ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde and "likely benign" from any submitter

Minimum review status of the submission from Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde: Collection method of the submission from Unit for Genetic & Epidemiological Research on Neurological Disorders, Instituto de Investigação e Inovação em Saúde:
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_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165 0.00694
NM_006612.6(KIF1C):c.1111G>A (p.Ala371Thr) rs142056835 0.00379
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_006612.6(KIF1C):c.2299G>A (p.Gly767Arg) rs118037269 0.00157

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