ClinVar Miner

Variants with conflicting interpretations "likely benign" from Genome-Nilou Lab and "benign" from 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:
ClinVar version:
Total variants with conflicting interpretations: 127
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HGVS dbSNP gnomAD frequency
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_014049.5(ACAD9):c.-44_-41dup rs387906242 0.04863
NM_130849.4(SLC39A4):c.63G>C (p.Thr21=) rs13251676 0.04058
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_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp) rs56038610 0.01377
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_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_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_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_000271.5(NPC1):c.2661G>A (p.Pro887=) rs9949660 0.00711
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_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_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_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
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_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_000359.3(TGM1):c.365C>T (p.Ser122Leu) rs141486741 0.00492
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_000243.3(MEFV):c.1759+8C>T rs77380520 0.00321
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
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_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584 0.00275
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066 0.00259
NM_000243.3(MEFV):c.1587+18C>T rs11466030 0.00248
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_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.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_000199.5(SGSH):c.1283G>A (p.Arg428His) rs144862290 0.00186
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_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254 0.00158
NM_006623.4(PHGDH):c.624T>C (p.Pro208=) rs77401816 0.00154
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=) rs41307518 0.00149
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
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_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446 0.00132
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_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr) rs141463026 0.00098
NM_002529.4(NTRK1):c.1080G>A (p.Thr360=) rs2274498 0.00095
NM_001370658.1(BTD):c.1041C>T (p.Gly347=) rs142421934 0.00086
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
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_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_006623.4(PHGDH):c.985A>T (p.Thr329Ser) rs201298102 0.00064
NM_206933.4(USH2A):c.4758+3A>G rs117798425 0.00056
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_000035.4(ALDOB):c.619G>C (p.Glu207Gln) rs3739721 0.00046
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_014363.6(SACS):c.3144A>G (p.Val1048=) rs3751369 0.00035
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250 0.00031
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser) rs143815159 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_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=) rs141110958 0.00016
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu) rs75783492 0.00016
NM_182760.4(SUMF1):c.606G>A (p.Pro202=) rs141957829 0.00016
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys) rs200761715 0.00012
NM_006493.4(CLN5):c.1026A>G (p.Thr342=) rs200637649 0.00011
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_006493.4(CLN5):c.-4C>T rs587780896 0.00009
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) rs141482368 0.00007
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253 0.00006
NM_206933.4(USH2A):c.1731C>T (p.Cys577=) rs41313732 0.00005
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NM_015166.4(MLC1):c.544G>A (p.Ala182Thr) rs537457768 0.00002
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606 0.00001
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000152.5(GAA):c.2647-71G>C rs4889821
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg) rs145830318
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg) rs373604102

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