ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) and "likely benign" from any submitter

Minimum review status of the submission from Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC): Collection method of the submission from Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 187
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
NM_001291303.3(FAT4):c.3658T>A (p.Ser1220Thr) rs181368820 0.00342
NM_001606.5(ABCA2):c.5134G>A (p.Gly1712Ser) rs149871834 0.00323
NM_020921.4(NIN):c.3197T>A (p.Val1066Asp) rs78280523 0.00316
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00315
NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys) rs2857824 0.00301
NM_020964.3(EPG5):c.3965G>A (p.Arg1322His) rs148641800 0.00232
NM_004369.4(COL6A3):c.1688A>G (p.Asp563Gly) rs112913396 0.00220
NM_031296.3(RAB33B):c.530C>T (p.Thr177Met) rs140381459 0.00210
NM_000389.5(CDKN1A):c.350G>A (p.Cys117Tyr) rs148679597 0.00196
NM_138289.4(ACTRT1):c.547dup (p.Met183fs) rs771087307 0.00191
NM_001204375.2(NPR3):c.1388G>A (p.Arg463Gln) rs41270319 0.00189
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591 0.00188
NM_130398.4(EXO1):c.820G>A (p.Gly274Arg) rs149397534 0.00185
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233 0.00180
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163 0.00179
NM_001195263.2(PDZD7):c.971G>A (p.Ser324Asn) rs200592310 0.00176
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_018451.5(CPAP):c.1021T>G (p.Tyr341Asp) rs143258862 0.00170
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_001270974.2(HYDIN):c.9223C>T (p.Arg3075Cys) rs199706377 0.00149
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His) rs202106628 0.00140
NM_015294.6(TRIM37):c.1919G>A (p.Arg640His) rs112762655 0.00140
NM_001388492.1(HTT):c.3244G>C (p.Asp1082His) rs1065746 0.00133
NM_001698.3(AUH):c.381A>G (p.Ile127Met) rs146227896 0.00125
NM_004260.4(RECQL4):c.3010C>T (p.Arg1004Trp) rs36023964 0.00112
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu) rs146422412 0.00107
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_000426.4(LAMA2):c.2755C>T (p.Arg919Cys) rs138018456 0.00094
NM_012309.5(SHANK2):c.2338A>C (p.Lys780Gln) rs55968949 0.00093
NM_002907.4(RECQL):c.1859C>G (p.Ser620Ter) rs142038240 0.00088
NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile) rs113209379 0.00086
NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys) rs146462599 0.00086
NM_006005.3(WFS1):c.2195G>A (p.Arg732His) rs149013740 0.00083
NM_019066.5(MAGEL2):c.2362A>T (p.Ser788Cys) rs113329438 0.00083
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile) rs138728350 0.00083
NM_004369.4(COL6A3):c.8636C>T (p.Thr2879Met) rs150907698 0.00082
NM_001142864.4(PIEZO1):c.5291A>C (p.Glu1764Ala) rs530387460 0.00077
NM_018451.5(CPAP):c.3920C>T (p.Thr1307Ile) rs144251950 0.00076
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958 0.00074
NM_000285.4(PEPD):c.34G>A (p.Gly12Arg) rs201992066 0.00073
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) rs141274774 0.00073
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134 0.00073
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799 0.00066
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) rs202080221 0.00066
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His) rs149644947 0.00066
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp) rs148046938 0.00063
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys) rs182330532 0.00058
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_004525.3(LRP2):c.10165A>G (p.Ile3389Val) rs140272085 0.00055
NM_032119.4(ADGRV1):c.17528A>G (p.Tyr5843Cys) rs147011199 0.00054
NM_020884.7(MYH7B):c.5372A>C (p.Lys1791Thr) rs191392262 0.00050
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072 0.00049
NM_015909.4(NBAS):c.5465A>C (p.Asn1822Thr) rs199717686 0.00049
NM_001384732.1(CPLANE1):c.4793C>A (p.Thr1598Lys) rs147588579 0.00048
NM_015909.4(NBAS):c.5467A>T (p.Ile1823Phe) rs201084909 0.00047
NM_018474.6(KIZ):c.1660G>T (p.Ala554Ser) rs532984240 0.00046
NM_022773.4(LMF1):c.1405G>A (p.Ala469Thr) rs181731943 0.00046
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp) rs200346497 0.00046
NM_006005.3(WFS1):c.2627A>C (p.Lys876Thr) rs144900514 0.00045
NM_001123385.2(BCOR):c.4724T>C (p.Met1575Thr) rs142595337 0.00043
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser) rs172149856 0.00043
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) rs201907325 0.00042
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys) rs375510570 0.00040
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp) rs200897773 0.00040
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_004369.4(COL6A3):c.3088G>A (p.Val1030Met) rs116238578 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_170665.4(ATP2A2):c.3064A>G (p.Ile1022Val) rs140234740 0.00033
NM_001256789.3(CACNA1F):c.904C>T (p.Arg302Cys) rs139612152 0.00032
NM_001386125.1(OBSCN):c.19850C>T (p.Ala6617Val) rs191098985 0.00032
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys) rs143396225 0.00032
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn) rs145677667 0.00031
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln) rs147927477 0.00031
NM_139125.4(MASP1):c.1507C>T (p.Arg503Cys) rs201025468 0.00031
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys) rs140644696 0.00029
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330 0.00029
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg) rs146700772 0.00028
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963 0.00026
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys) rs201510986 0.00021
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln) rs147447269 0.00021
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala) rs144817385 0.00020
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala) rs201409107 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_004525.3(LRP2):c.2210C>T (p.Ser737Leu) rs201860953 0.00017
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_000095.3(COMP):c.951C>A (p.Asp317Glu) rs200547692 0.00014
NM_000540.3(RYR1):c.641C>T (p.Thr214Met) rs727504129 0.00014
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile) rs376823283 0.00014
NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu) rs184815126 0.00014
NM_002880.4(RAF1):c.680+6T>C rs371846795 0.00014
NM_006005.3(WFS1):c.2054G>A (p.Arg685His) rs142668478 0.00014
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_001267550.2(TTN):c.22090C>T (p.Arg7364Trp) rs397517500 0.00011
NM_006941.4(SOX10):c.1093G>C (p.Gly365Arg) rs748755187 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_001029896.2(WDR45):c.100G>A (p.Val34Met) rs151051355 0.00010
NM_001267550.2(TTN):c.104522G>A (p.Arg34841His) rs373709706 0.00010
NM_001267550.2(TTN):c.18295C>T (p.Leu6099Phe) rs370109572 0.00010
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu) rs142453163 0.00010
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln) rs200639218 0.00010
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys) rs587780102 0.00010
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344 0.00010
NM_001267550.2(TTN):c.13340C>T (p.Ser4447Leu) rs777547090 0.00009
NM_001267550.2(TTN):c.89357C>T (p.Thr29786Ile) rs753966916 0.00009
NM_001267550.2(TTN):c.89515A>G (p.Ile29839Val) rs750806089 0.00009
NM_001267550.2(TTN):c.90950T>C (p.Val30317Ala) rs759474127 0.00009
NM_001347217.2(WDR13):c.892G>T (p.Gly298Trp) rs201415075 0.00009
NM_006005.3(WFS1):c.173C>T (p.Ala58Val) rs369671890 0.00009
NM_006005.3(WFS1):c.1759C>T (p.Arg587Trp) rs138968466 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys) rs753953205 0.00009
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296 0.00009
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_001164508.2(NEB):c.355A>G (p.Thr119Ala) rs182207224 0.00008
NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr) rs191968963 0.00008
NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr) rs377037421 0.00008
NM_194277.3(FRMD7):c.892A>G (p.Ser298Gly) rs368404774 0.00008
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly) rs41295282 0.00007
NM_002641.4(PIGA):c.61A>G (p.Ser21Gly) rs375401655 0.00007
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_001846.4(COL4A2):c.965G>A (p.Arg322Gln) rs201640075 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434 0.00006
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) rs62625284 0.00006
NM_031407.7(HUWE1):c.2387A>T (p.Gln796Leu) rs140366563 0.00006
NM_175914.5(HNF4A):c.353G>A (p.Arg118Gln) rs764196059 0.00006
NM_000257.4(MYH7):c.4010G>A (p.Arg1337Gln) rs368575559 0.00005
NM_001267550.2(TTN):c.56351G>A (p.Arg18784His) rs771284532 0.00005
NM_001267550.2(TTN):c.99922G>A (p.Ala33308Thr) rs201226974 0.00005
NM_001371623.1(TCOF1):c.1124C>T (p.Ser375Leu) rs756584594 0.00005
NM_003482.4(KMT2D):c.10472G>A (p.Arg3491His) rs757247893 0.00005
NM_004006.3(DMD):c.434G>A (p.Arg145Gln) rs398123952 0.00005
NM_000038.6(APC):c.6977G>A (p.Arg2326Gln) rs531178000 0.00004
NM_000142.5(FGFR3):c.985G>A (p.Val329Ile) rs188723332 0.00004
NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr) rs727505196 0.00004
NM_001267550.2(TTN):c.17833T>C (p.Ser5945Pro) rs776790387 0.00004
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu) rs183482849 0.00004
NM_001267550.2(TTN):c.32482C>T (p.Pro10828Ser) rs746685110 0.00004
NM_001267550.2(TTN):c.4274C>T (p.Ala1425Val) rs746063269 0.00004
NM_001267550.2(TTN):c.93179G>A (p.Arg31060His) rs776018262 0.00004
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His) rs754034347 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_001256789.3(CACNA1F):c.209G>A (p.Arg70Gln) rs781923569 0.00003
NM_003242.6(TGFBR2):c.94+16273G>A rs781529108 0.00003
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys) rs145365553 0.00003
NM_002474.3(MYH11):c.1879G>A (p.Gly627Ser) rs563865467 0.00002
NM_018965.4(TREM2):c.677-6T>C rs199910080 0.00002
NM_024675.4(PALB2):c.2360C>T (p.Thr787Ile) rs201042302 0.00002
NM_000179.3(MSH6):c.3679A>T (p.Ile1227Leu) rs587779282 0.00001
NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu) rs730881772 0.00001
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln) rs63751455 0.00001
NM_001160372.4(TRAPPC9):c.3148C>T (p.Arg1050Trp) rs563050274 0.00001
NM_001267550.2(TTN):c.100642T>C (p.Phe33548Leu) rs773561397 0.00001
NM_001267550.2(TTN):c.101728G>A (p.Glu33910Lys) rs943777958 0.00001
NM_001288705.3(CSF1R):c.704T>G (p.Val235Gly) rs1465872803 0.00001
NM_001457.4(FLNB):c.5816C>T (p.Thr1939Met) rs372372509 0.00001
NM_001844.5(COL2A1):c.1505C>T (p.Pro502Leu) rs904660062 0.00001
NM_002474.3(MYH11):c.3910A>C (p.Ile1304Leu) rs200737737 0.00001
NM_033641.4(COL4A6):c.2164C>T (p.Pro722Ser) rs748867663 0.00001
NM_182961.4(SYNE1):c.16867C>T (p.Arg5623Cys) rs570556738 0.00001
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser) rs568309673 0.00001
NM_000059.4(BRCA2):c.10094_10095insGAATTATATC (p.Ser3366fs) rs1064792995
NM_000553.6(WRN):c.2338G>A (p.Val780Ile) rs574787451
NM_001001888.4(VCX3B):c.7C>T (p.Pro3Ser) rs775484942
NM_001177316.2(SLC34A3):c.709G>A (p.Asp237Asn) rs145877051
NM_001267550.2(TTN):c.33501AGA[4] (p.Glu11172del) rs368327166
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del) rs771898264
NM_001330260.2(SCN8A):c.1846GGCTACAGC[1] (p.616GYS[1]) rs758276968
NM_004312.3(ARR3):c.1052C>T (p.Pro351Leu) rs140505250
NM_004517.4(ILK):c.458A>G (p.Glu153Gly) rs867451051
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_014208.3(DSPP):c.3024CAGCAGTGA[1] (p.1005DSS[3]) rs762157486
NM_015175.3(NBEAL2):c.4949CAGCTGCAG[2] (p.Ala1656_Ala1658del) rs535036383
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met) rs201215245
NM_020928.2(ZSWIM6):c.151GCG[7] (p.Ala56dup) rs779283808
NM_020928.2(ZSWIM6):c.442GGC[5] (p.Gly153_Gly154del) rs864309616
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup) rs397517466
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_201384.3(PLEC):c.9081G>A (p.Ala3027=) rs199758196

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.