List of variants in gene CLCN1 reported as uncertain significance 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.2364+10G>A	rs201855153	0.00098
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)	rs149729531	0.00075
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val)	rs146457619	0.00039
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys)	rs201509501	0.00014
NM_000083.3(CLCN1):c.637G>A (p.Val213Met)	rs756755417	0.00008
NM_000083.3(CLCN1):c.-59C>A
NM_000083.3(CLCN1):c.1730T>G (p.Leu577Arg)	rs2116373216
NM_000083.3(CLCN1):c.696G>A (p.Glu232=)	rs923380712
NM_000083.3(CLCN1):c.852A>G (p.Gly284=)	rs1417532624
NM_000083.3(CLCN1):c.980-3C>G	rs1802714707
NM_000083.3(CLCN1):c.983C>T (p.Thr328Ile)	rs780421370

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