ClinVar Miner

Variants with conflicting interpretations between Genome-Nilou Lab and Natera, Inc.

Minimum review status of the submission from Genome-Nilou Lab: Collection method of the submission from Genome-Nilou Lab:
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 per condition Variants with at least 2 submissions on the same condition 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 conflict
907 2674 0 298 203 0 11 512

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
pathogenic 0 4 0 0 0
likely pathogenic 129 0 7 0 0
uncertain significance 0 4 0 67 28
likely benign 0 0 97 0 127
benign 0 0 11 38 0

All variants with conflicting interpretations #

Total variants: 512
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001039958.2(MESP2):c.573G>A (p.Gly191=) rs113097169 0.13255
NM_001201543.2(FAM161A):c.1665G>A (p.Leu555=) rs6545910 0.10308
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_014049.5(ACAD9):c.-44_-41dup rs387906242 0.04863
NM_130849.4(SLC39A4):c.63G>C (p.Thr21=) rs13251676 0.04058
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys) rs36024592 0.02382
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr) rs111033266 0.02380
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu) rs111033381 0.01895
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val) rs11568438 0.01617
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) rs61749202 0.01463
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr) rs41303285 0.01316
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230 0.01207
NM_006623.4(PHGDH):c.792+6T>G rs146953046 0.01118
NM_012203.2(GRHPR):c.963G>A (p.Pro321=) rs76299266 0.01042
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_014363.6(SACS):c.10305T>C (p.Ser3435=) rs35670472 0.00986
NM_014363.6(SACS):c.12762C>T (p.Ser4254=) rs11554397 0.00978
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr) rs78253373 0.00962
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr) rs11807956 0.00940
NM_000310.4(PPT1):c.*3C>A rs150454815 0.00889
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg) rs77583146 0.00755
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) rs61753611 0.00740
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290 0.00735
NM_000243.3(MEFV):c.1503C>T (p.Arg501=) rs76464258 0.00733
NM_001164508.2(NEB):c.2832C>T (p.Ser944=) rs114076205 0.00714
NM_000271.5(NPC1):c.2661G>A (p.Pro887=) rs9949660 0.00711
NM_014363.6(SACS):c.4117G>C (p.Ala1373Pro) rs61326562 0.00706
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324 0.00669
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00633
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895 0.00606
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328 0.00606
NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr) rs62640939 0.00591
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) rs56385601 0.00586
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_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_002529.4(NTRK1):c.1728C>T (p.Phe576=) rs6335 0.00563
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 0.00506
NM_000359.3(TGM1):c.365C>T (p.Ser122Leu) rs141486741 0.00492
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_000243.3(MEFV):c.2163C>T (p.Phe721=) rs11466047 0.00484
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg) rs73928330 0.00456
NM_014363.6(SACS):c.12597A>G (p.Pro4199=) rs112630127 0.00451
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_014363.6(SACS):c.11688G>A (p.Arg3896=) rs116791509 0.00448
NM_015166.4(MLC1):c.279G>A (p.Ser93=) rs11568172 0.00422
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=) rs111033516 0.00401
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile) rs59174500 0.00394
NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile) rs145199539 0.00372
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu) rs41308435 0.00346
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00332
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_000243.3(MEFV):c.1759+8C>T rs77380520 0.00321
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met) rs73003348 0.00315
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_000396.4(CTSK):c.675A>G (p.Arg225=) rs41271965 0.00297
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=) rs55921307 0.00295
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323 0.00287
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584 0.00275
NM_003982.4(SLC7A7):c.720A>C (p.Ser240=) rs151261004 0.00274
NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp) rs139822086 0.00273
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala) rs35238405 0.00270
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066 0.00259
NM_001126108.2(SLC12A3):c.307C>T (p.Leu103=) rs35005216 0.00257
NM_000243.3(MEFV):c.1587+18C>T rs11466030 0.00248
NM_001365088.1(SLC12A6):c.3042+8A>G rs186141509 0.00245
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=) rs146994147 0.00245
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_000359.3(TGM1):c.429C>T (p.Arg143=) rs144989372 0.00239
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968 0.00237
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
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_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608 0.00227
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599 0.00218
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile) rs74360232 0.00215
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555 0.00209
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_000349.3(STAR):c.361C>T (p.Arg121Trp) rs34908868 0.00193
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695 0.00187
NM_000199.5(SGSH):c.1283G>A (p.Arg428His) rs144862290 0.00186
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys) rs111033255 0.00183
NM_032520.5(GNPTG):c.741+5C>T rs201263537 0.00183
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_014363.6(SACS):c.10274A>G (p.Lys3425Arg) rs147317123 0.00168
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106 0.00158
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254 0.00158
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) rs142679083 0.00157
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_006623.4(PHGDH):c.624T>C (p.Pro208=) rs77401816 0.00154
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482 0.00151
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=) rs41307518 0.00149
NM_001126108.2(SLC12A3):c.1392C>A (p.Ala464=) rs118121751 0.00146
NM_001126108.2(SLC12A3):c.2190C>T (p.Leu730=) rs150692587 0.00146
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00146
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_001126108.2(SLC12A3):c.93C>T (p.Pro31=) rs34055681 0.00143
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp) rs143002265 0.00139
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_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_006623.4(PHGDH):c.510+6A>G rs371736796 0.00133
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446 0.00132
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr) rs111920492 0.00131
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=) rs143218330 0.00118
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938 0.00113
NM_015166.4(MLC1):c.628G>A (p.Val210Ile) rs11568178 0.00110
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137 0.00100
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_000126.4(ETFA):c.826A>C (p.Ile276Leu) rs141200145 0.00096
NM_002529.4(NTRK1):c.1080G>A (p.Thr360=) rs2274498 0.00095
NM_000016.6(ACADM):c.994C>T (p.Leu332=) rs138098371 0.00093
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser) rs200164758 0.00088
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_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=) rs143318498 0.00077
NM_015166.4(MLC1):c.627C>T (p.Ala209=) rs138153307 0.00071
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351 0.00064
NM_006623.4(PHGDH):c.985A>T (p.Thr329Ser) rs201298102 0.00064
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869 0.00061
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955 0.00060
NM_003060.4(SLC22A5):c.414C>T (p.Asp138=) rs150705788 0.00059
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862 0.00053
NM_206933.4(USH2A):c.10741-8G>A rs369968349 0.00051
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342 0.00050
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_014363.6(SACS):c.10443C>G (p.Leu3481=) rs144087359 0.00047
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln) rs3739721 0.00046
NM_000359.3(TGM1):c.383A>G (p.Glu128Gly) rs138592626 0.00046
NM_000709.4(BCKDHA):c.288C>T (p.His96=) rs148571328 0.00043
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825 0.00043
NM_032520.5(GNPTG):c.741+6G>A rs371060844 0.00043
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449 0.00041
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser) rs201071654 0.00040
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245 0.00038
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610 0.00038
NM_206933.4(USH2A):c.6930G>A (p.Thr2310=) rs146406377 0.00038
NM_000033.4(ABCD1):c.945G>A (p.Ser315=) rs145545199 0.00037
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048 0.00036
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=) rs150892928 0.00035
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_014363.6(SACS):c.3144A>G (p.Val1048=) rs3751369 0.00035
NM_000243.3(MEFV):c.1344A>C (p.Ala448=) rs143337771 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile) rs151201945 0.00033
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) rs145272777 0.00033
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr) rs190617851 0.00032
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079 0.00031
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250 0.00031
NM_006623.4(PHGDH):c.296C>G (p.Pro99Arg) rs182600362 0.00030
NM_000243.3(MEFV):c.1827C>G (p.Pro609=) rs104895135 0.00029
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser) rs143815159 0.00029
NM_000642.3(AGL):c.82+4A>C rs765098686 0.00029
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181 0.00029
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu) rs150597050 0.00029
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr) rs782134465 0.00028
NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=) rs145775351 0.00028
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_004646.4(NPHS1):c.1610C>T (p.Thr537Met) rs368913905 0.00027
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738 0.00026
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr) rs141723617 0.00026
NM_206933.4(USH2A):c.10374G>A (p.Thr3458=) rs137963595 0.00026
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641 0.00025
NM_000709.4(BCKDHA):c.744C>T (p.Ala248=) rs137960127 0.00024
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770 0.00023
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598 0.00023
NM_001365088.1(SLC12A6):c.1012C>T (p.Arg338Cys) rs77122016 0.00023
NM_032520.5(GNPTG):c.67G>C (p.Gly23Arg) rs547624231 0.00022
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala) rs145392789 0.00022
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311 0.00021
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp) rs104895210 0.00021
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912 0.00021
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=) rs147930567 0.00021
NM_014363.6(SACS):c.7200T>C (p.Phe2400=) rs148544893 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_001126108.2(SLC12A3):c.81C>G (p.Ser27Arg) rs201850644 0.00019
NM_002485.5(NBN):c.37+6G>A rs540868733 0.00019
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00018
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255 0.00018
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482 0.00018
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110 0.00017
NM_014363.6(SACS):c.11928T>C (p.Ser3976=) rs145680118 0.00017
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=) rs141110958 0.00016
NM_000520.6(HEXA):c.582G>A (p.Ala194=) rs112614306 0.00016
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu) rs75783492 0.00016
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe) rs145419141 0.00016
NM_182760.4(SUMF1):c.606G>A (p.Pro202=) rs141957829 0.00016
NM_206933.4(USH2A):c.12399G>A (p.Glu4133=) rs150406015 0.00016
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000 0.00016
NM_000033.4(ABCD1):c.901-5C>T rs782603062 0.00015
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val) rs149486847 0.00014
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg) rs112739451 0.00014
NM_001126108.2(SLC12A3):c.1968G>A (p.Pro656=) rs150378634 0.00014
NM_001365088.1(SLC12A6):c.2565G>A (p.Thr855=) rs201062811 0.00013
NM_002485.5(NBN):c.1124+6G>T rs375862750 0.00013
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala) rs199649563 0.00012
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn) rs764274816 0.00011
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn) rs756322372 0.00011
NM_000243.3(MEFV):c.1522C>G (p.Leu508Val) rs199937453 0.00011
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576 0.00011
NM_002485.5(NBN):c.1914+10G>A rs577706448 0.00011
NM_002485.5(NBN):c.37+10G>C rs369408590 0.00011
NM_006493.4(CLN5):c.1026A>G (p.Thr342=) rs200637649 0.00011
NM_206933.4(USH2A):c.10059G>A (p.Pro3353=) rs147842359 0.00011
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met) rs139065588 0.00011
NM_206933.4(USH2A):c.1935A>T (p.Thr645=) rs146670690 0.00011
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His) rs775471043 0.00010
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu) rs201438531 0.00010
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716 0.00009
NM_000360.4(TH):c.51C>T (p.Ala17=) rs199645400 0.00009
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_000642.3(AGL):c.1602C>T (p.His534=) rs563472929 0.00009
NM_002529.4(NTRK1):c.659G>A (p.Arg220Gln) rs540751200 0.00009
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys) rs60376624 0.00009
NM_006493.4(CLN5):c.-4C>T rs587780896 0.00009
NM_006623.4(PHGDH):c.422C>T (p.Thr141Ile) rs200037593 0.00009
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile) rs117934093 0.00009
NM_206933.4(USH2A):c.2167+5G>A rs771583281 0.00009
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) rs2229224 0.00008
NM_000246.4(CIITA):c.2384G>A (p.Arg795Gln) rs553503699 0.00008
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr) rs762780994 0.00008
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) rs141482368 0.00007
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_001365088.1(SLC12A6):c.21C>T (p.Thr7=) rs146902000 0.00007
NM_000022.4(ADA):c.375C>G (p.Thr125=) rs766539394 0.00006
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511 0.00006
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) rs376787615 0.00006
NM_000243.3(MEFV):c.866C>T (p.Ala289Val) rs104895132 0.00006
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_000642.3(AGL):c.609A>G (p.Lys203=) rs186709388 0.00006
NM_003060.4(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521 0.00006
NM_006623.4(PHGDH):c.1255G>A (p.Gly419Arg) rs145344767 0.00006
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met) rs121907987 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_206933.4(USH2A):c.12597T>C (p.Ala4199=) rs202172029 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_206933.4(USH2A):c.7227T>C (p.Thr2409=) rs141917231 0.00006
NM_000152.5(GAA):c.2418G>A (p.Thr806=) rs371528938 0.00005
NM_000243.3(MEFV):c.2337G>C (p.Gly779=) rs104895153 0.00005
NM_000441.2(SLC26A4):c.165-1G>A rs759792660 0.00005
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307 0.00005
NM_000642.3(AGL):c.261A>G (p.Gln87=) rs370304606 0.00005
NM_001126108.2(SLC12A3):c.2082C>T (p.Asn694=) rs370145822 0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727 0.00005
NM_206933.4(USH2A):c.1731C>T (p.Cys577=) rs41313732 0.00005
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989 0.00005
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00004
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val) rs144270019 0.00004
NM_000243.3(MEFV):c.2109C>T (p.Ser703=) rs104895118 0.00004
NM_000243.3(MEFV):c.775A>G (p.Ile259Val) rs104895144 0.00004
NM_000481.4(AMT):c.280C>T (p.Arg94Trp) rs1126422 0.00004
NM_014363.6(SACS):c.1224C>T (p.Asp408=) rs2274386 0.00004
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg) rs376680832 0.00004
NM_206933.4(USH2A):c.486-14G>A rs374536346 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg) rs111033280 0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872 0.00003
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu) rs776668666 0.00003
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718 0.00003
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916 0.00003
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639 0.00003
NM_000243.3(MEFV):c.1179C>T (p.Pro393=) rs104895082 0.00003
NM_000243.3(MEFV):c.1758T>C (p.Asn586=) rs202228332 0.00003
NM_000243.3(MEFV):c.2123G>A (p.Arg708His) rs200375017 0.00003
NM_000243.3(MEFV):c.2164G>A (p.Val722Met) rs104895201 0.00003
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val) rs104895194 0.00003
NM_000243.3(MEFV):c.456G>A (p.Gly152=) rs368333568 0.00003
NM_000243.3(MEFV):c.539C>T (p.Pro180Leu) rs104895134 0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu) rs150726932 0.00003
NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=) rs746514019 0.00003
NM_000709.4(BCKDHA):c.330A>T (p.Thr110=) rs201366184 0.00003
NM_001126108.2(SLC12A3):c.539C>A (p.Thr180Lys) rs146158333 0.00003
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=) rs199603690 0.00003
NM_003982.4(SLC7A7):c.1402C>T (p.Arg468Ter) rs386833807 0.00003
NM_014363.6(SACS):c.7497C>T (p.Val2499=) rs774558627 0.00003
NM_015506.3(MMACHC):c.495G>A (p.Leu165=) rs761111018 0.00003
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) rs397517963 0.00003
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg) rs1342455785 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491 0.00003
NM_206933.4(USH2A):c.9571-2A>G rs751111524 0.00003
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719 0.00002
NM_000048.4(ASL):c.243G>C (p.Leu81=) rs774204716 0.00002
NM_000049.4(ASPA):c.237-2A>T rs780936696 0.00002
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612 0.00002
NM_000243.3(MEFV):c.1061G>A (p.Arg354Gln) rs763015849 0.00002
NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu) rs976279218 0.00002
NM_000359.3(TGM1):c.1223_1227del (p.Asp408fs) rs398122905 0.00002
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg) rs121918725 0.00002
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) rs147952620 0.00002
NM_000441.2(SLC26A4):c.55del (p.Ser19fs) rs1057516634 0.00002
NM_000489.6(ATRX):c.3387G>A (p.Leu1129=) rs3761507 0.00002
NM_002485.5(NBN):c.254A>G (p.Asn85Ser) rs587780095 0.00002
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=) rs386833990 0.00002
NM_015166.4(MLC1):c.544G>A (p.Ala182Thr) rs537457768 0.00002
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=) rs375603741 0.00002
NM_206933.4(USH2A):c.11048-2A>G rs200871041 0.00002
NM_206933.4(USH2A):c.12295-2A>G rs151148854 0.00002
NM_000018.4(ACADVL):c.1575C>A (p.Val525=) rs745996278 0.00001
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725 0.00001
NM_000022.4(ADA):c.467G>A (p.Arg156His) rs121908722 0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292 0.00001
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215 0.00001
NM_000046.5(ARSB):c.430G>A (p.Gly144Arg) rs746206847 0.00001
NM_000049.4(ASPA):c.503G>A (p.Arg168His) rs770706390 0.00001
NM_000049.4(ASPA):c.807G>A (p.Thr269=) rs759106494 0.00001
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp) rs797045402 0.00001
NM_000053.4(ATP7B):c.2712A>G (p.Glu904=) rs146232015 0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547 0.00001
NM_000053.4(ATP7B):c.3557-8C>T rs765668065 0.00001
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe) rs769484789 0.00001
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352 0.00001
NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp) rs779494870 0.00001
NM_000152.5(GAA):c.1410C>T (p.Asn470=) rs886043068 0.00001
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394 0.00001
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869 0.00001
NM_000199.5(SGSH):c.1166A>G (p.Asn389Ser) rs1555620214 0.00001
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641 0.00001
NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys) rs104895101 0.00001
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn) rs550970304 0.00001
NM_000243.3(MEFV):c.1899G>A (p.Pro633=) rs776315170 0.00001
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met) rs104895102 0.00001
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val) rs104895163 0.00001
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr) rs104895154 0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val) rs104895076 0.00001
NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys) rs543521135 0.00001
NM_000359.3(TGM1):c.1744C>T (p.Gln582Ter) rs397514522 0.00001
NM_000359.3(TGM1):c.424C>T (p.Arg142Cys) rs121918716 0.00001
NM_000359.3(TGM1):c.428G>A (p.Arg143His) rs121918719 0.00001
NM_000359.3(TGM1):c.579G>A (p.Trp193Ter) rs199678720 0.00001
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp) rs201868387 0.00001
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=) rs727504993 0.00001
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474 0.00001
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter) rs397516416 0.00001
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) rs539699299 0.00001
NM_000441.2(SLC26A4):c.918+2T>C rs912147281 0.00001
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=) rs1009877821 0.00001
NM_000478.6(ALPL):c.283G>A (p.Val95Met) rs139811782 0.00001
NM_000487.6(ARSA):c.279C>T (p.Val93=) rs756760904 0.00001
NM_000492.4(CFTR):c.164+12T>C rs121908790 0.00001
NM_000528.4(MAN2B1):c.2437-5C>G rs200695002 0.00001
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=) rs139218045 0.00001
NM_000642.3(AGL):c.664+3A>G rs370792293 0.00001
NM_000709.4(BCKDHA):c.854-2A>G rs760494152 0.00001
NM_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys) rs747249619 0.00001
NM_001130987.2(DYSF):c.1905C>T (p.Ile635=) rs567956595 0.00001
NM_002485.5(NBN):c.666C>T (p.Phe222=) rs876661098 0.00001
NM_002529.4(NTRK1):c.1359G>A (p.Pro453=) rs200937156 0.00001
NM_002529.4(NTRK1):c.2047-6T>C rs762866535 0.00001
NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro) rs747711259 0.00001
NM_003060.4(SLC22A5):c.1354G>A (p.Glu452Lys) rs72552734 0.00001
NM_003060.4(SLC22A5):c.1411C>T (p.Arg471Cys) rs749282641 0.00001
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr) rs727504159 0.00001
NM_003060.4(SLC22A5):c.632A>G (p.Tyr211Cys) rs121908888 0.00001
NM_006493.4(CLN5):c.935T>C (p.Phe312Ser) rs201767993 0.00001
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606 0.00001
NM_206933.4(USH2A):c.1047T>C (p.Asp349=) rs775053681 0.00001
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389 0.00001
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs) rs768161313 0.00001
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp) rs770329105 0.00001
NM_206933.4(USH2A):c.5572+1G>A rs775293551 0.00001
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724 0.00001
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134 0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041 0.00001
NM_206933.4(USH2A):c.9258+1G>A rs748810737 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NM_000022.4(ADA):c.385G>A (p.Val129Met) rs121908731
NM_000022.4(ADA):c.703C>T (p.Arg235Trp) rs778809577
NM_000023.4(SGCA):c.488dup (p.Leu164fs) rs763986788
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=) rs782250326
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys) rs4010613
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000035.4(ALDOB):c.282C>T (p.Phe94=) rs549682194
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg) rs121908001
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe) rs1286080173
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala) rs1387431334
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=) rs377267217
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) rs193922107
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000152.5(GAA):c.2647-71G>C rs4889821
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000169.3(GLA):c.525C>G (p.Asp175Glu) rs782722844
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu) rs11466024
NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys) rs1958986915
NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp) rs1567233429
NM_000243.3(MEFV):c.1459G>A (p.Val487Met) rs104895100
NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs) rs1355225244
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.342G>A (p.Lys114=) rs981883034
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu) rs777009752
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771
NM_000317.3(PTS):c.166GTG[1] (p.Val57del) rs770387277
NM_000359.3(TGM1):c.1187G>A (p.Arg396His) rs121918721
NM_000359.3(TGM1):c.802del (p.Val268fs) rs1322979131
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp) rs121918731
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter) rs74315303
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) rs786204601
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) rs786204450
NM_000441.2(SLC26A4):c.164+1del rs786204504
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs) rs786204523
NM_000441.2(SLC26A4):c.737del (p.Asn246fs) rs918684449
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) rs774698247
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=) rs1008745697
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_002485.5(NBN):c.1194A>G (p.Gln398=) rs200046373
NM_003060.4(SLC22A5):c.1412G>A (p.Arg471His) rs386134223
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.505C>T (p.Arg169Trp) rs121908890
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs) rs1057516365
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser) rs370655945
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala) rs556248979
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_015506.3(MMACHC):c.565del (p.Arg189fs) rs1257204721
NM_032520.5(GNPTG):c.11G>A (p.Gly4Glu) rs574801192
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=) rs745523374
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser) rs563705133
NM_182760.4(SUMF1):c.16C>T (p.Leu6=) rs774160105
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.4(USH2A):c.10388-2A>G rs1553261479
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter) rs988693758
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg) rs145830318
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr) rs483353054
NM_206933.4(USH2A):c.5858-1G>A rs397518023
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg) rs373604102
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter) rs1269642027
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs) rs536593247
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs) rs1388040238

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