List of variants in gene CLCN7 reported as pathogenic for autosomal recessive osteopetrosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln)	rs760956030	0.00004
NM_001287.6(CLCN7):c.1561G>A (p.Gly521Arg)	rs368190250	0.00001
NM_001287.6(CLCN7):c.1617+119G>A	rs922106856
NM_001287.6(CLCN7):c.1663C>T (p.Gln555Ter)	rs121434432
NM_001287.6(CLCN7):c.2250+1G>T	rs1567263375
NM_001287.6(CLCN7):c.2285G>A (p.Arg762Gln)	rs121434433
NM_001287.6(CLCN7):c.2297T>C (p.Leu766Pro)	rs121434434
NM_001287.6(CLCN7):c.2385_2386del (p.Gly796fs)	rs2142364275
NM_001287.6(CLCN7):c.781A>T (p.Ile261Phe)	rs121434436
NM_001287.6(CLCN7):c.892dup (p.Ser298fs)

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