858634363
NM_022725.4(FANCF):c.230_252del (p.Val77fs) rs730880277
NM_022725.4(FANCF):c.24_25insA (p.Asp9fs) rs2133798885
NM_022725.4(FANCF):c.351_397del (p.Gly120fs) rs730880278
NM_022725.4(FANCF):c.438_451del (p.Leu146_Arg147insTer) rs778546226
NM_022725.4(FANCF):c.484_485del (p.Leu162fs) rs587778340
NM_022725.4(FANCF):c.496C>T (p.Gln166Ter) rs766279442
NM_022725.4(FANCF):c.604del (p.Phe201_Leu202insTer) rs1479457172
NM_032634.4(PIGO):c.1810dup (p.Arg604fs) rs774508288
NM_032634.4(PIGO):c.2191dup (p.Arg731fs) rs760848629
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr) rs759541820
NM_133433.4(NIPBL):c.1435C>T (p.Arg479Ter) rs1554015303
NM_133433.4(NIPBL):c.2093del (p.Lys697_Ser698insTer)
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs) rs398124465
NM_133433.4(NIPBL):c.459-2A>G rs1561083229
NM_133433.4(NIPBL):c.7439_7440del (p.Arg2480fs) rs587784043
NM_173660.5(DOK7):c.1001_1011dup (p.Ser338fs)
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.1138del (p.Ala380fs)
NM_173660.5(DOK7):c.1138dup (p.Ala380fs) rs761899995
NM_173660.5(DOK7):c.1143del (p.Glu382fs) rs606231132
NM_173660.5(DOK7):c.1143dup (p.Glu382fs) rs606231132
NM_173660.5(DOK7):c.1263del (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1263dup (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1296_1311del (p.Asp433fs) rs778172294
NM_173660.5(DOK7):c.1339_1342dup (p.Gly448fs) rs606231131
NM_173660.5(DOK7):c.1378del (p.Gln460fs)
NM_173660.5(DOK7):c.1378dup (p.Gln460fs) rs606231133
NM_173660.5(DOK7):c.480C>A (p.Tyr160Ter) rs550024569
NM_181486.4(TBX5):c.337A>T (p.Arg113Ter) rs1871662633
NM_181486.4(TBX5):c.362+1G>A rs1871659583
NM_181486.4(TBX5):c.408C>A (p.Tyr136Ter) rs104894379

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