ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive osteopetrosis 4 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001287.6(CLCN7):c.913G>A (p.Val305Met)	rs558354107	0.00001
NM_001287.6(CLCN7):c.1637A>G (p.Lys546Arg)	rs2505816613
NM_001287.6(CLCN7):c.629A>G (p.Lys210Arg)	rs2505840341

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