ClinVar Miner

List of variants studied for inborn disorder of bile acid synthesis by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.1298G>A (p.Arg433Gln) rs201107032 0.00002
NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter) rs928915940 0.00001
NM_003049.4(SLC10A1):c.102GTT[1] (p.Leu35del)
NM_003049.4(SLC10A1):c.71A>C (p.Asp24Ala)
NM_004817.4(TJP2):c.1361del (p.Ala454fs) rs587777520
NM_004817.4(TJP2):c.1714G>A (p.Val572Ile)
NM_004817.4(TJP2):c.766_769del (p.Ala256fs) rs587777518

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