ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen and "pathogenic" from any submitter

Minimum review status of the submission from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen: Collection method of the submission from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 96
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
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_016233.2(PADI3):c.335T>A (p.Leu112His) rs142129409 0.00490
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00391
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00188
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00048
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00042
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser) rs55886062 0.00040
NM_014321.4(ORC6):c.2T>C (p.Met1Thr) rs146795505 0.00028
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00027
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00024
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00021
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617 0.00016
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381 0.00014
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu) rs199422209 0.00011
NM_024666.5(AAGAB):c.1A>G (p.Met1Val) rs539301011 0.00011
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392 0.00010
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met) rs104894705 0.00009
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121 0.00009
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00003
NM_000257.4(MYH7):c.1325G>A (p.Arg442His) rs730880870 0.00003
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00002
NM_001846.4(COL4A2):c.360+2T>C rs2139454253 0.00002
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys) rs111033568 0.00002
NM_012200.4(B3GAT3):c.1A>T (p.Met1Leu) rs139759238 0.00002
NM_024422.6(DSC2):c.943-1G>A rs796756333 0.00002
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000094.4(COL7A1):c.6994C>T (p.Arg2332Ter) rs765027608 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_002769.5(PRSS1):c.365G>A (p.Arg122His) rs111033565 0.00001
NM_003172.4(SURF1):c.269T>C (p.Leu90Pro) rs782024654 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu) rs376328153 0.00001
NM_020964.3(EPG5):c.5869+1G>A rs748670315 0.00001
NM_152384.3(BBS5):c.209-2A>G rs1477098739 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_000027.4(AGA):c.336del (p.Ile112fs) rs386833422
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val) rs41293513
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg) rs863223650
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu) rs2069544
NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala) rs1368508052
NM_000527.5(LDLR):c.1549T>C (p.Ser517Pro) rs879254936
NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys) rs879255045
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter) rs1057523275
NM_001267550.2(TTN):c.41329+1G>T rs796238032
NM_001267550.2(TTN):c.49263C>A (p.Tyr16421Ter) rs376188859
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) rs751502842
NM_001267550.2(TTN):c.58388del (p.Asn19463fs) rs2050854171
NM_001267550.2(TTN):c.59351_59352del (p.Pro19784fs) rs886039027
NM_001267550.2(TTN):c.63793+1G>A rs2154182296
NM_001267550.2(TTN):c.79018G>T (p.Glu26340Ter) rs2154166071
NM_001267550.2(TTN):c.80530del (p.Ser26844fs) rs2154164929
NM_001267550.2(TTN):c.82255C>T (p.Gln27419Ter) rs2154161716
NM_001267550.2(TTN):c.85809del (p.Lys28603fs) rs796983799
NM_001267550.2(TTN):c.89314G>T (p.Glu29772Ter) rs200503016
NM_001267550.2(TTN):c.98990-1G>T rs796111471
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys) rs796052231
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter) rs121908428
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter) rs797045282
NM_001429.4(EP300):c.3671+1G>A rs2059103511
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001458.5(FLNC):c.4456+1G>A rs1318885805
NM_004415.4(DSP):c.1670_1671del (p.Ile557fs) rs2113677479
NM_004415.4(DSP):c.4608_4612del (p.Arg1537fs) rs796620239
NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter) rs777573018
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu) rs1565627304
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006940.6(SOX5):c.1673G>A (p.Arg558His) rs2547813307
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp) rs1554065887
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg) rs1586393556
NM_025216.3(WNT10A):c.831G>C (p.Trp277Cys) rs1234227647
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_152558.5(IQCE):c.895_904del (p.Val301fs) rs773701437
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704

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