ClinVar Miner

List of variants reported as pathogenic for nutritional disorder by Developmental and Behavioral Pediatrics, First Affiliated Hospital of Jilin University

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_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_015506.3(MMACHC):c.658_660del (p.Lys220del) rs398124296

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