ClinVar Miner

Variants with conflicting interpretations "benign" from Natera, Inc. and "uncertain significance" from any submitter

Minimum review status of the submission from Natera, Inc.: Collection method of the submission from Natera, Inc.:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 440
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HGVS dbSNP gnomAD frequency
NM_012203.2(GRHPR):c.579A>G (p.Ala193=) rs309458 0.85807
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) rs2301629 0.34968
NM_138413.4(HOGA1):c.912C>A (p.Ala304=) rs12261752 0.29673
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_000030.3(AGXT):c.264C>T (p.Ala88=) rs35698882 0.15328
NM_001039958.2(MESP2):c.573G>A (p.Gly191=) rs113097169 0.13255
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047 0.12652
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566 0.05947
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246 0.04972
NM_012203.2(GRHPR):c.734+9G>A rs56401536 0.04769
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444 0.04436
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_138413.4(HOGA1):c.396G>A (p.Ala132=) rs41290456 0.02716
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) rs115532916 0.02662
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961 0.02475
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) rs34885252 0.02454
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=) rs114082868 0.02057
NM_004646.4(NPHS1):c.59-5C>G rs114595892 0.01945
NM_012144.4(DNAI1):c.297A>G (p.Gln99=) rs77344166 0.01778
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195 0.01772
NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys) rs34589386 0.01503
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912 0.01476
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln) rs118174674 0.01368
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser) rs35887327 0.01309
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659 0.01279
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser) rs140578009 0.01275
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr) rs35727744 0.01194
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319 0.01071
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr) rs11466045 0.01021
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472 0.00986
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397 0.00978
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala) rs35007621 0.00961
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270 0.00929
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180 0.00920
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_000310.4(PPT1):c.*3C>A rs150454815 0.00889
NM_000243.3(MEFV):c.2118G>A (p.Pro706=) rs2234939 0.00864
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082 0.00860
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe) rs116727742 0.00819
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
NM_000237.3(LPL):c.-283G>T rs80351041 0.00790
NM_001384474.1(LOXHD1):c.2027A>G (p.Asp676Gly) rs16978578 0.00777
NM_001360.3(DHCR7):c.-195G>T rs141057811 0.00755
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg) rs77583146 0.00755
NM_000243.3(MEFV):c.1503C>T (p.Arg501=) rs76464258 0.00733
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His) rs183531840 0.00717
NM_000170.3(GLDC):c.319A>G (p.Met107Val) rs138454333 0.00707
NM_014363.6(SACS):c.6069C>T (p.Asn2023=) rs35369023 0.00706
NM_014363.6(SACS):c.5502G>C (p.Leu1834=) rs34389000 0.00705
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_005609.4(PYGM):c.1092+6dup rs368602234 0.00700
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_000784.4(CYP27A1):c.-6C>T rs199891090 0.00673
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys) rs535143891 0.00670
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324 0.00669
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314 0.00669
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705 0.00667
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_001384474.1(LOXHD1):c.3999C>T (p.Cys1333=) rs117297079 0.00657
NM_001384474.1(LOXHD1):c.274G>A (p.Val92Ile) rs115275492 0.00656
NM_001384474.1(LOXHD1):c.1431+10G>T rs57330753 0.00648
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile) rs147487242 0.00646
NM_001201543.2(FAM161A):c.1013G>A (p.Arg338Gln) rs149314387 0.00644
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_014297.5(ETHE1):c.-45G>A rs144136377 0.00621
NM_000243.3(MEFV):c.*9C>T rs11466048 0.00618
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_001360.3(DHCR7):c.1092G>A (p.Thr364=) rs35946774 0.00608
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895 0.00606
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_138694.4(PKHD1):c.2279+13T>G rs188914598 0.00572
NM_014363.6(SACS):c.10896A>G (p.Ile3632Met) rs35256065 0.00558
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) rs142404759 0.00555
NM_001875.5(CPS1):c.3029C>T (p.Thr1010Met) rs79627159 0.00546
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=) rs112463030 0.00507
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_000243.3(MEFV):c.2163C>T (p.Phe721=) rs11466047 0.00484
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=) rs140065359 0.00482
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_000027.4(AGA):c.60A>G (p.Leu20=) rs114918706 0.00453
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127 0.00451
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509 0.00448
NM_014363.6(SACS):c.10821C>A (p.Ile3607=) rs113595574 0.00447
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=) rs76750525 0.00433
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882 0.00430
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963 0.00429
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr) rs41295338 0.00428
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_000170.3(GLDC):c.2113G>A (p.Val705Met) rs147275962 0.00405
NM_001384474.1(LOXHD1):c.457C>T (p.Arg153Cys) rs112618498 0.00404
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00397
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg) rs140566084 0.00391
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=) rs6207 0.00387
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185 0.00386
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074 0.00385
NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp) rs41303495 0.00384
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn) rs141932807 0.00362
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_000091.5(COL4A3):c.4893C>T (p.Phe1631=) rs183218622 0.00344
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00340
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) rs111033228 0.00336
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193 0.00333
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00315
NM_001384474.1(LOXHD1):c.6270G>A (p.Arg2090=) rs367833904 0.00315
NM_138694.4(PKHD1):c.2715+7del rs551015414 0.00313
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_000128.4(F11):c.1304+12G>A rs116667976 0.00295
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_153676.4(USH1C):c.381G>T (p.Gly127=) rs41282942 0.00290
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_024649.5(BBS1):c.831-5C>T rs56177555 0.00285
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His) rs142905621 0.00275
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213 0.00275
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe) rs192027050 0.00262
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu) rs201251634 0.00261
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_000260.4(MYO7A):c.1554+8G>A rs111033227 0.00249
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=) rs75398993 0.00245
NM_000098.3(CPT2):c.1806T>C (p.Phe602=) rs147953465 0.00245
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371 0.00245
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556 0.00243
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_002435.3(MPI):c.303C>T (p.Leu101=) rs139228075 0.00240
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971 0.00237
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577 0.00237
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968 0.00237
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro) rs78135392 0.00236
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00235
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys) rs144090917 0.00234
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633 0.00234
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_020533.3(MCOLN1):c.1272C>T (p.Ser424=) rs147754092 0.00231
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000199.5(SGSH):c.411G>A (p.Ala137=) rs142557761 0.00230
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340 0.00230
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608 0.00227
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120 0.00219
NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln) rs41303501 0.00218
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520 0.00215
NM_000170.3(GLDC):c.2487C>T (p.Ala829=) rs141806715 0.00213
NM_003227.4(TFR2):c.1995+9G>C rs41295921 0.00213
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555 0.00209
NM_000170.3(GLDC):c.1156-7C>G rs150095531 0.00208
NM_206933.4(USH2A):c.879T>G (p.Leu293=) rs3767698 0.00201
NM_000170.3(GLDC):c.2683A>G (p.Met895Val) rs141152043 0.00200
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014 0.00190
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255 0.00190
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg) rs139054881 0.00188
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys) rs185863881 0.00187
NM_003227.4(TFR2):c.2278G>A (p.Gly760Arg) rs144665594 0.00184
NM_032520.5(GNPTG):c.741+5C>T rs201263537 0.00183
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly) rs141093638 0.00181
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349 0.00178
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186 0.00175
NM_153676.4(USH1C):c.674+4G>A rs202095395 0.00170
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_013339.4(ALG6):c.1398A>T (p.Leu466=) rs140158304 0.00167
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00165
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106 0.00158
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) rs142679083 0.00157
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564 0.00150
NM_001164508.2(NEB):c.12770G>A (p.Arg4257His) rs576918934 0.00147
NM_004035.7(ACOX1):c.1368C>T (p.Asn456=) rs151255626 0.00147
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_000359.3(TGM1):c.1298+9G>A rs201015655 0.00140
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys) rs145062583 0.00139
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144 0.00138
NM_172250.3(MMAA):c.102C>T (p.Leu34=) rs146372922 0.00135
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_000080.4(CHRNE):c.1416C>T (p.Leu472=) rs145456588 0.00133
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00133
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446 0.00132
NM_000246.4(CIITA):c.1461C>G (p.Ile487Met) rs141202424 0.00124
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=) rs201825451 0.00123
NM_003227.4(TFR2):c.2172A>G (p.Pro724=) rs141140309 0.00121
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_020533.3(MCOLN1):c.1000A>G (p.Met334Val) rs141240937 0.00119
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735 0.00119
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787 0.00116
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322 0.00114
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938 0.00113
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496 0.00111
NM_015166.4(MLC1):c.628G>A (p.Val210Ile) rs11568178 0.00110
NM_000492.4(CFTR):c.2620-26A>G rs201716473 0.00108
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756 0.00107
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563 0.00106
NM_001399.5(EDA):c.458G>A (p.Arg153His) rs140642493 0.00106
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg) rs146668962 0.00104
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_001042432.2(CLN3):c.768C>T (p.Thr256=) rs145967477 0.00103
NM_003227.4(TFR2):c.473+8T>A rs148902192 0.00103
NM_003227.4(TFR2):c.727-9T>A rs200816061 0.00103
NM_033305.3(VPS13A):c.5292G>T (p.Leu1764=) rs141528779 0.00103
NM_001384474.1(LOXHD1):c.6099C>T (p.Asn2033=) rs146200756 0.00101
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu) rs151275800 0.00101
NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly) rs147190807 0.00099
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939 0.00098
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr) rs141463026 0.00098
NM_130849.4(SLC39A4):c.257C>T (p.Pro86Leu) rs187080747 0.00098
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_000237.3(LPL):c.345A>C (p.Ser115=) rs147309575 0.00088
NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val) rs35486059 0.00087
NM_000198.4(HSD3B2):c.621C>T (p.Asn207=) rs143758913 0.00087
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys) rs35885472 0.00086
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934 0.00086
NM_000396.4(CTSK):c.-1-9C>T rs200480574 0.00083
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167 0.00078
NM_012203.2(GRHPR):c.801A>C (p.Gly267=) rs141800325 0.00078
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199 0.00077
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=) rs143318498 0.00077
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His) rs186476316 0.00076
NM_025215.6(PUS1):c.1008G>A (p.Glu336=) rs145430883 0.00076
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) rs146030669 0.00074
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln) rs148468627 0.00074
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438 0.00074
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706 0.00073
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021 0.00073
NM_000481.4(AMT):c.354G>A (p.Leu118=) rs145194293 0.00072
NM_015166.4(MLC1):c.627C>T (p.Ala209=) rs138153307 0.00071
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695 0.00067
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His) rs140621260 0.00066
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610 0.00065
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659 0.00065
NM_031885.5(BBS2):c.126T>G (p.Ile42Met) rs139945733 0.00061
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser) rs200204857 0.00061
NM_005726.6(TSFM):c.760C>T (p.Arg254Cys) rs200132571 0.00060
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=) rs146115467 0.00058
NM_000531.6(OTC):c.298+5G>C rs72554348 0.00058
NM_005609.4(PYGM):c.182G>A (p.Arg61His) rs145514333 0.00058
NM_024312.5(GNPTAB):c.174C>T (p.Asp58=) rs148948607 0.00058
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731 0.00058
NM_000094.4(COL7A1):c.8504G>A (p.Arg2835His) rs139014122 0.00057
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu) rs201578201 0.00054
NM_201525.4(ADGRG1):c.612C>T (p.Pro204=) rs147495708 0.00053
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=) rs148335285 0.00052
NM_006623.4(PHGDH):c.834C>A (p.Val278=) rs147866831 0.00051
NM_000520.6(HEXA):c.-4G>A rs766510036 0.00050
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met) rs150783688 0.00050
NM_001164508.2(NEB):c.20032C>T (p.Arg6678Cys) rs200239095 0.00049
NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=) rs142199602 0.00048
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
NM_000274.4(OAT):c.1015-6A>G rs561800688 0.00046
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu) rs114849139 0.00044
NM_000246.4(CIITA):c.1518G>A (p.Ala506=) rs201215476 0.00043
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825 0.00043
NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln) rs566641514 0.00041
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449 0.00041
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=) rs150905331 0.00040
NM_130849.4(SLC39A4):c.390C>T (p.Leu130=) rs782454483 0.00039
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245 0.00038
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_014363.6(SACS):c.3144A>G (p.Val1048=) rs3751369 0.00035
NM_000441.2(SLC26A4):c.1614+7A>G rs199643344 0.00034
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164 0.00034
NM_000246.4(CIITA):c.1926C>T (p.Val642=) rs138376967 0.00033
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_000092.5(COL4A4):c.541G>T (p.Ala181Ser) rs200707549 0.00030
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018 0.00030
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser) rs143815159 0.00029
NM_001126108.2(SLC12A3):c.1825+5G>A rs368509876 0.00029
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=) rs145825654 0.00029
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu) rs150597050 0.00029
NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser) rs146372677 0.00029
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro) rs563417983 0.00028
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00028
NM_001386140.1(MTTP):c.111G>A (p.Thr37=) rs147921439 0.00028
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_000092.5(COL4A4):c.1435G>C (p.Gly479Arg) rs202210475 0.00026
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr) rs141723617 0.00026
NM_002225.5(IVD):c.400A>G (p.Ile134Val) rs151118565 0.00026
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met) rs199621305 0.00025
NM_001360.3(DHCR7):c.987C>T (p.Pro329=) rs145901607 0.00024
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) rs141324814 0.00024
NM_000360.4(TH):c.1368C>T (p.Ser456=) rs45538536 0.00023
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val) rs116617171 0.00023
NM_001384474.1(LOXHD1):c.1970+9G>A rs532438706 0.00022
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568 0.00022
NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile) rs143877538 0.00019
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr) rs200569046 0.00018
NM_000360.4(TH):c.679G>A (p.Glu227Lys) rs536382000 0.00017
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291 0.00017
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu) rs75783492 0.00016
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp) rs190548494 0.00016
NM_014244.5(ADAMTS2):c.798C>T (p.Tyr266=) rs139249329 0.00016
NM_152564.5(VPS13B):c.4551C>G (p.Arg1517=) rs150376603 0.00016
NM_182760.4(SUMF1):c.606G>A (p.Pro202=) rs141957829 0.00016
NM_000019.4(ACAT1):c.858G>A (p.Leu286=) rs143892373 0.00014
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val) rs149486847 0.00014
NM_000246.4(CIITA):c.1047T>C (p.Tyr349=) rs144735718 0.00014
NM_000532.5(PCCB):c.654+3A>C rs199886085 0.00014
NM_052845.4(MMAB):c.444G>A (p.Gly148=) rs117269384 0.00014
NM_000091.5(COL4A3):c.688-8G>T rs748843785 0.00013
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp) rs34258482 0.00013
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser) rs576577339 0.00013
NM_000246.4(CIITA):c.772+8C>T rs557455283 0.00012
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=) rs587783806 0.00011
NM_006493.4(CLN5):c.1026A>G (p.Thr342=) rs200637649 0.00011
NM_000094.4(COL7A1):c.4118C>T (p.Ser1373Leu) rs140403507 0.00010
NM_000303.3(PMM2):c.441C>T (p.Leu147=) rs146990448 0.00010
NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu) rs557813179 0.00010
NM_001875.5(CPS1):c.186C>T (p.Gly62=) rs529836556 0.00010
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=) rs147259971 0.00010
NM_000094.4(COL7A1):c.7674C>T (p.Asp2558=) rs201140493 0.00009
NM_003227.4(TFR2):c.2367G>A (p.Ala789=) rs374766778 0.00009
NM_006493.4(CLN5):c.-4C>T rs587780896 0.00009
NM_033305.3(VPS13A):c.2922C>T (p.Pro974=) rs373768055 0.00009
NM_130849.4(SLC39A4):c.646G>A (p.Glu216Lys) rs200524049 0.00009
NM_000080.4(CHRNE):c.6A>G (p.Ala2=) rs202198207 0.00008
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln) rs138961848 0.00008
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu) rs150047440 0.00007
NM_000126.4(ETFA):c.442A>G (p.Ile148Val) rs199673198 0.00006
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511 0.00006
NM_000359.3(TGM1):c.550C>T (p.Pro184Ser) rs200517023 0.00006
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253 0.00006
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511 0.00006
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln) rs200276195 0.00006
NM_130849.4(SLC39A4):c.213C>T (p.Ala71=) rs577104686 0.00006
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys) rs201091083 0.00006
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr) rs146306707 0.00005
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796 0.00005
NM_033305.3(VPS13A):c.963G>A (p.Val321=) rs184828562 0.00005
NM_000310.4(PPT1):c.535C>T (p.Arg179Cys) rs560471003 0.00004
NM_003640.5(ELP1):c.2026G>A (p.Gly676Ser) rs537930129 0.00004
NM_017777.4(MKS1):c.1014G>A (p.Leu338=) rs201998680 0.00004
NM_152564.5(VPS13B):c.1425+9G>A rs551460373 0.00004
NM_000159.4(GCDH):c.38G>A (p.Arg13His) rs550100640 0.00003
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys) rs142459706 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala) rs148362467 0.00003
NM_004035.7(ACOX1):c.1068C>T (p.Asn356=) rs374533122 0.00003
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met) rs547184348 0.00003
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln) rs201753421 0.00002
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His) rs771667880 0.00002
NM_000030.3(AGXT):c.537G>C (p.Leu179=) rs565927450 0.00001
NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn) rs545808060 0.00001
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136 0.00001
NM_000198.4(HSD3B2):c.308-9C>T rs375047799 0.00001
NM_000263.4(NAGLU):c.1503G>A (p.Val501=) rs537078152 0.00001
NM_000536.4(RAG2):c.1074G>A (p.Glu358=) rs557047531 0.00001
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu) rs556155962 0.00001
NM_001033855.3(DCLRE1C):c.1587A>C (p.Ser529=) rs529177486 0.00001
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly) rs746702722 0.00001
NM_003227.4(TFR2):c.1504G>A (p.Val502Ile) rs150618729 0.00001
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser) rs201767993 0.00001
NM_014297.5(ETHE1):c.-47C>T rs368890798 0.00001
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu) rs771355732 0.00001
NM_033305.3(VPS13A):c.4602T>C (p.Ser1534=) rs752134753 0.00001
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000030.3(AGXT):c.839C>T (p.Ala280Val) rs73106685
NM_000035.4(ALDOB):c.759C>T (p.Thr253=) rs146360505
NM_000080.4(CHRNE):c.1383C>G (p.Ala461=) rs570378547
NM_000094.4(COL7A1):c.3233G>A (p.Arg1078His) rs748471791
NM_000130.5(F5):c.2241AGA[2] (p.Glu750del) rs575766548
NM_000170.3(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000237.3(LPL):c.290C>T (p.Ala97Val) rs201946950
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771
NM_000303.3(PMM2):c.93C>T (p.Phe31=) rs61730638
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-11_2584-10del rs5885806
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del) rs782391479
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000528.4(MAN2B1):c.2267+8dup rs572289342
NM_001127671.2(LIFR):c.143-37GT[12] rs10637374
NM_001127671.2(LIFR):c.143-37GT[13] rs10637374
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001369.3(DNAH5):c.2578-9_2578-7del rs71600031
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_001384474.1(LOXHD1):c.1894G>T (p.Gly632Cys) rs35088381
NM_001875.5(CPS1):c.3141+15del rs577707531
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu) rs546510242
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser) rs371378288
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg) rs564280688
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_019098.5(CNGB3):c.339-10dup rs200792506
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys) rs560910758
NM_033305.3(VPS13A):c.7155+14dup rs747383490
NM_138694.4(PKHD1):c.8174-18dup rs566540835
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser) rs563705133
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del) rs549810522

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