ClinVar Miner

List of variants reported as pathogenic for nutritional disorder by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

Included ClinVar conditions (116):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000334.4(SCN4A):c.2014C>A (p.Arg672Ser) rs80338785

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