ClinVar Miner

Variants with conflicting interpretations "pathogenic" from OMIM and "uncertain significance" from Centre for Mendelian Genomics, University Medical Centre Ljubljana

Minimum review status of the submission from OMIM: Collection method of the submission from OMIM:
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ClinVar version:
Total variants with conflicting interpretations: 24
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HGVS dbSNP gnomAD frequency
NM_213647.3(FGFR4):c.1162G>A (p.Gly388Arg) rs351855 0.26099
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06828
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099 0.00351
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00346
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln) rs75398746 0.00343
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00050
NM_001202.6(BMP4):c.272C>G (p.Ser91Cys) rs121912767 0.00017
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro) rs372174278 0.00009
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp) rs121918619 0.00006
NM_001273.5(CHD4):c.4822G>A (p.Val1608Ile) rs201992075 0.00005
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg) rs104894187 0.00002
NM_000270.4(PNP):c.265G>A (p.Glu89Lys) rs104894453 0.00001
NM_001077653.2(TBX20):c.456C>G (p.Ile152Met) rs137852954 0.00001
NM_001946.4(DUSP6):c.229T>A (p.Phe77Ile) rs587776978
NM_005909.5(MAP1B):c.3316C>T (p.Arg1106Ter) rs1554055106
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834
NM_198252.3(GSN):c.1585G>A (p.Glu529Lys) rs2063220897

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