ClinVar Miner

Variants with conflicting interpretations "likely benign" from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics and "uncertain significance" from any submitter

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:
ClinVar version:
Total variants with conflicting interpretations: 379
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HGVS dbSNP
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000036.2(AMPD1):c.481-6dupT rs727503806
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643
NM_000059.3(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val) rs35534614
NM_000081.3(LYST):c.10941-7C>A rs72761794
NM_000081.3(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
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.613C>G (p.Pro205Ala) rs72667032
NM_000089.3(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000094.3(COL7A1):c.4612C>T (p.Arg1538Cys) rs149711883
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000135.4(FANCA):c.1359+10C>T rs34159559
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000157.4(GBA):c.1223C>T (p.Thr408Met) rs75548401
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000170.2(GLDC):c.2919+3A>G rs73639325
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816
NM_000222.2(KIT):c.532G>A (p.Ala178Thr) rs115585711
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg) rs56314834
NM_000267.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936
NM_000335.4(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117
NM_000356.4(TCOF1):c.640-1981_640-1964del rs528897827
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) rs142404759
NM_000377.2(WAS):c.538C>A (p.His180Asn) rs145040665
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.5530C>A (p.Arg1844Ser) rs56173620
NM_000445.5(PLEC):c.12752C>G (p.Ala4251Gly) rs368212208
NM_000445.5(PLEC):c.4679G>A (p.Arg1560Gln) rs201430180
NM_000481.3(AMT):c.1145G>A (p.Arg382Gln) rs141246107
NM_000481.3(AMT):c.898A>G (p.Met300Val) rs144971200
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu) rs139717960
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000541.5(SAG):c.301G>A (p.Ala101Thr) rs141521563
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.5(TSC2):c.1839+6G>A rs45517204
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) rs61754130
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met) rs146157131
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001031737.3(CCDC78):c.492+1G>A rs138669350
NM_001037.5(SCN1B):c.448+193G>A rs66876876
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp) rs149447502
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566
NM_001080116.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338
NM_001080510.4(METTL23):c.569T>C (p.Leu190Pro) rs147321492
NM_001080522.2(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509
NM_001083602.2(PTCH1):c.1018-6C>A rs186008764
NM_001083602.2(PTCH1):c.1985C>T (p.Thr662Met) rs115556836
NM_001083602.2(PTCH1):c.2480G>A (p.Arg827His) rs138154222
NM_001083602.2(PTCH1):c.3289G>A (p.Gly1097Ser) rs113663584
NM_001083961.2(WDR62):c.1641G>T (p.Thr547=) rs2301734
NM_001083961.2(WDR62):c.2666T>C (p.Met889Thr) rs139749569
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg) rs12327568
NM_001083962.2(TCF4):c.1487-5G>A rs749176054
NM_001098484.3(SLC4A4):c.2764-2dup rs148961885
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu) rs782168634
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617
NM_001113378.1(FANCI):c.2011A>G (p.Ile671Val) rs139814895
NM_001113378.1(FANCI):c.2604A>C (p.Glu868Asp) rs118031800
NM_001113378.1(FANCI):c.2832A>C (p.Arg944Ser) rs79685648
NM_001123383.1(BCOR):c.2203A>G (p.Ile735Val) rs768557634
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_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843
NM_001130438.3(SPTAN1):c.7414C>T (p.Arg2472Cys) rs759975874
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086
NM_001136193.2(FASTKD2):c.2093C>T (p.Ala698Val) rs146554705
NM_001142864.4(PIEZO1):c.3667G>A (p.Val1223Ile) rs185326407
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496
NM_001161352.2(KCNMA1):c.144_146TTC[3] (p.Ser60del) rs751901610
NM_001168272.1(ITPR1):c.1435G>A (p.Val479Ile) rs41289628
NM_001172435.2(RAB3GAP1):c.1006C>T (p.Arg336Cys) rs150478342
NM_001172697.1(TSFM):c.571+3328C>A rs62000432
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) rs77208665
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.2(PCDH19):c.3439G>A (p.Val1147Ile) rs138771033
NM_001193466.2(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439
NM_001194998.2(CEP152):c.3278G>A (p.Cys1093Tyr) rs74012142
NM_001256182.2(ANKRD11):c.7519C>A (p.Gln2507Lys) rs572878194
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273
NM_001271208.2(NEB):c.3826C>A (p.Pro1276Thr) rs34234609
NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys) rs182389910
NM_001277115.2(DNAH11):c.12561T>G (p.Asp4187Glu) rs148429731
NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser) rs72655967
NM_001277115.2(DNAH11):c.6416G>A (p.Arg2139Lys) rs140048925
NM_001277115.2(DNAH11):c.8969G>A (p.Arg2990His) rs72657371
NM_001291303.1(FAT4):c.14666G>A (p.Arg4889Lys) rs35845544
NM_001303.4(COX10):c.682C>T (p.Arg228Cys) rs114521946
NM_001318510.2(ACSL4):c.1325A>G (p.Tyr442Cys) rs200451158
NM_001318510.2(ACSL4):c.806+3A>G rs183171123
NM_001363.4(DKC1):c.-142C>G rs199422241
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001
NM_001369.2(DNAH5):c.299G>C (p.Gly100Ala) rs144236383
NM_001369.2(DNAH5):c.5272-15dupT rs35337694
NM_001605.2(AARS1):c.2459A>G (p.Lys820Arg) rs147319762
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_001848.2(COL6A1):c.1182+3G>A rs62215499
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499
NM_001875.4(CPS1):c.3141+15delA rs577707531
NM_001916.5(CYC1):c.227T>C (p.Met76Thr) rs144257411
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637
NM_002016.1(FLG):c.7801G>A (p.Asp2601Asn) rs146849256
NM_002206.3(ITGA7):c.1281+13G>A rs143895796
NM_002206.3(ITGA7):c.1609C>T (p.Arg537Trp) rs61733050
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val) rs113651939
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala) rs80299691
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841
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.803G>C (p.Gly268Ala) rs61752784
NM_002834.4(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002857.3(PEX19):c.771+3A>G rs141133579
NM_002977.3(SCN9A):c.3328C>T (p.Arg1110Trp) rs190664764
NM_002977.3(SCN9A):c.3734A>G (p.Asn1245Ser) rs141268327
NM_002977.3(SCN9A):c.3799C>G (p.Leu1267Val) rs180922748
NM_002977.3(SCN9A):c.5678G>A (p.Arg1893His) rs79805025
NM_003000.2(SDHB):c.423+20T>A rs190139590
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996
NM_003165.4(STXBP1):c.1351G>A (p.Val451Ile) rs150259704
NM_003238.5(TGFB2):c.619G>C (p.Val207Leu) rs10482810
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997
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_003573.2(LTBP4):c.1328G>A (p.Gly443Asp) rs114749335
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599
NM_003688.3(CASK):c.2282G>A (p.Arg761Gln) rs137964936
NM_003730.6(RNASET2):c.643G>A (p.Glu215Lys) rs41269593
NM_003850.2(SUCLA2):c.256A>G (p.Ile86Val) rs61756204
NM_003850.2(SUCLA2):c.811A>G (p.Met271Val) rs142020748
NM_004035.7(ACOX1):c.80C>T (p.Pro27Leu) rs145082938
NM_004046.6(ATP5F1A):c.25G>A (p.Ala9Thr) rs141639003
NM_004153.4(ORC1):c.57G>C (p.Arg19Ser) rs3087473
NM_004278.4(PIGL):c.424C>A (p.Leu142Met) rs115958467
NM_004281.3(BAG3):c.280A>T (p.Ile94Phe) rs145393807
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787
NM_004366.6(CLCN2):c.143C>G (p.Pro48Arg) rs115661422
NM_004366.6(CLCN2):c.203G>A (p.Arg68His) rs61729156
NM_004366.6(CLCN2):c.2173C>T (p.Arg725Trp) rs114702742
NM_004369.3(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) rs28935498
NM_004484.3(GPC3):c.826G>A (p.Gly276Ser) rs141100113
NM_004525.3(LRP2):c.10403C>T (p.Pro3468Leu) rs143367996
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met) rs34355135
NM_004525.3(LRP2):c.13610A>C (p.Gln4537Pro) rs188918037
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser) rs114460450
NM_004525.3(LRP2):c.5293G>A (p.Val1765Met) rs116456291
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu) rs41277835
NM_004589.4(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_004667.5(HERC2):c.10969G>A (p.Val3657Ile) rs139953376
NM_004836.7(EIF2AK3):c.2014G>A (p.Glu672Lys) rs35226268
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser) rs148935720
NM_004895.4(NLRP3):c.598G>A (p.Val200Met) rs121908147
NM_004992.3(MECP2):c.1160C>T (p.Pro387Leu) rs63390262
NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) rs56268439
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.6343G>A (p.Gly2115Ser) rs116716038
NM_005120.3(MED12):c.1248+15T>C rs187377817
NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn) rs759532414
NM_005120.3(MED12):c.6309_6314ACAGCA[3] (p.Gln2114_Gln2115dup) rs764789036
NM_005199.5(CHRNG):c.1516C>T (p.Pro506Ser) rs71421651
NM_005257.5(GATA6):c.1723G>C (p.Ala575Pro) rs149569288
NM_005327.5(HADH):c.275T>G (p.Phe92Cys) rs61735992
NM_005450.5(NOG):c.275G>A (p.Gly92Glu) rs199566527
NM_005518.3(HMGCS2):c.1124C>G (p.Ser375Cys) rs151328418
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala) rs41279055
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069
NM_005633.3(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860
NM_005763.4(AASS):c.1678C>T (p.Pro560Ser) rs74882337
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu) rs34227834
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222
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.3250G>C (p.Glu1084Gln) rs146221263
NM_006059.4(LAMC3):c.3379G>A (p.Glu1127Lys) rs140955110
NM_006231.3(POLE):c.776G>A (p.Arg259His) rs61732929
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val) rs142768885
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln) rs142032474
NM_006302.3(MOGS):c.881C>T (p.Pro294Leu) rs184209905
NM_006348.3(COG5):c.1355A>G (p.His452Arg) rs35393416
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser) rs73113975
NM_006493.2(CLN5):c.49G>C (p.Gly17Arg) rs202118652
NM_006493.2(CLN5):c.61C>T (p.Pro21Ser) rs200353554
NM_006514.3(SCN10A):c.3674T>C (p.Ile1225Thr) rs139638446
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu) rs145061343
NM_006702.5(PNPLA6):c.3964G>A (p.Gly1322Ser) rs145178162
NM_006846.3(SPINK5):c.802C>T (p.Arg268Cys) rs142558269
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val) rs146253630
NM_007130.3(ZNF41):c.332C>T (p.Pro111Leu) rs104894955
NM_007137.3(ZNF81):c.1495A>G (p.Ile499Val) rs182239885
NM_007171.3(POMT1):c.1611C>G (p.Ser537Arg) rs150367385
NM_007171.3(POMT1):c.1764C>T (p.Ser588=) rs150814269
NM_007208.4(MRPL3):c.931G>A (p.Gly311Ser) rs148679749
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr) rs151086692
NM_012188.5(FOXI1):c.308G>C (p.Gly103Ala) rs370450076
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_013227.3(ACAN):c.7075G>A (p.Val2359Ile) rs150555123
NM_013266.4(CTNNA3):c.1900G>A (p.Glu634Lys) rs77165728
NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys) rs143790434
NM_014008.5(CCDC22):c.1636G>A (p.Asp546Asn) rs147222955
NM_014254.3(RXYLT1):c.275C>T (p.Thr92Met) rs73122634
NM_014324.6(AMACR):c.554T>C (p.Val185Ala) rs145786819
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469
NM_014467.3(SRPX2):c.460C>G (p.His154Asp) rs73636611
NM_014795.4(ZEB2):c.10C>G (p.Pro4Ala) rs146394306
NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met) rs143438888
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904
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.2191C>G (p.Pro731Ala) rs61755434
NM_015243.2(VPS13B):c.1559A>G (p.His520Arg) rs143205296
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510
NM_015311.3(OBSL1):c.3950T>A (p.Leu1317Gln) rs115283876
NM_015386.3(COG4):c.1759C>A (p.Gln587Lys) rs113455884
NM_015548.5(DST):c.3319-3641T>C rs141573097
NM_015570.4(AUTS2):c.3377_3379ACC[9] (p.His1133dup) rs538005366
NM_015697.8(COQ2):c.344A>C (p.Asp115Ala) rs375934957
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile) rs150539399
NM_016219.5(MAN1B1):c.1429G>A (p.Gly477Arg) rs75639549
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg) rs138658585
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His) rs114057640
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896
NM_016579.4(CD320):c.256_258GAG[2] (p.Glu88del) rs150384171
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val) rs147376000
NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln) rs34161789
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391
NM_017721.5(CC2D1A):c.2440G>T (p.Ala814Ser) rs56359259
NM_017721.5(CC2D1A):c.905G>A (p.Arg302Gln) rs73922801
NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile) rs112951498
NM_017755.6(NSUN2):c.2300G>A (p.Arg767Gln) rs140673211
NM_017777.3(MKS1):c.1388G>A (p.Arg463Gln) rs201619500
NM_017777.3(MKS1):c.213C>G (p.Asp71Glu) rs142813109
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638
NM_017780.4(CHD7):c.4534-13T>G rs114996731
NM_017890.4(VPS13B):c.10124C>T (p.Thr3375Ile) rs138127778
NM_017890.4(VPS13B):c.2596G>A (p.Val866Ile) rs150185067
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.728C>T (p.Ala243Val) rs149153003
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379
NM_018100.4(EFHC1):c.662G>A (p.Arg221His) rs79761183
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.5741A>G (p.Gln1914Arg) rs113325473
NM_018328.4(MBD5):c.3044A>G (p.Gln1015Arg) rs143028540
NM_018714.3(COG1):c.2620-10T>G rs144989249
NM_018714.3(COG1):c.401C>T (p.Ser134Leu) rs146066919
NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro) rs146970674
NM_020442.5(VARS2):c.2293G>A (p.Val765Met) rs55865499
NM_020686.6(ABAT):c.603+3G>A rs41312254
NM_020717.3(SHROOM4):c.436C>T (p.Arg146Trp) rs189694750
NM_020745.4(AARS2):c.1196A>G (p.Asn399Ser) rs113433939
NM_020964.3(EPG5):c.4039A>C (p.Asn1347His) rs144860976
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011
NM_021120.4(DLG3):c.1405+5_1405+7del rs797045525
NM_022041.3(GAN):c.1684C>G (p.Pro562Ala) rs79901179
NM_022095.4(ZNF335):c.1963C>T (p.Pro655Ser) rs117132825
NM_022369.4(STRA6):c.1771G>A (p.Ala591Thr) rs115331762
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile) rs115800498
NM_023073.3(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln) rs147632811
NM_024589.2(ROGDI):c.713G>A (p.Arg238His) rs138409264
NM_024592.5(SRD5A3):c.925C>G (p.His309Asp) rs61733673
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725
NM_024996.5(GFM1):c.568A>C (p.Met190Leu) rs75450876
NM_025000.4(DCAF17):c.127-15C>A rs146556466
NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT rs745522483
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165
NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly) rs75430389
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327
NM_025265.4(TSEN2):c.272-4C>G rs41293385
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_031466.7(TRAPPC9):c.3091G>A (p.Gly1031Ser) rs114949291
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750
NM_032382.4(COG8):c.1591C>T (p.Pro531Ser) rs76253513
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser) rs7196345
NM_032578.3(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730
NM_032634.4(PIGO):c.461C>A (p.Ala154Asp) rs142562923
NM_032977.3(CASP10):c.1216A>T (p.Ile406Leu) rs80358239
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362
NM_033084.5(FANCD2):c.3446C>T (p.Ala1149Val) rs147675860
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala) rs180849348
NM_052865.4(MGME1):c.794C>T (p.Thr265Ile) rs76599088
NM_054012.4(ASS1):c.106-10T>G rs73541957
NM_080679.2(COL11A2):c.1696-5T>G rs200523422
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374
NM_139242.4(MTFMT):c.16C>T (p.Arg6Trp) rs199599204
NM_144966.5(FREM1):c.2169+11A>C rs377670533
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met) rs62073570
NM_147127.4(EVC2):c.1711-11_1711-10dupTT rs35103377
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152419.3(HGSNAT):c.234+14C>G rs146429523
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943
NM_153609.3(TMPRSS6):c.2132G>T (p.Arg711Leu) rs115310908
NM_153704.5(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698
NM_153818.1(PEX10):c.745G>C (p.Val249Leu) rs139345520
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr) rs34989098
NM_177986.5(DSG4):c.1568C>T (p.Pro523Leu) rs34620697
NM_182914.2(SYNE2):c.20161G>A (p.Ala6721Thr) rs140897155
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724
NM_212550.4(BLOC1S3):c.478G>T (p.Val160Leu) rs201502372

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