ClinVar Miner

List of variants reported as pathogenic for autosomal recessive osteopetrosis by Center for Molecular Medicine, Children’s Hospital of Fudan University

Included ClinVar conditions (16):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter)	rs371263807	0.00010
NM_006019.4(TCIRG1):c.1114C>T (p.Gln372Ter)	rs776436008

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