List of variants in gene CLCN1 reported as benign by Invitae

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: 30

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.352G>T (p.Gly118Trp)	rs10282312	0.98349
NM_000083.3(CLCN1):c.2154C>T (p.Asp718=)	rs2272251	0.44456
NM_000083.3(CLCN1):c.1402-9C>T	rs2272252	0.44267
NM_000083.3(CLCN1):c.2180C>T (p.Pro727Leu)	rs13438232	0.39778
NM_000083.3(CLCN1):c.261C>T (p.Thr87=)	rs6962852	0.37404
NM_000083.3(CLCN1):c.1401+17T>C	rs7794560	0.14458
NM_000083.3(CLCN1):c.2244G>A (p.Leu748=)	rs78085922	0.01785
NM_000083.3(CLCN1):c.2284+5C>T	rs74824159	0.01735
NM_000083.3(CLCN1):c.352= (p.Gly118=)	rs10282312	0.01651
NM_000083.3(CLCN1):c.461A>G (p.Gln154Arg)	rs111482384	0.01028
NM_000083.3(CLCN1):c.450C>T (p.Tyr150=)	rs56307536	0.00935
NM_000083.3(CLCN1):c.1309G>A (p.Ala437Thr)	rs41276054	0.00927
NM_000083.3(CLCN1):c.2136T>C (p.Asp712=)	rs73726622	0.00916
NM_000083.3(CLCN1):c.1797-9C>T	rs41276057	0.00913
NM_000083.3(CLCN1):c.1065-16T>C	rs113764654	0.00833
NM_000083.3(CLCN1):c.302-4C>T	rs113839156	0.00780
NM_000083.3(CLCN1):c.26G>A (p.Arg9His)	rs115379077	0.00775
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)	rs118066140	0.00457
NM_000083.3(CLCN1):c.663G>A (p.Ala221=)	rs147317366	0.00424
NM_000083.3(CLCN1):c.316C>G (p.Leu106Val)	rs145517198	0.00313
NM_000083.3(CLCN1):c.651C>T (p.Val217=)	rs144109732	0.00155
NM_000083.3(CLCN1):c.1815T>C (p.Val605=)	rs141945240	0.00087
NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile)	rs139757692	0.00060
NM_000083.3(CLCN1):c.804G>A (p.Thr268=)	rs141521078	0.00021
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp)	rs185031797	0.00015
NM_000083.3(CLCN1):c.2544C>T (p.Leu848=)	rs140111476	0.00008
NM_000083.3(CLCN1):c.2875A>G (p.Ser959Gly)	rs779694767	0.00007
NM_000083.3(CLCN1):c.853+17del
NM_000083.3(CLCN1):c.853+17dup
NM_000083.3(CLCN1):c.853+23dup

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