ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Institute of Human Genetics, Cologne University and "likely pathogenic" from any submitter

Minimum review status of the submission from Institute of Human Genetics, Cologne University: Collection method of the submission from Institute of Human Genetics, Cologne University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 16
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HGVS dbSNP gnomAD frequency
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_001292063.2(OTOG):c.1666C>T (p.Gln556Ter) rs530874854 0.00003
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 0.00003
NM_007126.5(VCP):c.572G>A (p.Arg191Gln) rs121909334 0.00002
NM_000091.5(COL4A3):c.1175G>A (p.Gly392Glu) rs1114167371
NM_000143.4(FH):c.893_904+7del rs1573881533
NM_000492.4(CFTR):c.1329_1350del (p.Asp443fs) rs1562895066
NM_001378418.1(TCF20):c.2568dup (p.Gly857fs)
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_004525.3(LRP2):c.832C>T (p.Arg278Ter) rs1358532875
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs) rs1555525088
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420
NM_017825.3(ADPRS):c.235A>C (p.Thr79Pro) rs1557733311
NM_024685.4(BBS10):c.1871C>G (p.Ser624Ter) rs768385647

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