ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Genome Diagnostics Laboratory, University Medical Center Utrecht and "pathogenic" 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: 84
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232 0.00075
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_176869.3(PPA2):c.683C>T (p.Pro228Leu) rs138215926 0.00044
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu) rs28939378 0.00036
NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter) rs147948835 0.00022
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met) rs104894705 0.00009
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter) rs201850378 0.00007
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter) rs386833808 0.00006
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg) rs374163823 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_002667.5(PLN):c.26G>A (p.Arg9His) rs754782171 0.00003
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu) rs376328153 0.00002
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln) rs752850609 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155 0.00001
NM_000434.4(NEU1):c.679G>A (p.Gly227Arg) rs769765227 0.00001
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg) rs565825739 0.00001
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys) rs727504244 0.00001
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter) rs749339938 0.00001
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575 0.00001
NM_002354.3(EPCAM):c.307G>A (p.Gly103Arg) rs1346393896 0.00001
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_000059.4(BRCA2):c.-39-2A>G rs1555280053
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu) rs876661269
NM_000169.3(GLA):c.956T>C (p.Ile319Thr) rs2147471929
NM_000218.3(KCNQ1):c.1174T>C (p.Trp392Arg) rs199472774
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg) rs730880695
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.2783A>T (p.Asp928Val) rs727504558
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg) rs2058768195
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000335.5(SCN5A):c.2320del (p.Tyr774fs) rs2125881165
NM_000335.5(SCN5A):c.5225G>A (p.Gly1742Glu) rs199473629
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys) rs886044196
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro) rs796053116
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001111125.3(IQSEC2):c.2278G>A (p.Gly760Ser) rs1556862958
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter) rs1057518195
NM_001267550.2(TTN):c.41329+1G>T rs796238032
NM_001267550.2(TTN):c.59926+1G>A rs553526525
NM_001267550.2(TTN):c.63625C>T (p.Arg21209Ter) rs794729279
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del) rs397516470
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter)
NM_001378454.1(ALMS1):c.10262del (p.Pro3421fs) rs2104063769
NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs) rs2128939508
NM_002448.3(MSX1):c.605G>A (p.Arg202His) rs121913129
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_003000.3(SDHB):c.653G>C (p.Trp218Ser) rs1553177290
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_004360.5(CDH1):c.1320+1G>T rs886039685
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) rs80356734
NM_014270.5(SLC7A9):c.120G>A (p.Val40=) rs140179068
NM_017849.4(TMEM127):c.410-2A>G rs121908826
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) rs866242631
NM_145207.3(AFG2A):c.1883A>G (p.Asp628Gly) rs768528444
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu) rs552219028
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387

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