List of variants in gene CLCN7 reported as benign for Autosomal recessive osteopetrosis 4

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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.485-39A>C	rs2072950	0.72370
NM_001287.6(CLCN7):c.285+52C>A	rs2744994	0.59727
NM_001287.6(CLCN7):c.1884-35T>C	rs12597739	0.53608
NM_001287.6(CLCN7):c.1170A>T (p.Ala390=)	rs2235579	0.51407
NM_001287.6(CLCN7):c.981+133G>A	rs7190701	0.48855
NM_001287.6(CLCN7):c.2251-50G>A	rs12599176	0.41216
NM_001287.6(CLCN7):c.1618-49G>A	rs742408	0.37711
NM_001287.6(CLCN7):c.676-85G>A	rs8061743	0.19833
NM_001287.6(CLCN7):c.1448-43dup	rs61073146
NM_001287.6(CLCN7):c.676-86C>G	rs8060503

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