ClinVar Miner

List of variants studied for Rotor syndrome by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (1):

Rotor syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_006446.5(SLCO1B1):c.388A>G (p.Asn130Asp)	rs2306283	0.53370
NM_006446.5(SLCO1B1):c.571T>C (p.Leu191=)	rs4149057	0.46746
NM_006446.5(SLCO1B1):c.463C>A (p.Pro155Thr)	rs11045819	0.12387
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala)	rs4149056	0.12106

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