ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Victorian Clinical Genetics Services,Murdoch Childrens Research Institute

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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GRCh37/hg19 6p21.33(chr6:31824828-31834398)
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter) rs180177210

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