ClinVar Miner

Variants with conflicting interpretations between Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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
0 554 0 347 69 7 12 435

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 other
pathogenic 0 4 4 0 0 1
likely pathogenic 6 0 2 0 0 0
uncertain significance 2 2 0 22 13 0
likely benign 0 1 29 0 325 2
benign 0 1 5 12 0 4

All variants with conflicting interpretations #

Total variants: 435
Download table as spreadsheet
HGVS dbSNP
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000036.2(AMPD1):c.433G>A (p.Val145Met) rs61741025
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448
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.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.628A>G (p.Ile210Val) rs61733680
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000070.3(CAPN3):c.1029+3A>G rs28364442
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000110.3(DPYD):c.775A>G (p.Lys259Glu) rs45589337
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000141.4(FGFR2):c.170C>T (p.Ser57Leu) rs56226109
NM_000142.4(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656
NM_000142.4(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000157.4(GBA):c.1223C>T (p.Thr408Met) rs75548401
NM_000168.6(GLI3):c.1357-17C>G rs190600888
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816
NM_000218.2(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln) rs77080672
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_000277.3(PAH):c.707-7A>T rs62508624
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952
NM_000356.4(TCOF1):c.797G>A (p.Ser266Asn) rs144327167
NM_000356.4(TCOF1):c.998C>T (p.Ser333Leu) rs114326915
NM_000377.2(WAS):c.538C>A (p.His180Asn) rs145040665
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092
NM_000426.3(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866
NM_000426.3(LAMA2):c.4437-5T>A rs41285288
NM_000426.3(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000426.3(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457
NM_000445.5(PLEC):c.10042G>A (p.Gly3348Arg) rs34132016
NM_000445.5(PLEC):c.12752C>G (p.Ala4251Gly) rs368212208
NM_000445.5(PLEC):c.4679G>A (p.Arg1560Gln) rs201430180
NM_000445.5(PLEC):c.5557C>T (p.Arg1853Trp) rs200575795
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000480.3(AMPD3):c.958G>T (p.Val320Leu) rs117706710
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1312A>G (p.Thr438Ala) rs201434579
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.164+28A>G rs34010645
NM_000492.3(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000495.5(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000515.5(GH1):c.406G>A (p.Val136Ile) rs5388
NM_000528.3(MAN2B1):c.2267+8dupG rs572289342
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747
NM_000540.2(RYR1):c.11941C>T (p.His3981Tyr) rs148772854
NM_000540.2(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023
NM_000540.2(RYR1):c.2122G>A (p.Asp708Asn) rs138874610
NM_000541.5(SAG):c.301G>A (p.Ala101Thr) rs141521563
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu) rs199915216
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met) rs35785620
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
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_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766
NM_000744.6(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127
NM_001005207.5(TRIM37):c.398C>T (p.Ala133Val) rs61758100
NM_001017995.3(SH3PXD2B):c.1612_1617GAGCGG[2] (p.538_539ER[2]) rs534091900
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met) rs146157131
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980
NM_001042537.1(SLC9A6):c.1703G>A (p.Arg568Gln) rs146263125
NM_001048166.1(STIL):c.1055G>A (p.Arg352His) rs141678367
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735
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.961G>A (p.Val321Met) rs115784602
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.1978G>C (p.Val660Leu) rs16892134
NM_001080522.2(CC2D2A):c.2813T>C (p.Met938Thr) rs61740537
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509
NM_001083602.2(PTCH1):c.1985C>T (p.Thr662Met) rs115556836
NM_001083602.2(PTCH1):c.3385A>T (p.Thr1129Ser) rs2236405
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499
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_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865
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.2690C>G (p.Pro897Arg) rs121908242
NM_001127221.1(CACNA1A):c.2740C>T (p.Pro914Ser) rs16020
NM_001127221.1(CACNA1A):c.6661_6662insACC (p.His2220dup) rs768950814
NM_001127500.3(MET):c.2962C>T (p.Arg988Cys) rs34589476
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751
NM_001128209.2(SGCD):c.696+13_696+15del rs397517924
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843
NM_001128227.3(GNE):c.-10G>A rs73449614
NM_001128425.1(MUTYH):c.312C>T (p.Tyr104=) rs121908380
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086
NM_001136193.2(FASTKD2):c.-51A>G rs116297724
NM_001142301.1(TMEM67):c.2522-6del rs747342409
NM_001161352.2(KCNMA1):c.117_119CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.144_146TTC[3] (p.Ser60del) rs751901610
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val) rs181295720
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728
NM_001202.6(BMP4):c.370+28G>A rs72680532
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.98390A>G (p.Asn32797Ser) rs149001703
NM_001271208.2(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001271208.2(NEB):c.4206T>A (p.Asn1402Lys) rs201169452
NM_001271208.2(NEB):c.4466G>A (p.Gly1489Asp) rs74482326
NM_001271620.2(ZNF423):c.2960C>T (p.Ala987Val) rs111229124
NM_001277269.1(OTOG):c.6110C>T (p.Ala2037Val) rs61736002
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462
NM_001308211.1(EARS2):c.322C>T (p.Arg108Trp) rs376103091
NM_001318510.2(ACSL4):c.806+3A>G rs183171123
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001
NM_001367624.1(ZNF469):c.10795G>T (p.Ala3599Ser) rs199760004
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001457.4(FLNB):c.1559C>T (p.Pro520Leu) rs138220431
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe) rs147846832
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508
NM_001698.2(AUH):c.182C>A (p.Pro61His) rs181327211
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041
NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg) rs146329532
NM_001848.2(COL6A1):c.1182+3G>A rs62215499
NM_001848.2(COL6A1):c.2424G>T (p.Gln808His) rs140547835
NM_001849.3(COL6A2):c.1970-9G>A rs747900252
NM_001849.3(COL6A2):c.2351G>A (p.Arg784His) rs75120695
NM_001849.3(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588
NM_001849.3(COL6A2):c.316G>A (p.Glu106Lys) rs141703710
NM_001849.3(COL6A2):c.832G>A (p.Glu278Lys) rs61735835
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val) rs113651939
NM_002351.4(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) rs41287112
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.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.948G>A (p.Lys316=) rs61756401
NM_002834.4(PTPN11):c.526-8C>A rs184804143
NM_002857.3(PEX19):c.771+3A>G rs141133579
NM_002968.2(SALL1):c.809C>T (p.Pro270Leu) rs140827311
NM_002977.3(SCN9A):c.2215A>G (p.Ile739Val) rs182650126
NM_002977.3(SCN9A):c.2359A>G (p.Met787Val) rs149707354
NM_002977.3(SCN9A):c.3328C>T (p.Arg1110Trp) rs190664764
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921
NM_003124.5(SPR):c.112G>A (p.Val38Ile) rs146099322
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997
NM_003482.3(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282
NM_003482.3(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602
NM_003482.3(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011
NM_003482.3(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689
NM_003482.3(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869
NM_003688.3(CASK):c.2282G>A (p.Arg761Gln) rs137964936
NM_003722.5(TP63):c.192-9_192-8del rs794727498
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) rs138642043
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val) rs118109635
NM_004006.2(DMD):c.10087-20C>T rs41303187
NM_004006.2(DMD):c.1666G>A (p.Asp556Asn) rs182708940
NM_004260.3(RECQL4):c.161A>G (p.Gln54Arg) rs35198096
NM_004260.3(RECQL4):c.1879-15C>A rs35126141
NM_004281.3(BAG3):c.1138C>T (p.Pro380Ser) rs144692954
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084
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.5610C>A (p.Ser1870Arg) rs113153193
NM_004369.3(COL6A3):c.9524T>C (p.Met3175Thr) rs148183839
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275
NM_004463.3(FGD1):c.676G>A (p.Ala226Thr) rs138723423
NM_004484.3(GPC3):c.826G>A (p.Gly276Ser) rs141100113
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu) rs41277835
NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) rs56268439
NM_004992.3(MECP2):c.378-17delT rs61753982
NM_004992.3(MECP2):c.590C>T (p.Thr197Met) rs61749714
NM_005045.3(RELN):c.1290-3dupT rs146986040
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg) rs2229860
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) rs115913736
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239
NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser) rs114807343
NM_005219.5(DIAPH1):c.1821_1823TCC[12] (p.Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821_1823TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005270.4(GLI2):c.3349G>T (p.Val1117Leu) rs147580961
NM_005270.4(GLI2):c.3590G>A (p.Gly1197Asp) rs114823319
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005634.2(SOX3):c.14G>A (p.Arg5Gln) rs112180170
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860
NM_005802.5(TOPORS):c.74C>G (p.Ser25Trp) rs61758066
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044
NM_006005.3(WFS1):c.712+16G>A rs71524367
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.1630+5C>G rs184221540
NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln) rs146221263
NM_006059.4(LAMC3):c.3379G>A (p.Glu1127Lys) rs140955110
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_006416.5(SLC35A1):c.7G>T (p.Ala3Ser) rs149903512
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser) rs73113975
NM_006493.2(CLN5):c.49G>C (p.Gly17Arg) rs202118652
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu) rs145061343
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn) rs139339184
NM_006662.3(SRCAP):c.3868A>G (p.Ser1290Gly) rs150246733
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala) rs117804715
NM_006702.5(PNPLA6):c.3964G>A (p.Gly1322Ser) rs145178162
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035
NM_006920.6(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_006920.6(SCN1A):c.5831T>C (p.Ile1944Thr) rs35735053
NM_007171.3(POMT1):c.1565G>A (p.Arg522Lys) rs117985576
NM_007171.3(POMT1):c.1764C>T (p.Ser588=) rs150814269
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile) rs74360232
NM_013227.3(ACAN):c.7075G>A (p.Val2359Ile) rs150555123
NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys) rs143790434
NM_014009.3(FOXP3):c.543C>T (p.Ser181=) rs2232367
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845
NM_014324.6(AMACR):c.554T>C (p.Val185Ala) rs145786819
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169
NM_014491.3(FOXP2):c.618_620dupGCA (p.Gln209_Leu210insGln) rs111544687
NM_014639.3(TTC37):c.4187A>G (p.Asn1396Ser) rs116690692
NM_014780.4(CUL7):c.3490C>T (p.Arg1164Trp) rs201135654
NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met) rs143438888
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503
NM_014908.3(DOLK):c.1dup (p.Met1fs) rs531969689
NM_015074.3(KIF1B):c.1977+6956A>G rs148481786
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581
NM_015120.4(ALMS1):c.10631C>G (p.Thr3544Ser) rs45501594
NM_015120.4(ALMS1):c.10754A>T (p.Gln3585Leu) rs144486524
NM_015120.4(ALMS1):c.3095C>G (p.Thr1032Ser) rs199922877
NM_015120.4(ALMS1):c.36_38GGA[17] (p.Glu27_Glu29dup) rs55889738
NM_015192.4(PLCB1):c.3116T>C (p.Ile1039Thr) rs75820839
NM_015243.2(VPS13B):c.1559A>G (p.His520Arg) rs143205296
NM_015243.2(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510
NM_015386.3(COG4):c.1759C>A (p.Gln587Lys) rs113455884
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273
NM_015548.5(DST):c.22del (p.Tyr8fs) rs775912185
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867
NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu) rs147529965
NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser) rs79760961
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076
NM_016513.4(ICK):c.831+5del rs200780900
NM_016579.4(CD320):c.256_258GAG[2] (p.Glu88del) rs150384171
NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln) rs34161789
NM_017651.4(AHI1):c.3368C>T rs117447608
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638
NM_017780.4(CHD7):c.4534-13T>G rs114996731
NM_017890.4(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722
NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) rs111751379
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_017929.6(PEX26):c.130C>T (p.Leu44Phe) rs150895887
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334
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.662G>A (p.Arg221His) rs79761183
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209
NM_018328.4(MBD5):c.3044A>G (p.Gln1015Arg) rs143028540
NM_018714.3(COG1):c.401C>T (p.Ser134Leu) rs146066919
NM_018714.3(COG1):c.903G>C (p.Gln301His) rs117208167
NM_018849.3(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619
NM_018849.3(ABCB4):c.523A>G (p.Thr175Ala) rs58238559
NM_018941.3(CLN8):c.274C>T (p.His92Tyr) rs34030778
NM_018965.3(TREM2):c.185G>A (p.Arg62His) rs143332484
NM_018965.3(TREM2):c.469C>T (p.His157Tyr) rs2234255
NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val) rs111759069
NM_019066.5(MAGEL2):c.2074G>A (p.Val692Ile) rs200926181
NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro) rs146970674
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) rs138628273
NM_020223.4(FAM20C):c.1681G>A (p.Val561Met) rs145750007
NM_020751.3(COG6):c.898C>T (p.His300Tyr) rs34555836
NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr) rs139659618
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181
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.59G>C (p.Gly20Ala) rs146292575
NM_021072.4(HCN1):c.203_205GCG[4] (p.Gly72_Gly74del) rs747975797
NM_021072.4(HCN1):c.203_205GCG[5] (p.Gly73_Gly74del) rs747975797
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile) rs115800498
NM_023073.3(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val) rs147223770
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282
NM_024675.3(PALB2):c.2794G>A (p.Val932Met) rs45624036
NM_024675.3(PALB2):c.53A>G (p.Lys18Arg) rs138789658
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) rs148509395
NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT rs745522483
NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_030665.4(RAI1):c.3778_3780GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met) rs368106957
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val) rs142981643
NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) rs141330687
NM_031885.4(BBS2):c.1864C>T (p.Arg622Ter) rs201196733
NM_031885.4(BBS2):c.805-20A>G rs41280892
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) rs41303350
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val) rs142013761
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_032682.5(FOXP1):c.1702C>T (p.Pro568Ser) rs147674680
NM_033056.4(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363
NM_033056.4(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala) rs180849348
NM_033087.4(ALG2):c.30C>G (p.Asp10Glu) rs7023652
NM_054012.4(ASS1):c.106-10T>G rs73541957
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_080669.6(SLC46A1):c.1366C>T (p.Pro456Ser) rs186143284
NM_080679.2(COL11A2):c.1696-5T>G rs200523422
NM_080877.2(SLC34A3):c.448+1G>A rs150841256
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613
NM_133433.4(NIPBL):c.6109-3T>C rs145778995
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476
NM_144612.6(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_147127.4(EVC2):c.1711-11_1711-10dupTT rs35103377
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile) rs112829587
NM_153704.5(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935
NM_182914.2(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973
NM_182914.2(SYNE2):c.20161G>A (p.Ala6721Thr) rs140897155
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_183059.2(RD3):c.584A>T (p.Asp195Val) rs143207434
NM_194318.4(B3GLCT):c.733G>A (p.Val245Met) rs34830061
NM_198270.4(NHS):c.211C>T (p.Pro71Ser) rs398124605
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212
NM_213599.2(ANO5):c.2698A>C (p.Met900Leu) rs148293985

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