ClinVar Miner

List of variants studied for autosomal recessive osteopetrosis 4 by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (3):

Autosomal dominant osteopetrosis 2; Autosomal recessive osteopetrosis 4
Autosomal dominant osteopetrosis 2; Autosomal recessive osteopetrosis 4; Hypopigmentation, organomegaly, and delayed myelination and development
Autosomal recessive osteopetrosis 4

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

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001287.6(CLCN7):c.2284C>T (p.Arg762Trp)	rs1490598538	0.00001
NM_001287.6(CLCN7):c.1637A>G (p.Lys546Arg)
NM_001287.6(CLCN7):c.456_459del (p.Gly153fs)
NM_001287.6(CLCN7):c.629A>G (p.Lys210Arg)
NM_001287.6(CLCN7):c.913G>A (p.Val305Met)	rs558354107

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