ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from NeuroMeGen, Hospital Clinico Santiago de Compostela and "uncertain significance" from any submitter

Minimum review status of the submission from NeuroMeGen, Hospital Clinico Santiago de Compostela: Collection method of the submission from NeuroMeGen, Hospital Clinico Santiago de Compostela:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly) rs143990563 0.00064
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093 0.00005
NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys) rs376357016 0.00002
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462 0.00001
NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys) rs897976020 0.00001
NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr) rs1555950468

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