ClinVar Miner

Variants with conflicting interpretations "uncertain significance" 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: 4
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr) rs369292828 0.00001
NM_000088.4(COL1A1):c.4328C>T (p.Ala1443Val) rs1131692326
NM_001349338.3(FOXP1):c.1568T>C (p.Phe523Ser) rs1559602593

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