ClinVar Miner

List of variants studied for bile acid malabsorption, primary, 1 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000452.3(SLC10A2):c.785C>T (p.Thr262Met) rs72547505 0.00045
NM_000452.3(SLC10A2):c.313T>C (p.Cys105Arg) rs201206937 0.00002
NM_000452.3(SLC10A2):c.318C>A (p.Cys106Ter)

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