ClinVar Miner

List of variants reported as pathogenic for inborn disorder of bile acid synthesis by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (5):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_016145.4(WDR83OS):c.156+1G>T	rs1400540411
NM_016145.4(WDR83OS):c.156+2T>A
NM_016145.4(WDR83OS):c.235C>T (p.Gln79Ter)
NM_016145.4(WDR83OS):c.255-4_260del
NM_016145.4(WDR83OS):c.50+1G>T

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