ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from SIB Swiss Institute of Bioinformatics and "pathogenic" from any submitter

Minimum review status of the submission from SIB Swiss Institute of Bioinformatics: Collection method of the submission from SIB Swiss Institute of Bioinformatics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 102
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HGVS dbSNP gnomAD frequency
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg) rs35201073 0.00128
NM_002226.5(JAG2):c.2044C>T (p.Pro682Ser) rs200708284 0.00019
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met) rs371709824 0.00009
NM_001287491.2(TET3):c.2254C>T (p.Arg752Cys) rs534089911 0.00008
NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp) rs778665661 0.00006
NM_144988.4(ALG14):c.422T>G (p.Val141Gly) rs139005007 0.00006
NM_017646.6(TRIT1):c.1256A>C (p.His419Pro) rs566435653 0.00005
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser) rs199622789 0.00004
NM_017951.5(SMPD4):c.1220C>T (p.Pro407Leu) rs747433356 0.00004
NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter) rs199896820 0.00004
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln) rs376095522 0.00004
NM_144988.4(ALG14):c.326G>A (p.Arg109Gln) rs199689080 0.00004
NM_001387263.1(PATL2):c.839G>A (p.Arg280Gln) rs569729547 0.00003
NM_001042646.3(TRAK1):c.986T>C (p.Leu329Pro) rs770281448 0.00001
NM_001302084.2(TOP6BL):c.1006T>C (p.Ser336Pro) rs1449401018 0.00001
NM_001387263.1(PATL2):c.1108G>A (p.Gly370Arg) rs1397500378 0.00001
NM_001387263.1(PATL2):c.953T>C (p.Ile318Thr) rs1011539285 0.00001
NM_001447.3(FAT2):c.10758G>C (p.Lys3586Asn) rs770597316 0.00001
NM_001447.3(FAT2):c.10946G>A (p.Arg3649Gln) rs201335279 0.00001
NM_005269.3(GLI1):c.1517T>A (p.Leu506Gln) rs753690500 0.00001
NM_012268.4(PLD3):c.923T>C (p.Leu308Pro) rs537053537 0.00001
NM_015231.3(NUP160):c.2305G>A (p.Glu769Lys) rs775637217 0.00001
NM_015231.3(NUP160):c.2626C>T (p.Arg876Ter) rs766361033 0.00001
NM_017646.6(TRIT1):c.856A>G (p.Lys286Glu) rs1060505019 0.00001
NM_033004.4(NLRP1):c.2176C>T (p.Arg726Trp) rs776245016 0.00001
NM_152268.4(PARS2):c.836C>T (p.Ser279Leu) rs730882153 0.00001
NM_000180.4(GUCY2D):c.2798T>C (p.Val933Ala) rs1567961904
NM_001001557.4(GDF6):c.1287C>A (p.Ser429Arg) rs1554571225
NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro) rs1567861571
NM_001103.4(ACTN2):c.392T>C (p.Leu131Pro) rs1572114611
NM_001130144.3(LTBP3):c.2087C>G (p.Ser696Cys) rs1554974135
NM_001135651.3(EIF2AK2):c.1382C>G (p.Ser461Cys) rs1572996700
NM_001135651.3(EIF2AK2):c.31A>C (p.Met11Leu) rs1363544084
NM_001135651.3(EIF2AK2):c.325G>T (p.Ala109Ser) rs1675334390
NM_001135651.3(EIF2AK2):c.398A>T (p.Tyr133Phe) rs1573029592
NM_001135651.3(EIF2AK2):c.95A>C (p.Asn32Thr) rs1675604381
NM_001135651.3(EIF2AK2):c.95A>G (p.Asn32Ser) rs1675604381
NM_001145026.2(PTPRQ):c.6881G>A (p.Trp2294Ter) rs1555214288
NM_001162498.3(LPAR6):c.587C>T (p.Pro196Leu) rs115596308
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu) rs1426679303
NM_001321967.2(ATAD1):c.162G>C (p.Gln54His) rs1554884979
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001563.4(IMPG1):c.1838T>C (p.Leu613Pro) rs1781948884
NM_002226.5(JAG2):c.221G>C (p.Cys74Ser) rs2141000225
NM_002226.5(JAG2):c.490G>A (p.Glu164Lys) rs1888570315
NM_002226.5(JAG2):c.728C>A (p.Ala243Asp) rs867073471
NM_002437.5(MPV17):c.70G>T (p.Gly24Trp) rs121909725
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys) rs121913621
NM_002470.4(MYH3):c.1385A>G (p.Asp462Gly) rs121913622
NM_002470.4(MYH3):c.4031T>C (p.Leu1344Pro) rs1567553806
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003108.4(SOX11):c.139G>A (p.Gly47Ser)
NM_003380.5(VIM):c.623A>G (p.Gln208Arg) rs1085307141
NM_003676.4(DEGS1):c.395A>G (p.His132Arg) rs1558209997
NM_003801.4(GPAA1):c.160_161delinsAA (p.Ala54Asn) rs1554763777
NM_004184.4(WARS1):c.1342C>T (p.Arg448Trp)
NM_004184.4(WARS1):c.997G>A (p.Ala333Thr)
NM_004311.4(ARL3):c.269A>G (p.Tyr90Cys) rs1564730440
NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg) rs1562974383
NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg) rs201816920
NM_004539.4(NARS1):c.32G>C (p.Arg11Pro) rs771435243
NM_004897.5(MINPP1):c.1456G>A (p.Glu486Lys) rs2131848604
NM_005032.7(PLS3):c.1774A>G (p.Met592Val)
NM_005647.4(TBL1X):c.1246A>T (p.Asn416Tyr) rs1601855785
NM_005647.4(TBL1X):c.1510C>T (p.His504Tyr) rs1601857538
NM_005647.4(TBL1X):c.1526A>G (p.Tyr509Cys) rs1601857555
NM_006852.6(TLK2):c.2092C>T (p.Arg698Ter) rs1555669421
NM_006852.6(TLK2):c.890G>A (p.Gly297Asp) rs1555639254
NM_012479.4(YWHAG):c.44A>C (p.Glu15Ala) rs1554618767
NM_014003.4(DHX38):c.995G>A (p.Gly332Asp) rs587777554
NM_014055.4(IFT81):c.1300CTT[1] (p.Leu435del) rs1555266475
NM_014727.3(KMT2B):c.7549C>T (p.Arg2517Trp) rs1057519285
NM_014874.4(MFN2):c.491C>T (p.Ala164Val) rs1553142699
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
NM_015213.4(DENND5A):c.1622A>G (p.Asp541Gly) rs1057519309
NM_015278.5(SASH1):c.1537A>C (p.Ser513Arg) rs1237876014
NM_015278.5(SASH1):c.1784T>C (p.Met595Thr) rs1562491501
NM_016038.4(SBDS):c.24C>A (p.Asn8Lys) rs28942099
NM_016188.5(ACTL6B):c.230A>G (p.Asp77Gly) rs1562851259
NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del) rs772520618
NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser) rs1555028104
NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter) rs367752391
NM_018965.4(TREM2):c.401A>G (p.Asp134Gly) rs28939079
NM_018965.4(TREM2):c.558G>T (p.Lys186Asn) rs28937876
NM_020702.5(MYORG):c.1057GAC[1] (p.Asp354del) rs1180204613
NM_020702.5(MYORG):c.695C>T (p.Ser232Leu) rs757434146
NM_020702.5(MYORG):c.782_783delinsTT (p.Arg261Leu) rs1563982307
NM_020964.3(EPG5):c.4007G>A (p.Gly1336Glu) rs1085308061
NM_024844.5(NUP85):c.1430C>T (p.Ala477Val) rs1568094661
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu) rs1554261079
NM_133181.4(EPS8L3):c.22G>A (p.Ala8Thr) rs1650987435
NM_138638.5(CFL2):c.19G>A (p.Val7Met) rs397515451
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_152268.4(PARS2):c.239T>C (p.Ile80Thr) rs1246773873
NM_152268.4(PARS2):c.604C>G (p.Arg202Gly) rs141760650
NM_152268.4(PARS2):c.607G>A (p.Glu203Lys) rs1557762729
NM_152713.5(STT3A):c.1589A>C (p.Tyr530Ser) rs2135940602
NM_152713.5(STT3A):c.1637C>T (p.Thr546Ile) rs2135940683
NM_152713.5(STT3A):c.985C>T (p.Arg329Cys) rs2135932096
NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg) rs772437766

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