ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Institute of Medical Molecular Genetics, University of Zurich and "pathogenic" from any submitter

Minimum review status of the submission from Institute of Medical Molecular Genetics, University of Zurich: Collection method of the submission from Institute of Medical Molecular Genetics, University of Zurich:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 55
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HGVS dbSNP gnomAD frequency
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024 0.00299
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476 0.00016
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys) rs138444697 0.00010
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142 0.00003
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406 0.00003
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp) rs61752067 0.00001
NM_000330.4(RS1):c.544C>T (p.Arg182Cys) rs61753171 0.00001
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter) rs61749414 0.00001
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) rs201738997 0.00001
NM_000350.3(ABCA4):c.4352+1G>A rs200967229 0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146 0.00001
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861 0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403 0.00001
NM_000350.3(ABCA4):c.5018+2T>C rs61750562 0.00001
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter) rs61750571 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_004183.4(BEST1):c.653G>A (p.Arg218His) rs281865239 0.00001
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg) rs199476187 0.00001
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000350.2(ABCA4):c.[1622T>C;3113C>T]
NM_000350.3(ABCA4):c.1621_1622del (p.Leu541fs) rs1553192715
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys) rs1557787473
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) rs387906385
NM_000350.3(ABCA4):c.5196+2T>C rs61751405
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs) rs730882261
NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp) rs121434491
NM_002242.4(KCNJ13):c.484C>T (p.Arg162Trp) rs121918542
NM_004183.4(BEST1):c.658C>T (p.Gln220Ter) rs775283269
NM_004183.4(BEST1):c.728C>T (p.Ala243Val) rs28940570
NM_004183.4(BEST1):c.881TCA[1] (p.Ile295del) rs121918283
NM_022726.4(ELOVL4):c.810C>G (p.Tyr270Ter) rs104893946
NM_025114.4(CEP290):c.6604del (p.Ile2202fs) rs758329611
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg) rs149648640
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615

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