ClinVar Miner

List of variants studied for inborn disorder of bile acid synthesis by Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_003049.4(SLC10A1):c.755G>A (p.Arg252His) rs147226818 0.00020
NM_003049.4(SLC10A1):c.104T>A (p.Leu35Ter) rs200282964 0.00002

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