ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München and "pathogenic" from any submitter

Minimum review status of the submission from Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München: Collection method of the submission from Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 71
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000782.5(CYP24A1):c.1186C>T (p.Arg396Trp) rs114368325 0.00079
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp) rs139515727 0.00011
NM_000092.5(COL4A4):c.3044G>A (p.Gly1015Glu) rs764323652 0.00008
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly) rs765088174 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_004425.4(ECM1):c.499T>A (p.Phe167Ile) rs121909116 0.00004
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_001080472.4(FITM2):c.694G>A (p.Gly232Arg) rs765281145 0.00001
NM_001281740.3(FHOD3):c.1583A>G (p.Tyr528Cys) rs2036159242 0.00001
NM_001379659.1(ZNF142):c.3775C>T (p.Arg1259Ter) rs546151500 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_014336.5(AIPL1):c.265T>C (p.Cys89Arg) rs1264794214 0.00001
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920 0.00001
NM_017866.6(TMEM70):c.105dup (p.Val36fs) rs1411381518 0.00001
NM_020549.5(CHAT):c.1258C>T (p.Arg420Cys) rs121912822 0.00001
NM_000016.6(ACADM):c.472T>C (p.Tyr158His) rs1570876467
NM_000047.3(ARSL):c.349G>A (p.Gly117Arg) rs122460152
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu) rs121912826
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup) rs1175052474
NM_000092.5(COL4A4):c.193-2A>C rs2125038490
NM_000092.5(COL4A4):c.2734G>C (p.Gly912Arg) rs1553640846
NM_000092.5(COL4A4):c.71+1del rs2125387640
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000965.5(RARB):c.1210C>T (p.Gln404Ter) rs1575553547
NM_001029896.2(WDR45):c.516+1_516+3del rs1557084113
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg) rs1064795334
NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter) rs746975723
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr) rs1588582695
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala) rs1555492758
NM_001323289.2(CDKL5):c.554+1G>A rs1555950083
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_001848.3(COL6A1):c.1056+1del rs1556425853
NM_003482.4(KMT2D):c.15157GACCTG[3] (p.5053DL[3]) rs398123725
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys) rs1005618432
NM_004341.5(CAD):c.1843-3C>T rs1057519262
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_005591.4(MRE11):c.1112dup (p.Gly372fs) rs1591681273
NM_005591.4(MRE11):c.820_821del (p.Leu274fs) rs1565228898
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
NM_006415.4(SPTLC1):c.112CTT[1] (p.Leu39del) rs1197928094
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro) rs1553319290
NM_015915.5(ATL1):c.1217AGA[1] (p.Lys407del) rs1595625099
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016123.4(IRAK4):c.333del (p.Leu112fs)
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_017780.4(CHD7):c.7800_7801dup (p.Tyr2601fs)
NM_021971.4(GMPPB):c.1000G>A (p.Asp334Asn) rs397509422
NM_032861.4(SERAC1):c.91+6T>C rs1554265452
NM_033380.3(COL4A5):c.866G>A (p.Gly289Asp) rs104886450
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln) rs786201003
NM_078629.4(MSL3):c.1466+1G>A rs1601774648
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu) rs1581809655
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala) rs1599725621
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.