ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Johns Hopkins Genomics, Johns Hopkins University and "pathogenic" from any submitter

Minimum review status of the submission from Johns Hopkins Genomics, Johns Hopkins University: Collection method of the submission from Johns Hopkins Genomics, Johns Hopkins University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_000492.4(CFTR):c.601G>A (p.Val201Met) rs138338446 0.00046
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_001006658.3(CR2):c.658C>T (p.Arg220Ter) rs141472681 0.00006
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile) rs397508293 0.00004
NM_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln) rs781326398 0.00004
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe) rs73215912 0.00003
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120 0.00002
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp) rs774945680 0.00001
NM_000492.4(CFTR):c.2679G>T (p.Gly893=) rs397508419 0.00001
NM_000492.4(CFTR):c.273+4A>G rs387906374 0.00001
NM_015114.3(ANKLE2):c.1606C>T (p.Arg536Cys) rs761627940 0.00001
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly) rs397508170
NM_001142569.3(INAVA):c.743A>T (p.Tyr248Phe) rs41313912

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