ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Genome Diagnostics Laboratory, University Medical Center Utrecht and "likely benign" from any submitter

Minimum review status of the submission from Genome Diagnostics Laboratory, University Medical Center Utrecht: Collection method of the submission from Genome Diagnostics Laboratory, University Medical Center Utrecht:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 87
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001 0.00284
NM_000379.4(XDH):c.3536T>C (p.Ile1179Thr) rs139515054 0.00222
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00217
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748 0.00174
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln) rs149772470 0.00160
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328 0.00116
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala) rs115333628 0.00116
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln) rs184394424 0.00107
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00103
NM_207361.6(FREM2):c.5417G>A (p.Gly1806Asp) rs145208009 0.00101
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00074
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln) rs147596628 0.00058
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801 0.00034
NM_170665.4(ATP2A2):c.3064A>G (p.Ile1022Val) rs140234740 0.00033
NM_015570.4(AUTS2):c.581C>T (p.Ser194Phe) rs150765660 0.00031
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330 0.00029
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_000487.6(ARSA):c.982G>A (p.Val328Met) rs143994992 0.00022
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907 0.00022
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys) rs201510986 0.00021
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys) rs145293873 0.00021
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln) rs147447269 0.00021
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) rs202149931 0.00020
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00019
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile) rs369387744 0.00019
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala) rs201453600 0.00018
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253 0.00017
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00016
NM_001134363.3(RBM20):c.1455A>G (p.Ser485=) rs751559376 0.00016
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp) rs763039506 0.00016
NM_001458.5(FLNC):c.4763C>G (p.Ala1588Gly) rs148545460 0.00016
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919 0.00016
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr) rs397516775 0.00016
NM_003172.4(SURF1):c.745A>G (p.Asn249Asp) rs587669420 0.00016
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676 0.00015
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln) rs149241435 0.00015
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_001458.5(FLNC):c.1568T>C (p.Val523Ala) rs182845462 0.00012
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser) rs773035917 0.00011
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) rs193922385 0.00010
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val) rs200516164 0.00010
NM_003239.5(TGFB3):c.873G>A (p.Pro291=) rs370006165 0.00010
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_001267550.2(TTN):c.79334G>A (p.Arg26445His) rs764254441 0.00009
NM_001267550.2(TTN):c.81565C>G (p.Leu27189Val) rs142391957 0.00009
NM_001458.5(FLNC):c.1605C>T (p.Cys535=) rs199976790 0.00009
NM_201384.3(PLEC):c.11077G>A (p.Ala3693Thr) rs369497741 0.00009
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_002230.4(JUP):c.475G>T (p.Val159Leu) rs782702266 0.00008
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_000117.3(EMD):c.454C>T (p.Arg152Cys) rs376456050 0.00006
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00006
NM_001267550.2(TTN):c.65389T>G (p.Cys21797Gly) rs375830234 0.00006
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup) rs772268958 0.00006
NM_001267550.2(TTN):c.97643G>A (p.Arg32548His) rs55676195 0.00006
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) rs531732438 0.00006
NM_020774.4(MIB1):c.376C>T (p.Arg126Ter) rs190657514 0.00006
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met) rs200289457 0.00005
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val) rs727503538 0.00005
NM_002230.4(JUP):c.460G>A (p.Glu154Lys) rs782765314 0.00005
NM_000335.5(SCN5A):c.3080G>A (p.Arg1027Gln) rs763891399 0.00004
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322 0.00004
NM_001134363.3(RBM20):c.3344C>T (p.Ser1115Phe) rs769531546 0.00004
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His) rs757918924 0.00004
NM_001267550.2(TTN):c.4274C>T (p.Ala1425Val) rs746063269 0.00004
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser) rs757343393 0.00004
NM_007078.3(LDB3):c.944C>T (p.Pro315Leu) rs371649487 0.00004
NM_001159699.2(FHL1):c.792C>T (p.Tyr264=) rs755385158 0.00003
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val) rs373815064 0.00003
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val) rs374203813 0.00003
NM_001267550.2(TTN):c.87815A>G (p.Tyr29272Cys) rs886039083 0.00003
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys) rs749381544 0.00003
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=) rs727503181 0.00002
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_001101362.3(KBTBD13):c.251G>C (p.Cys84Ser) rs999785767 0.00002
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His) rs761402128 0.00002
NM_001267550.2(TTN):c.49570C>T (p.Arg16524Cys) rs779336886 0.00002
NM_001267550.2(TTN):c.69554G>A (p.Arg23185Gln) rs201448988 0.00002
NM_002471.4(MYH6):c.3468C>T (p.Gly1156=) rs545420992 0.00002
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys) rs775769503

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