ClinVar Miner

List of variants studied for autosomal recessive osteopetrosis 1 by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (2):

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_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter)	rs1489993984	0.00001
NM_006019.4(TCIRG1):c.1718A>G (p.Glu573Gly)	rs576389893	0.00001
NM_006019.4(TCIRG1):c.196+1G>T	rs2134432498
NM_006019.4(TCIRG1):c.2415-2_2418delinsGGGTT

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