ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Clinical Genetics and Genomics, Karolinska University Hospital and "pathogenic" from any submitter

Minimum review status of the submission from Clinical Genetics and Genomics, Karolinska University Hospital: Collection method of the submission from Clinical Genetics and Genomics, Karolinska University Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 89
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val) rs141542003 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_006118.4(HAX1):c.91del (p.Glu31fs) rs764082747 0.00026
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000500.9(CYP21A2):c.850A>G (p.Met284Val) rs770199817 0.00007
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser) rs763296857 0.00003
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) rs781764920 0.00003
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00002
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn) rs387906952 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966 0.00001
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys) rs769744438 0.00001
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His) rs121918594 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) rs374950566 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255 0.00001
NM_007055.4(POLR3A):c.3655G>T (p.Gly1219Ter) rs755978559 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_130810.4(DNAAF4):c.733C>T (p.Arg245Ter) rs748440695 0.00001
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter) rs112371422
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn) rs1601054715
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys) rs119103290
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000388.4(CASR):c.679C>T (p.Arg227Ter) rs1085307984
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser) rs201552310
NM_000516.7(GNAS):c.494G>A (p.Arg165His) rs2090976265
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000540.3(RYR1):c.4435C>T (p.Gln1479Ter) rs1968813234
NM_000546.6(TP53):c.751A>C (p.Ile251Leu) rs730882007
NM_000551.4(VHL):c.449del (p.Asn150fs) rs794727253
NM_000551.4(VHL):c.501_502insTTGTCCGT (p.Ser168fs) rs398123483
NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr) rs587776937
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter) rs879253931
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His) rs796053361
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu) rs886041309
NM_001111125.3(IQSEC2):c.2984G>A (p.Arg995Gln) rs886041767
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr) rs12131800
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys) rs797045164
NM_001282531.3(ADNP):c.3069_3072del (p.Arg1023fs) rs1279657093
NM_001303052.2(MYT1L):c.1975C>T (p.Arg659Ter) rs745333246
NM_001368894.2(PAX6):c.1310A>T (p.Ter437Leu) rs121907922
NM_001372044.2(SHANK3):c.5197C>T (p.Arg1733Ter) rs2083361357
NM_001376.5(DYNC1H1):c.917A>G (p.His306Arg) rs387906738
NM_001384474.1(LOXHD1):c.1475G>A (p.Trp492Ter) rs2038190712
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser) rs1939189846
NM_001844.5(COL2A1):c.3590G>C (p.Gly1197Ala) rs1938686073
NM_002381.5(MATN3):c.359C>T (p.Thr120Met) rs397515546
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_004369.4(COL6A3):c.761del (p.Gly254fs) rs780921503
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn) rs483352809
NM_006218.4(PIK3CA):c.1048G>A (p.Asp350Asn) rs1064793349
NM_006565.4(CTCF):c.1024C>T (p.Arg342Cys) rs1131691283
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs) rs756131136
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_007294.4(BRCA1):c.1881_1884del (p.Ser628fs) rs80357567
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp) rs397509243
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His) rs267606962
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter)
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His) rs587784024
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513

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