ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University and "likely pathogenic" from any submitter

Minimum review status of the submission from Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University: Collection method of the submission from Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter) rs750326619 0.00001
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe) rs1403669200 0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 0.00001
NM_031885.5(BBS2):c.522T>A (p.Asp174Glu) rs767373822 0.00001
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800 0.00001
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549 0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445 0.00001
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs) rs1560708847

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