ClinVar Miner

Variants with conflicting interpretations between Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and GeneDx

Minimum review status of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
0 747 0 404 116 1 25 546

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 0 12 3 0 1 0
likely pathogenic 15 0 3 0 0 0
uncertain significance 6 11 0 80 8 1
likely benign 1 0 26 0 341 0
benign 0 0 2 36 0 0

All variants with conflicting interpretations #

Total variants: 546
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.734C>T (p.Ser245Leu) rs121434281
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) rs771121666
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923
NM_000048.4(ASL):c.556C>A (p.Arg186=) rs111407265
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.6995T>C (p.Leu2332Pro) rs4988111
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) rs121907999
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559
NM_000070.3(CAPN3):c.1029+3A>G rs28364442
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000086.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.2607T>A (p.Pro869=) rs376643618
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile) rs267607134
NM_000130.4(F5):c.1601= (p.Arg534=) rs6025
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000142.4(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656
NM_000142.4(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572
NM_000162.5(GCK):c.31G>A (p.Ala11Thr) rs116093166
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902
NM_000168.6(GLI3):c.444C>T (p.Tyr148=) rs142241970
NM_000215.3(JAK3):c.452C>G (p.Pro151Arg) rs55778349
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910
NM_000266.4(NDP):c.385G>A (p.Glu129Lys) rs756474198
NM_000267.3(NF1):c.5172G>A (p.Lys1724=) rs17887014
NM_000267.3(NF1):c.846G>A (p.Gln282=) rs138840528
NM_000282.4(PCCA):c.231+15C>T rs202049874
NM_000283.3(PDE6B):c.145G>T (p.Asp49Tyr) rs79826315
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263
NM_000304.4(PMP22):c.245T>C (p.Leu82Pro) rs878853113
NM_000310.3(PPT1):c.627+4A>G rs572153728
NM_000310.3(PPT1):c.727-2A>T rs386833664
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952
NM_000335.4(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000356.4(TCOF1):c.122C>T (p.Ala41Val) rs56180593
NM_000356.4(TCOF1):c.640-1981_640-1964del rs528897827
NM_000359.3(TGM1):c.872G>A (p.Gly291Asp) rs780990272
NM_000364.4(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_000368.4(TSC1):c.1589G>C (p.Ser530Thr) rs368481360
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu) rs1042023
NM_000387.6(SLC25A20):c.773G>A (p.Arg258Gln) rs35989076
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000426.3(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866
NM_000426.3(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000426.3(LAMA2):c.4437-5T>A rs41285288
NM_000426.3(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053
NM_000426.3(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843
NM_000426.3(LAMA2):c.922G>A (p.Glu308Lys) rs146462599
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457
NM_000441.2(SLC26A4):c.416-16G>T rs114992866
NM_000445.5(PLEC):c.10042G>A (p.Gly3348Arg) rs34132016
NM_000445.5(PLEC):c.5557C>T (p.Arg1853Trp) rs200575795
NM_000445.5(PLEC):c.8093G>A (p.Arg2698Gln) rs28526657
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000540.2(RYR1):c.4088C>T (p.Ala1363Val) rs774603798
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met) rs35785620
NM_000548.5(TSC2):c.1839+6G>A rs45517204
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.5(TSC2):c.2545+26G>A rs45517242
NM_000548.5(TSC2):c.3397+15C>T rs202246408
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs) rs796053505
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.5(TSC2):c.4569+12C>T rs45517350
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000551.3(VHL):c.340+5G>C rs61758376
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000744.6(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415
NM_000751.3(CHRND):c.243C>T (p.His81=) rs115841867
NM_000814.6(GABRB3):c.682+20A>G rs75015217
NM_000834.4(GRIN2B):c.3993G>A (p.Met1331Ile) rs200035225
NM_000920.3(PC):c.1185+5_1185+8delGCGG rs748620956
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346
NM_001005336.3(DNM1):c.1894-18G>T rs116335289
NM_001005336.3(DNM1):c.1905+17C>T rs115623280
NM_001005360.2(DNM2):c.235+6A>G rs113192269
NM_001005360.2(DNM2):c.236-8C>G rs143084059
NM_001031737.3(CCDC78):c.492+1G>A rs138669350
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met) rs141202530
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp) rs149447502
NM_001042537.1(SLC9A6):c.1703G>A (p.Arg568Gln) rs146263125
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly) rs140448154
NM_001059.3(TACR3):c.857A>G (p.Lys286Arg) rs2276973
NM_001077691.2(ALG9):c.251C>T (p.Ser84Leu) rs17113312
NM_001079846.1(CREBBP):c.2564C>T (p.Ser855Leu) rs142047649
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566
NM_001080116.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338
NM_001080522.2(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937
NM_001080522.2(CC2D2A):c.2813T>C (p.Met938Thr) rs61740537
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509
NM_001082538.3(TCTN1):c.220+12G>C rs76843552
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132
NM_001083602.2(PTCH1):c.1791G>C (p.Gln597His) rs753002023
NM_001083602.2(PTCH1):c.3385A>T (p.Thr1129Ser) rs2236405
NM_001083602.2(PTCH1):c.4-1650G>T rs143494325
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499
NM_001085372.3(UQCC3):c.226T>G (p.Trp76Gly) rs143509965
NM_001101.5(ACTB):c.363+16C>T rs73332405
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu) rs782168634
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309
NM_001110556.2(FLNA):c.6023-10C>G rs72616474
NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly) rs782598729
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_001127221.1(CACNA1A):c.1360G>A (p.Ala454Thr) rs41276886
NM_001127221.1(CACNA1A):c.1785G>A (p.Lys595=) rs756972061
NM_001127221.1(CACNA1A):c.2690C>G (p.Pro897Arg) rs121908242
NM_001127221.1(CACNA1A):c.2740C>T (p.Pro914Ser) rs16020
NM_001127221.1(CACNA1A):c.3043G>A (p.Glu1015Lys) rs16024
NM_001127221.1(CACNA1A):c.6633_6635CCA[8] (p.His2220del) rs759331923
NM_001128209.2(SGCD):c.696+13_696+15del rs397517924
NM_001128227.3(GNE):c.-10G>A rs73449614
NM_001128425.1(MUTYH):c.312C>T (p.Tyr104=) rs121908380
NM_001128849.2(SMARCA4):c.1419+9C>T rs374635008
NM_001128849.2(SMARCA4):c.4731+12G>A rs34930626
NM_001130144.2(LTBP3):c.1550C>T (p.Pro517Leu) rs145001056
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344
NM_001130438.3(SPTAN1):c.7102G>C (p.Glu2368Gln) rs796053329
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995
NM_001134831.2(AHI1):c.-140+1G>T rs145372075
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001136193.2(FASTKD2):c.-51A>G rs116297724
NM_001136193.2(FASTKD2):c.149A>G (p.Lys50Arg) rs141447598
NM_001136193.2(FASTKD2):c.29G>C (p.Ser10Thr) rs147727753
NM_001136194.1(FASTKD2):c.1435G>T (p.Val479Leu) rs145043229
NM_001145026.2(PTPRQ):c.202G>A (p.Gly68Arg) rs61729303
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496
NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala) rs61741040
NM_001164277.1(SLC37A4):c.1275C>T (p.Ser425=) rs35010541
NM_001165928.3(DAG1):c.259A>G (p.Ile87Val) rs116717961
NM_001171155.2(PET100):c.82G>A (p.Glu28Lys) rs4134804
NM_001172697.1(TSFM):c.571+3286G>A rs114694283
NM_001182.4(ALDH7A1):c.-34G>C rs140627539
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684
NM_001184.4(ATR):c.268C>T (p.His90Tyr) rs28897763
NM_001193466.2(KANSL1):c.773T>C (p.Leu258Ser) rs145714368
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val) rs181295720
NM_001194998.2(CEP152):c.3278G>A (p.Cys1093Tyr) rs74012142
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln) rs200226466
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728
NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr) rs374694591
NM_001205254.2(OCLN):c.922G>A (p.Val308Met) rs369518478
NM_001253816.1(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812
NM_001256850.1(TTN):c.22427-10C>A rs72648975
NM_001257988.1(TYMP):c.242G>A (p.Arg81Gln) rs143789597
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His) rs148169214
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703
NM_001271.4(CHD2):c.4534C>T (p.Arg1512Trp) rs755898320
NM_001271.4(CHD2):c.4592+18G>A rs116022337
NM_001271208.2(NEB):c.21790G>C (p.Asp7264His) rs201979610
NM_001271208.2(NEB):c.23600C>T (p.Thr7867Ile) rs34368668
NM_001271208.2(NEB):c.4206T>A (p.Asn1402Lys) rs201169452
NM_001271208.2(NEB):c.4466G>A (p.Gly1489Asp) rs74482326
NM_001271208.2(NEB):c.539A>G (p.Lys180Arg) rs200719359
NM_001277269.1(OTOG):c.2548G>C (p.Gly850Arg) rs61734214
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061
NM_001291303.1(FAT4):c.10810A>C (p.Ile3604Leu) rs76491994
NM_001291303.1(FAT4):c.14663C>G (p.Ala4888Gly) rs35340865
NM_001291303.1(FAT4):c.14666G>A (p.Arg4889Lys) rs35845544
NM_001291303.1(FAT4):c.6733G>A (p.Val2245Ile) rs112971995
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp) rs113058506
NM_001303.4(COX10):c.682C>T (p.Arg228Cys) rs114521946
NM_001308211.1(EARS2):c.1412A>C (p.Lys471Thr) rs137973249
NM_001308211.1(EARS2):c.16A>G (p.Arg6Gly) rs113722817
NM_001308211.1(EARS2):c.322C>T (p.Arg108Trp) rs376103091
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732
NM_001330078.2(NRXN1):c.772+1140G>A rs61658382
NM_001347721.2(DYRK1A):c.208-40C>G rs140466090
NM_001360.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001360.2(DHCR7):c.25A>T (p.Ile9Phe) rs115595829
NM_001363.4(DKC1):c.-142C>G rs199422241
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001
NM_001367624.1(ZNF469):c.2407G>T (p.Ala803Ser) rs113484918
NM_001367624.1(ZNF469):c.5087C>T (p.Pro1696Leu) rs115487796
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309
NM_001457.4(FLNB):c.1559C>T (p.Pro520Leu) rs138220431
NM_001457.4(FLNB):c.1919C>T (p.Thr640Met) rs62621999
NM_001482.3(GATM):c.407C>T (p.Thr136Met) rs148564534
NM_001614.5(ACTG1):c.123+8G>A rs536476533
NM_001625.4(AK2):c.625G>A (p.Ala209Thr) rs12116440
NM_001698.2(AUH):c.182C>A (p.Pro61His) rs181327211
NM_001698.2(AUH):c.20C>T (p.Ala7Val) rs863223911
NM_001848.2(COL6A1):c.2424G>T (p.Gln808His) rs140547835
NM_001849.3(COL6A2):c.1970-9G>A rs747900252
NM_001849.3(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588
NM_001849.3(COL6A2):c.832G>A (p.Glu278Lys) rs61735835
NM_001852.4(COL9A2):c.364-16A>G rs1979785
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr) rs76340296
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287
NM_002206.3(ITGA7):c.1609C>T (p.Arg537Trp) rs61733050
NM_002206.3(ITGA7):c.46T>G (p.Cys16Gly) rs142060614
NM_002291.3(LAMB1):c.3124G>A (p.Gly1042Ser) rs149204722
NM_002454.3(MTRR):c.1982A>G (p.His661Arg) rs148909799
NM_002471.3(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550
NM_002485.4(NBN):c.1882G>A (p.Glu628Lys) rs115321485
NM_002488.4(NDUFA2):c.40C>G (p.Leu14Val) rs35672074
NM_002529.3(NTRK1):c.2339G>A (p.Arg780Gln) rs35669708
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841
NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) rs199759055
NM_002693.2(POLG):c.119_121GGC[4] (p.Arg42dup) rs761080016
NM_002693.2(POLG):c.126_128GCA[13] (p.Gln54_Gln55dup) rs41550117
NM_002693.2(POLG):c.126_128GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.2(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002693.2(POLG):c.911T>G (p.Leu304Arg) rs121918044
NM_002693.2(POLG):c.948G>A (p.Lys316=) rs61756401
NM_002834.4(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.4(PTPN11):c.526-8C>A rs184804143
NM_002968.2(SALL1):c.379G>C (p.Val127Leu) rs138635817
NM_002977.3(SCN9A):c.3328C>T (p.Arg1110Trp) rs190664764
NM_002977.3(SCN9A):c.554G>A (p.Arg185His) rs73969684
NM_002977.3(SCN9A):c.5678G>A (p.Arg1893His) rs79805025
NM_002977.3(SCN9A):c.5746C>T (p.Leu1916Phe) rs111558968
NM_002977.3(SCN9A):c.684C>G (p.Ile228Met) rs71428908
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921
NM_003156.3(STIM1):c.1571C>T (p.Ser524Phe) rs141215990
NM_003238.5(TGFB2):c.619G>C (p.Val207Leu) rs10482810
NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala) rs104894963
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997
NM_003850.2(SUCLA2):c.256A>G (p.Ile86Val) rs61756204
NM_003850.2(SUCLA2):c.811A>G (p.Met271Val) rs142020748
NM_004006.2(DMD):c.10087-20C>T rs41303187
NM_004006.2(DMD):c.1666G>A (p.Asp556Asn) rs182708940
NM_004006.2(DMD):c.5182C>T (p.Arg1728Cys) rs34102501
NM_004046.6(ATP5F1A):c.25G>A (p.Ala9Thr) rs141639003
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) rs148246073
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) rs752742151
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331
NM_004321.7(KIF1A):c.2782G>A (p.Val928Met) rs183359489
NM_004321.7(KIF1A):c.4301C>T (p.Ala1434Val) rs141441058
NM_004321.7(KIF1A):c.4718+16C>T rs138847355
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787
NM_004369.3(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501
NM_004369.3(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723
NM_004369.3(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596
NM_004369.3(COL6A3):c.9524T>C (p.Met3175Thr) rs148183839
NM_004376.6(COX15):c.988-8C>A rs542092025
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004456.4(EZH2):c.2028T>C (p.Asn676=) rs115842196
NM_004544.3(NDUFA10):c.1000-10delT rs863224081
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421
NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) rs147240502
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_004589.4(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser) rs76440173
NM_004895.4(NLRP3):c.598G>A (p.Val200Met) rs121908147
NM_004984.4(KIF5A):c.820-19G>T rs181688415
NM_004985.5(KRAS):c.528_530GAA[1] (p.Lys180del) rs397517043
NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) rs56268439
NM_004992.3(MECP2):c.590C>T (p.Thr197Met) rs61749714
NM_004992.3(MECP2):c.996C>T (p.Ser332=) rs148744894
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826
NM_005045.3(RELN):c.1290-3dupT rs146986040
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser) rs73714410
NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln) rs143288344
NM_005120.3(MED12):c.1248+15T>C rs187377817
NM_005188.3(CBL):c.107_109ACC[8] (p.His42dup) rs373212940
NM_005188.3(CBL):c.2036+9G>T rs142704935
NM_005188.3(CBL):c.2710G>A (p.Val904Ile) rs17122769
NM_005198.4(CHKB):c.983A>G (p.Gln328Arg) rs141381896
NM_005249.5(FOXG1):c.1045T>G (p.Ser349Ala) rs796052472
NM_005327.5(HADH):c.275T>G (p.Phe92Cys) rs61735992
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) rs189548179
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met) rs200164926
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069
NM_005603.6(ATP8B1):c.1739G>A (p.Ser580Asn) rs33963153
NM_005629.4(SLC6A8):c.1141+18G>A rs187400676
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.2167+6T>G rs186640807
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile) rs2230017
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) rs184420466
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783
NM_006059.4(LAMC3):c.146A>G (p.Gln49Arg) rs201962705
NM_006059.4(LAMC3):c.1630+5C>G rs184221540
NM_006059.4(LAMC3):c.1792G>A (p.Gly598Arg) rs116422150
NM_006059.4(LAMC3):c.2039C>T (p.Thr680Met) rs73658916
NM_006129.5(BMP1):c.2234-20C>T rs142089697
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006231.3(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val) rs142768885
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln) rs142032474
NM_006348.3(COG5):c.1340A>G (p.Tyr447Cys) rs41276187
NM_006416.5(SLC35A1):c.19A>C (p.Asn7His) rs114156788
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser) rs73113975
NM_006612.6(KIF1C):c.1165+4G>A rs192489748
NM_006702.5(PNPLA6):c.1340C>T (p.Pro447Leu) rs145191932
NM_006767.4(LZTR1):c.1353+8C>G rs75959644
NM_006904.6(PRKDC):c.10376A>G (p.Asn3459Ser) rs8178228
NM_006920.6(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_006920.6(SCN1A):c.5831T>C (p.Ile1944Thr) rs35735053
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502
NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala) rs61755576
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165
NM_007103.4(NDUFV1):c.1163-12del rs147787116
NM_007171.3(POMT1):c.1565G>A (p.Arg522Lys) rs117985576
NM_007171.3(POMT1):c.1611C>G (p.Ser537Arg) rs150367385
NM_007215.4(POLG2):c.122G>A (p.Gly41Glu) rs146504115
NM_007215.4(POLG2):c.674G>A (p.Arg225Gln) rs148101254
NM_007254.3(PNKP):c.1189-22_1189-19delTTGT rs368832563
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn) rs3739186
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410
NM_013275.6(ANKRD11):c.2171_2174CAAA[1] (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.744+18C>G rs147328392
NM_013296.5(GPSM2):c.1820C>T (p.Ser607Phe) rs35322815
NM_013335.4(GMPPA):c.40+15G>A rs80239182
NM_013339.4(ALG6):c.751A>G (p.Thr251Ala) rs61755863
NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln) rs79530903
NM_014080.4(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_014191.4(SCN8A):c.3148G>A (p.Gly1050Ser) rs202006479
NM_014254.3(RXYLT1):c.275C>T (p.Thr92Met) rs73122634
NM_014297.5(ETHE1):c.61G>T (p.Ala21Ser) rs116440799
NM_014467.3(SRPX2):c.460C>G (p.His154Asp) rs73636611
NM_014646.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503
NM_014908.3(DOLK):c.1dup (p.Met1fs) rs531969689
NM_014946.3(SPAST):c.879G>A (p.Pro293=) rs145264166
NM_015120.4(ALMS1):c.11875+18G>A rs139647347
NM_015120.4(ALMS1):c.3095C>G (p.Thr1032Ser) rs199922877
NM_015120.4(ALMS1):c.8838C>G (p.Asn2946Lys) rs35062203
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu) rs116890187
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val) rs41291570
NM_015697.8(COQ2):c.574A>G (p.Thr192Ala) rs144913206
NM_015697.8(COQ2):c.587A>G (p.Asn196Ser) rs150295921
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) rs114276563
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442
NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser) rs79760961
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys) rs200461412
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe) rs186745328
NM_016373.4(WWOX):c.835C>T (p.Arg279Cys) rs77314072
NM_016579.4(CD320):c.256_258GAG[2] (p.Glu88del) rs150384171
NM_017651.4(AHI1):c.3368C>T rs117447608
NM_017668.3(NDE1):c.572C>T (p.Thr191Ile) rs113493697
NM_017777.3(MKS1):c.1436G>A (p.Arg479His) rs111315726
NM_017819.4(TRMT10C):c.492G>C (p.Lys164Asn) rs16844031
NM_017827.3(SARS2):c.393+149delA rs375344827
NM_017837.3(PIGV):c.615C>T (p.Asn205=) rs34512715
NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys) rs35564486
NM_018100.4(EFHC1):c.1069G>A (p.Glu357Lys) rs505760
NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly) rs3804506
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776
NM_018122.5(DARS2):c.1642C>A (p.Leu548Met) rs149660059
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu) rs148425392
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala) rs79572771
NM_018328.4(MBD5):c.3310A>G (p.Ile1104Val) rs115940994
NM_018341.3(ERMARD):c.1162A>G (p.Asn388Asp) rs151283330
NM_018341.3(ERMARD):c.563T>C (p.Val188Ala) rs74451194
NM_018389.4(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018451.5(CENPJ):c.287A>G (p.His96Arg) rs61739263
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165
NM_018718.3(CEP41):c.422+7G>A rs190680511
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736
NM_018849.3(ABCB4):c.523A>G (p.Thr175Ala) rs58238559
NM_018941.3(CLN8):c.274C>T (p.His92Tyr) rs34030778
NM_019109.4(ALG1):c.554T>G (p.Phe185Cys) rs112668461
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490
NM_020435.4(GJC2):c.108C>T (p.Ile36=) rs75469429
NM_020435.4(GJC2):c.947C>T (p.Pro316Leu) rs760502262
NM_020442.5(VARS2):c.1514C>T (p.Ser505Phe) rs61746524
NM_020549.4(CHAT):c.1682G>A (p.Arg561Gln) rs80097077
NM_020631.5(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400
NM_020745.4(AARS2):c.1196A>G (p.Asn399Ser) rs113433939
NM_020745.4(AARS2):c.2629C>T (p.Arg877Trp) rs112247130
NM_020751.3(COG6):c.898C>T (p.His300Tyr) rs34555836
NM_020822.3(KCNT1):c.2943+6C>T rs28612938
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile) rs147551342
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855
NM_021939.3(FKBP10):c.1400-4C>G rs114199361
NM_022114.4(PRDM16):c.553A>G (p.Met185Val) rs376567517
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422
NM_022445.4(TPK1):c.98G>A (p.Arg33His) rs77358162
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg) rs35581768
NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln) rs148919174
NM_023073.3(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666
NM_023073.3(CPLANE1):c.8796+4A>C rs199810663
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln) rs147632811
NM_024537.4(CARS2):c.1624-12C>G rs115116722
NM_024592.5(SRD5A3):c.925C>G (p.His309Asp) rs61733673
NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly) rs17076894
NM_024675.3(PALB2):c.2794G>A (p.Val932Met) rs45624036
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107
NM_024740.2(ALG9):c.1604T>G (p.Ile535Ser) rs12575909
NM_024790.6(CSPP1):c.212A>G (p.Lys71Arg) rs200158932
NM_024996.5(GFM1):c.568A>C (p.Met190Leu) rs75450876
NM_025114.3(CEP290):c.251-11T>A rs200666995
NM_025114.3(CEP290):c.2980G>A (p.Glu994Lys) rs182369459
NM_025114.3(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.523C>A (p.Gln175Lys) rs202159966
NM_025114.3(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025
NM_025114.3(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467
NM_025137.3(SPG11):c.258-6delT rs373234269
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327
NM_025152.3(NUBPL):c.815-27T>C rs118161496
NM_030665.4(RAI1):c.1775G>A (p.Arg592Gln) rs141808855
NM_030962.3(SBF2):c.513+17G>C rs73410819
NM_031475.3(ESPN):c.1709C>T (p.Pro570Leu) rs527968078
NM_032043.2(BRIP1):c.1433A>G (p.His478Arg) rs45501097
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn) rs199839743
NM_032119.4(ADGRV1):c.1839+7G>A rs142011700
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val) rs16868935
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_032119.4(ADGRV1):c.7945+6C>T rs139278305
NM_032382.4(COG8):c.1591C>T (p.Pro531Ser) rs76253513
NM_032551.5(KISS1R):c.565G>A (p.Ala189Thr) rs73507527
NM_032578.3(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730
NM_032634.4(PIGO):c.461C>A (p.Ala154Asp) rs142562923
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr) rs34270473
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala) rs180849348
NM_033087.4(ALG2):c.30C>G (p.Asp10Glu) rs7023652
NM_033109.5(PNPT1):c.944A>G (p.Lys315Arg) rs35405862
NM_033641.4(COL4A6):c.2653G>T (p.Val885Phe) rs112034997
NM_052865.4(MGME1):c.532C>T (p.Arg178Trp) rs143417446
NM_052865.4(MGME1):c.86C>G (p.Ser29Cys) rs143811282
NM_054012.4(ASS1):c.106-10T>G rs73541957
NM_054012.4(ASS1):c.766G>A (p.Glu256Lys) rs74923032
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_080679.2(COL11A2):c.2015C>T (p.Pro672Leu) rs150877886
NM_080679.2(COL11A2):c.4679G>A (p.Arg1560His) rs146555195
NM_080877.2(SLC34A3):c.448+1G>A rs150841256
NM_139242.4(MTFMT):c.16C>T (p.Arg6Trp) rs199599204
NM_144612.6(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005
NM_145207.3(SPATA5):c.1877G>C (p.Trp626Ser) rs375343753
NM_145207.3(SPATA5):c.983_985CAA[2] (p.Thr330del) rs796052243
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met) rs62073570
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152299.4(NCAPH2):c.*261G>A rs8139305
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile) rs61743028
NM_153006.3(NAGS):c.182A>G (p.Glu61Gly) rs113134544
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547
NM_172107.4(KCNQ2):c.1545G>T (p.Glu515Asp) rs117067974
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu) rs145448362
NM_173630.4(RTTN):c.6038G>T (p.Cys2013Phe) rs145976466
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp) rs558341655
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220
NM_181882.2(PRX):c.731C>T (p.Ala244Val) rs118071705
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile) rs4870093
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506
NM_198076.6(COX20):c.92G>A (p.Arg31Gln) rs764620077
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753
NM_198576.4(AGRN):c.3264G>C (p.Leu1088Phe) rs150132566
NM_198576.4(AGRN):c.4540G>A (p.Ala1514Thr) rs111818381
NM_203447.3(DOCK8):c.54-1G>T rs192864327
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NM_207346.3(TSEN54):c.1328C>G (p.Ser443Cys) rs150169668
NM_213599.2(ANO5):c.2354T>G (p.Leu785Arg) rs146136277
NM_213599.2(ANO5):c.2698A>C (p.Met900Leu) rs148293985

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