List of variants in gene CLCN5 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001127898.4(CLCN5):c.316-17T>G	rs56117808	0.00404
NM_001127898.4(CLCN5):c.*6240G>C	rs782177733	0.00073
NM_001127898.4(CLCN5):c.926G>A (p.Arg309His)	rs147798092	0.00015
NM_001127898.4(CLCN5):c.925C>T (p.Arg309Cys)	rs782056386	0.00006
NM_001127898.4(CLCN5):c.1244G>A (p.Arg415Gln)	rs190451218	0.00005
NM_001127898.4(CLCN5):c.1426C>T (p.Arg476Cys)	rs782540790	0.00005
NM_001127898.4(CLCN5):c.1354A>G (p.Ser452Gly)
NM_001127898.4(CLCN5):c.594C>G (p.Ser198Arg)

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