ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues and "likely pathogenic" from any submitter

Minimum review status of the submission from Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues: Collection method of the submission from Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000238.4(KCNH2):c.2266A>G (p.Met756Val) rs199473534 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser) rs199472759
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs) rs763462603
NM_000238.4(KCNH2):c.1814C>T (p.Pro605Leu) rs199472938
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile) rs199473018
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter) rs1131691735
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_013275.6(ANKRD11):c.7144C>T (p.Gln2382Ter) rs2151730563

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