ClinVar Miner

Variants with conflicting interpretations "benign" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories and "likely benign" from Fulgent Genetics, Fulgent Genetics

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: 182
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HGVS dbSNP gnomAD frequency
NM_203486.3(DLL3):c.425T>A (p.Leu142Gln) rs55741253 0.06752
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_004615.4(TSPAN7):c.237T>C (p.Ala79=) rs7049247 0.04476
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03311
NM_001378964.1(CDON):c.1851+14G>A rs113328989 0.02329
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875 0.02050
NM_003998.4(NFKB1):c.1519A>G (p.Met507Val) rs4648072 0.01884
NM_000342.4(SLC4A1):c.2712C>T (p.Tyr904=) rs45519733 0.01857
NM_019594.4(LRRC8A):c.1458C>T (p.Pro486=) rs11999276 0.01838
NM_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
NM_001009944.3(PKD1):c.9669G>A (p.Thr3223=) rs144817614 0.01582
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=) rs75143468 0.01568
NM_000264.5(PTCH1):c.318C>T (p.Leu106=) rs1805153 0.01567
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) rs28997576 0.01443
NM_002857.4(PEX19):c.879T>C (p.Gly293=) rs74125561 0.01375
NM_004304.5(ALK):c.952+16C>T rs112736234 0.01371
NM_020312.4(COQ9):c.921+13C>T rs115677652 0.01317
NM_001369.3(DNAH5):c.5658C>T (p.Tyr1886=) rs6880264 0.01314
NM_001009944.3(PKD1):c.3424C>T (p.Arg1142Trp) rs142202785 0.01272
NM_000540.3(RYR1):c.12012+19T>C rs181590606 0.01243
NM_001009944.3(PKD1):c.8679C>G (p.Ser2893=) rs114143642 0.01226
NM_006031.6(PCNT):c.4962+10G>A rs114474454 0.01225
NM_017433.5(MYO3A):c.533C>T (p.Thr178Ile) rs33968748 0.01220
NM_000037.4(ANK1):c.3813G>A (p.Glu1271=) rs16890758 0.01205
NM_178452.6(DNAAF1):c.780G>C (p.Gln260His) rs112051327 0.01197
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387 0.01193
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371 0.01150
NM_000037.4(ANK1):c.489C>T (p.Leu163=) rs34173100 0.01106
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215 0.01103
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_003978.5(PSTPIP1):c.642+16G>A rs78282498 0.01035
NM_000098.3(CPT2):c.1767G>A (p.Thr589=) rs77565483 0.01032
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_000297.4(PKD2):c.1359A>G (p.Pro453=) rs17013754 0.00985
NM_001567.4(INPPL1):c.909G>C (p.Lys303Asn) rs17847215 0.00985
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447 0.00976
NM_001009944.3(PKD1):c.3935G>A (p.Arg1312Gln) rs142129358 0.00924
NM_000018.4(ACADVL):c.623-8C>T rs144996066 0.00919
NM_001009944.3(PKD1):c.1323G>A (p.Gly441=) rs145776888 0.00910
NM_014822.4(SEC24D):c.1576C>T (p.Leu526Phe) rs141180741 0.00908
NM_003978.5(PSTPIP1):c.204G>A (p.Thr68=) rs113386299 0.00891
NM_017433.5(MYO3A):c.3094G>A (p.Ala1032Thr) rs34918608 0.00845
NM_001376013.1(EPB41):c.1464-20T>C rs139715164 0.00835
NM_006031.6(PCNT):c.6616A>G (p.Thr2206Ala) rs9981448 0.00833
NM_001009944.3(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992 0.00811
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387 0.00775
NM_003793.4(CTSF):c.1368C>T (p.Asp456=) rs148155987 0.00759
NM_003793.4(CTSF):c.939G>A (p.Gly313=) rs114727660 0.00758
NM_006031.6(PCNT):c.8065-19G>A rs78561636 0.00750
NM_031443.4(CCM2):c.984G>A (p.Gly328=) rs112504276 0.00732
NM_001358921.2(COQ2):c.957C>T (p.Tyr319=) rs141431344 0.00725
NM_001009944.3(PKD1):c.11523C>T (p.Asn3841=) rs113369380 0.00705
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_000341.4(SLC3A1):c.892-6C>G rs114640930 0.00651
NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro) rs35881595 0.00647
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln) rs142032474 0.00643
NM_001009944.3(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043 0.00642
NM_000207.3(INS):c.188-16C>T rs5507 0.00616
NM_022041.4(GAN):c.1239C>T (p.Ile413=) rs61740238 0.00609
NM_006445.4(PRPF8):c.5469C>T (p.His1823=) rs115404141 0.00600
NM_001084.5(PLOD3):c.1144G>C (p.Asp382His) rs41281013 0.00583
NM_001013703.4(EIF2AK4):c.1660+12A>T rs55851223 0.00580
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=) rs74328058 0.00561
NM_001009944.3(PKD1):c.8161+8G>A rs199569003 0.00559
NM_006785.4(MALT1):c.1223-20_1223-17del rs558928879 0.00553
NM_018063.5(HELLS):c.993G>A (p.Thr331=) rs112321661 0.00550
NM_000037.4(ANK1):c.1999-17C>T rs28571216 0.00543
NM_016204.4(GDF2):c.911C>T (p.Thr304Met) rs75024165 0.00530
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met) rs62073570 0.00522
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) rs17109261 0.00521
NM_001277115.2(DNAH11):c.693-9T>C rs72655973 0.00515
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln) rs140958507 0.00501
NM_012096.3(APPL1):c.256T>C (p.Leu86=) rs147166062 0.00501
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser) rs148612299 0.00489
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_002471.4(MYH6):c.36G>A (p.Ala12=) rs141014719 0.00487
NM_001009944.3(PKD1):c.11411+18C>T rs183078730 0.00483
NM_001009944.3(PKD1):c.11934C>T (p.Asp3978=) rs202207855 0.00479
NM_001009944.3(PKD1):c.12198C>T (p.Cys4066=) rs116216040 0.00469
NM_000098.3(CPT2):c.1578T>C (p.Gly526=) rs113493395 0.00455
NM_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774 0.00451
NM_001009944.3(PKD1):c.12765C>T (p.Pro4255=) rs62038811 0.00448
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080 0.00446
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser) rs116520623 0.00445
NM_002471.4(MYH6):c.2168+17C>A rs192337153 0.00443
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_001277115.2(DNAH11):c.6041+18T>C rs72657336 0.00425
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) rs34990188 0.00411
NM_002246.3(KCNK3):c.654G>T (p.Pro218=) rs34292597 0.00407
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609 0.00394
NM_001807.6(CEL):c.402C>G (p.Gly134=) rs150358550 0.00392
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200 0.00389
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) rs76655496 0.00371
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=) rs149775942 0.00366
NM_001009944.3(PKD1):c.4845C>T (p.Asn1615=) rs141557400 0.00364
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu) rs141735896 0.00351
NM_001009944.3(PKD1):c.11346C>T (p.Asp3782=) rs145955373 0.00349
NM_002972.4(SBF1):c.5604T>C (p.Val1868=) rs141053122 0.00332
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_001009944.3(PKD1):c.3296-15G>A rs201704201 0.00316
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_002471.4(MYH6):c.1071C>T (p.Ile357=) rs58131640 0.00309
NM_006445.4(PRPF8):c.2493C>G (p.Ser831=) rs146749363 0.00299
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_144687.4(NLRP12):c.1437G>A (p.Gln479=) rs77667763 0.00294
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=) rs80075498 0.00257
NM_001105206.3(LAMA4):c.4314A>C (p.Ser1438=) rs77367833 0.00251
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_003978.5(PSTPIP1):c.543G>A (p.Lys181=) rs375950478 0.00232
NM_005518.4(HMGCS2):c.1419G>A (p.Lys473=) rs142776952 0.00228
NM_001009944.3(PKD1):c.7863+11C>T rs368629973 0.00214
NM_001105206.3(LAMA4):c.5016T>A (p.Ile1672=) rs148517180 0.00210
NM_001009944.3(PKD1):c.10406-4C>T rs151095649 0.00198
NM_144687.4(NLRP12):c.1299A>G (p.Ala433=) rs73608455 0.00194
NM_144687.4(NLRP12):c.819T>C (p.Pro273=) rs59749540 0.00191
NM_001105206.3(LAMA4):c.2493+15G>T rs77901141 0.00178
NM_020975.6(RET):c.468C>T (p.Ala156=) rs141290380 0.00173
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_003480.4(MFAP5):c.410-18G>A rs151240610 0.00155
NM_001009944.3(PKD1):c.11538-11C>T rs377692278 0.00139
NM_001009944.3(PKD1):c.12816C>T (p.Ser4272=) rs199569478 0.00125
NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln) rs79530903 0.00107
NM_019594.4(LRRC8A):c.1606G>A (p.Val536Ile) rs138622041 0.00102
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563 0.00084
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_001009944.3(PKD1):c.3444G>A (p.Pro1148=) rs117955701 0.00061
NM_001009944.3(PKD1):c.5318C>T (p.Thr1773Ile) rs140162759 0.00058
NM_001039141.3(TRIOBP):c.4077T>C (p.Pro1359=) rs139074745 0.00058
NM_000342.4(SLC4A1):c.2340G>A (p.Leu780=) rs139912334 0.00056
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_003238.6(TGFB2):c.357G>A (p.Pro119=) rs138514914 0.00054
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=) rs201804323 0.00052
NM_000393.5(COL5A2):c.1456-20T>C rs150724439 0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_004304.5(ALK):c.3057C>A (p.Val1019=) rs138406372 0.00043
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446 0.00034
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_020975.6(RET):c.1050C>T (p.Thr350=) rs142188675 0.00031
NM_001114753.3(ENG):c.1533G>A (p.Ala511=) rs140760635 0.00027
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_001009944.3(PKD1):c.8162-12G>A rs375993328 0.00022
NM_001009944.3(PKD1):c.288-20G>A rs572319823 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_000297.4(PKD2):c.2523-7C>T rs199528409 0.00011
NM_001009944.3(PKD1):c.9022G>A (p.Val3008Met) rs117896488 0.00010
NM_000342.4(SLC4A1):c.1800+12C>T rs556266412 0.00008
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_001009944.3(PKD1):c.11916C>G (p.Arg3972=) rs77634115
NM_001009944.3(PKD1):c.3101A>G (p.Asn1034Ser) rs28681051
NM_001009944.3(PKD1):c.7992C>T (p.Ile2664=) rs537012440
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=) rs3729751
NM_001177316.2(SLC34A3):c.942G>C (p.Ala314=) rs34664302
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala) rs386654705
NM_002471.4(MYH6):c.3979-8C>T rs555976716
NM_002471.4(MYH6):c.4360-7C>T rs58949384
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_004863.4(SPTLC2):c.162A>C (p.Leu54=) rs115191009
NM_004863.4(SPTLC2):c.723G>T (p.Thr241=) rs114519796
NM_005609.4(PYGM):c.661-5C>G rs75633423
NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup) rs398124241
NM_022356.4(P3H1):c.2055+13C>G rs76628300

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