ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Victorian Clinical Genetics Services, Murdoch Childrens Research Institute and "likely pathogenic" from any submitter

Minimum review status of the submission from Victorian Clinical Genetics Services, Murdoch Childrens Research Institute: Collection method of the submission from Victorian Clinical Genetics Services, Murdoch Childrens Research Institute:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 47
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563 0.00088
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00052
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_016648.4(LARP7):c.320C>T (p.Thr107Ile) rs200393300 0.00026
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_181840.1(KCNK18):c.361dup (p.Tyr121fs) rs541915908 0.00013
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln) rs147366714 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_015346.4(ZFYVE26):c.3139+1G>A rs137907310 0.00006
NM_176869.3(PPA2):c.476C>T (p.Thr159Met) rs752062224 0.00005
NM_016138.5(COQ7):c.319C>T (p.Arg107Trp) rs769570290 0.00004
NM_001164508.2(NEB):c.11910+1G>A rs774495973 0.00003
NM_172201.2(KCNE2):c.347C>T (p.Ala116Val) rs199473367 0.00003
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu) rs781660254 0.00001
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser) rs200433372 0.00001
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246 0.00001
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534 0.00001
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs) rs967826828 0.00001
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met) rs1232197674 0.00001
NM_003227.4(TFR2):c.1330G>A (p.Ala444Thr) rs80338884 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
NM_000548.5(TSC2):c.4628A>G (p.His1543Arg) rs2090628516
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly) rs1830376644
NM_001349338.3(FOXP1):c.1568T>C (p.Phe523Ser) rs1559602593
NM_002641.4(PIGA):c.98A>G (p.His33Arg) rs797044924
NM_003718.5(CDK13):c.484dup (p.Ala162fs) rs1405252481
NM_004646.4(NPHS1):c.2072-6C>G rs200253809
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_007118.4(TRIO):c.4103A>G (p.Asp1368Gly) rs2152363791
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys) rs2147938135
NM_020320.5(RARS2):c.25A>G (p.Ile9Val)
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys) rs2113325423
NM_213653.4(HJV):c.950G>A (p.Cys317Tyr) rs1553769457

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