ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen and "uncertain significance" from any submitter

Minimum review status of the submission from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen: Collection method of the submission from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 86
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024 0.00178
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_173477.5(USH1G):c.310A>G (p.Met104Val) rs149529031 0.00031
NM_054012.4(ASS1):c.-4C>T rs138350285 0.00022
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) rs375014127 0.00015
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00004
NM_014053.4(FLVCR1):c.847G>C (p.Ala283Pro) rs777525949 0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_014049.5(ACAD9):c.728C>G (p.Thr243Arg) rs368222811 0.00003
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp) rs775773057 0.00002
NM_005247.4(FGF3):c.166C>T (p.Leu56Phe) rs782324453 0.00002
NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys) rs113994123 0.00002
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp) rs781716640 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001114753.3(ENG):c.-10C>T rs756994701 0.00001
NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln) rs368682034 0.00001
NM_001458.5(FLNC):c.6889G>A (p.Val2297Met) rs1420394583 0.00001
NM_003361.4(UMOD):c.326T>A (p.Val109Glu) rs780462125 0.00001
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu) rs773900146 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_019842.4(KCNQ5):c.2725C>T (p.Arg909Ter) rs776643693 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_145207.3(AFG2A):c.2321G>A (p.Arg774His) rs539850739 0.00001
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp) rs1003615909 0.00001
NM_206933.4(USH2A):c.176G>A (p.Gly59Glu) rs1378799607 0.00001
NM_000051.4(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile) rs1554700630
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000435.3(NOTCH3):c.3893G>T (p.Cys1298Phe) rs2046807248
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del) rs767540194
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys) rs1571820067
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys) rs121913603
NM_000530.8(MPZ):c.646-2A>G rs1670228122
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys) rs1587667544
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln) rs1568447650
NM_001163435.3(TBCK):c.2512C>T (p.Gln838Ter) rs1740799305
NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln) rs749718096
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001298.3(CNGA3):c.827A>G (p.Asn276Ser) rs199474697
NM_002074.5(GNB1):c.347G>A (p.Gly116Asp) rs1646670079
NM_002471.4(MYH6):c.5050C>T (p.Gln1684Ter) rs1849911056
NM_002641.4(PIGA):c.242G>A (p.Arg81His) rs1922162801
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn) rs1568963037
NM_003107.3(SOX4):c.182G>A (p.Arg61Gln) rs1763098947
NM_003119.4(SPG7):c.2161A>G (p.Asn721Asp) rs2152412388
NM_003849.4(SUCLG1):c.719T>G (p.Leu240Arg)
NM_004523.4(KIF11):c.2830C>T (p.Arg944Cys) rs387906642
NM_004820.5(CYP7B1):c.1A>G (p.Met1Val) rs891749853
NM_005422.4(TECTA):c.6016G>A (p.Asp2006Asn) rs2134215546
NM_006009.4(TUBA1A):c.26T>C (p.Val9Ala) rs1565627795
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006060.6(IKZF1):c.448T>C (p.Cys150Arg) rs1812147849
NM_006343.3(MERTK):c.2163T>A (p.His721Gln) rs749472520
NM_006445.4(PRPF8):c.6334AAG[1] (p.Lys2113del) rs1911196248
NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs) rs1064797215
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp) rs267607059
NM_006767.4(LZTR1):c.1687G>C (p.Glu563Gln) rs1374240053
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu) rs1328780843
NM_013254.4(TBK1):c.230CAA[2] (p.Thr79del) rs748007618
NM_014053.4(FLVCR1):c.1317G>A (p.Met439Ile) rs1665113651
NM_014946.4(SPAST):c.1173G>A (p.Leu391=) rs1679218212
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_015178.3(RHOBTB2):c.1376A>G (p.Asp459Gly) rs1811011518
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_017635.5(KMT5B):c.2597_2598del (p.Ser866fs) rs888239971
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332

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