ClinVar Miner

Variants with conflicting interpretations "likely benign" from Centre for Mendelian Genomics, University Medical Centre Ljubljana and "uncertain significance" from any submitter

Minimum review status of the submission from Centre for Mendelian Genomics, University Medical Centre Ljubljana: Collection method of the submission from Centre for Mendelian Genomics, University Medical Centre Ljubljana:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_000140.5(FECH):c.68-23C>T rs2269219 0.27629
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_004006.3(DMD):c.5586+9G>A rs200025478 0.00044
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_001330078.2(NRXN1):c.772+1040A>T rs201741449 0.00011
NM_001374353.1(GLI2):c.413C>T (p.Thr138Met) rs148317983 0.00004
NM_013275.6(ANKRD11):c.301G>A (p.Gly101Arg) rs1373571533 0.00002
NM_013275.6(ANKRD11):c.3467G>A (p.Arg1156Gln) rs775910970 0.00001
NM_024757.5(EHMT1):c.670G>A (p.Val224Ile) rs1288948653 0.00001
NM_182914.3(SYNE2):c.9501G>T (p.Gln3167His) rs1026697162 0.00001
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_003482.4(KMT2D):c.6607A>T (p.Thr2203Ser) rs1943505364
NM_024675.4(PALB2):c.2383C>G (p.Gln795Glu) rs1966856854
NM_139058.3(ARX):c.1300GCC[6] (p.Ala440del) rs398124508

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