ClinVar Miner

Variants with conflicting interpretations "likely benign" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories and "benign" from Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 135
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00782
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778 0.00758
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_194248.3(OTOF):c.98G>A (p.Arg33Gln) rs56332208 0.00731
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_080680.3(COL11A2):c.1098G>A (p.Ala366=) rs73741539 0.00672
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724 0.00598
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu) rs116307796 0.00586
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687 0.00537
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119 0.00498
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser) rs144922355 0.00496
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963 0.00481
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys) rs2230232 0.00406
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894 0.00404
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243 0.00400
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_001035.3(RYR2):c.13566C>T (p.Val4522=) rs57360419 0.00366
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262 0.00339
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00334
NM_133379.5(TTN):c.11741C>G (p.Thr3914Arg) rs116593093 0.00333
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg) rs143253411 0.00332
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_001039213.4(CEACAM16):c.738G>A (p.Thr246=) rs199779296 0.00300
NM_001267550.2(TTN):c.2765G>A (p.Arg922His) rs56046320 0.00295
NM_024422.6(DSC2):c.1264-5C>T rs183614856 0.00292
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) rs181104321 0.00282
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349 0.00279
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584 0.00275
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=) rs17850194 0.00273
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635 0.00271
NM_194248.3(OTOF):c.2215-80T>C rs143141993 0.00268
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu) rs72653095 0.00267
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556 0.00259
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890 0.00258
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) rs41281310 0.00258
NM_005548.3(KARS1):c.1674C>T (p.Leu558=) rs143267922 0.00252
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr) rs187194973 0.00252
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr) rs55660660 0.00251
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785 0.00238
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=) rs368168812 0.00235
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=) rs116604145 0.00235
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283 0.00234
NM_002471.4(MYH6):c.1275C>T (p.Ile425=) rs61742470 0.00232
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu) rs56200894 0.00231
NM_001243133.2(NLRP3):c.1920C>T (p.Phe640=) rs34698071 0.00230
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983 0.00224
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799 0.00223
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=) rs55696153 0.00223
NM_080680.3(COL11A2):c.3583-5T>C rs183536190 0.00219
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=) rs138240658 0.00209
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala) rs182491843 0.00208
NM_002471.4(MYH6):c.3979-7dup rs545343612 0.00208
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile) rs11900987 0.00205
NM_005548.3(KARS1):c.1258C>T (p.Arg420Cys) rs77573084 0.00204
NM_001267550.2(TTN):c.98439G>A (p.Val32813=) rs368487246 0.00193
NM_002471.4(MYH6):c.4320T>A (p.Ala1440=) rs145566711 0.00189
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_004086.3(COCH):c.841G>A (p.Asp281Asn) rs28362775 0.00176
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800 0.00172
NM_080680.3(COL11A2):c.329G>A (p.Arg110Gln) rs145960317 0.00168
NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr) rs142094977 0.00165
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser) rs201904226 0.00160
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254 0.00158
NM_005422.4(TECTA):c.5160C>T (p.Asp1720=) rs142657158 0.00154
NM_001035.3(RYR2):c.4596+12G>A rs148557427 0.00153
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=) rs138167675 0.00150
NM_004086.3(COCH):c.1204A>G (p.Ile402Val) rs28362778 0.00143
NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=) rs111422496 0.00140
NM_005422.4(TECTA):c.3492C>T (p.Thr1164=) rs144012985 0.00138
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln) rs142874389 0.00137
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val) rs146767076 0.00134
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser) rs116314622 0.00134
NM_001267550.2(TTN):c.58869A>G (p.Lys19623=) rs191066933 0.00132
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180 0.00128
NM_000091.5(COL4A3):c.2886C>T (p.Phe962=) rs77846212 0.00123
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808 0.00118
NM_000335.5(SCN5A):c.1236C>T (p.Val412=) rs45565936 0.00114
NM_001267550.2(TTN):c.39296-13C>T rs372380420 0.00099
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893 0.00097
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00096
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=) rs186563991 0.00091
NM_001267550.2(TTN):c.41010T>C (p.Asp13670=) rs193191368 0.00088
NM_004415.4(DSP):c.741G>A (p.Ala247=) rs2806234 0.00083
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=) rs372609980 0.00079
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=) rs190406444 0.00079
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00068
NM_173477.5(USH1G):c.1012G>A (p.Gly338Arg) rs151242039 0.00068
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_000257.4(MYH7):c.2514G>A (p.Pro838=) rs45560638 0.00058
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00051
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) rs3729712 0.00048
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg) rs554853074 0.00048
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250 0.00031
NM_005422.4(TECTA):c.1461A>G (p.Gly487=) rs202127508 0.00024
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396 0.00021
NM_005633.4(SOS1):c.109A>G (p.Thr37Ala) rs150565592 0.00016
NM_000219.6(KCNE1):c.162C>T (p.Phe54=) rs17173508 0.00012
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu) rs72646843
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del) rs771383153
NM_006005.3(WFS1):c.2387ACG[3] (p.Asp797dup) rs397517197
NM_006005.3(WFS1):c.350C>T (p.Thr117Met) rs141225426
NM_014000.3(VCL):c.120C>T (p.Leu40=) rs144080529
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=) rs111033487
NM_024009.3(GJB3):c.109G>A (p.Val37Met) rs148388884
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114

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