List of variants in gene CLCN1 reported as benign for Batten-Turner congenital myopathy

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: 28

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.2154C>T (p.Asp718=)	rs2272251	0.44574
NM_000083.3(CLCN1):c.1402-9C>T	rs2272252	0.43982
NM_000083.3(CLCN1):c.2180C>T (p.Pro727Leu)	rs13438232	0.39795
NM_000083.3(CLCN1):c.261C>T (p.Thr87=)	rs6962852	0.37404
NM_000083.3(CLCN1):c.-21C>T	rs34904831	0.04948
NM_000083.3(CLCN1):c.2284+5C>T	rs74824159	0.01735
NM_000083.3(CLCN1):c.2244G>A (p.Leu748=)	rs78085922	0.01719
NM_000083.3(CLCN1):c.461A>G (p.Gln154Arg)	rs111482384	0.00975
NM_000083.3(CLCN1):c.1309G>A (p.Ala437Thr)	rs41276054	0.00925
NM_000083.3(CLCN1):c.1797-9C>T	rs41276057	0.00913
NM_000083.3(CLCN1):c.450C>T (p.Tyr150=)	rs56307536	0.00885
NM_000083.3(CLCN1):c.2136T>C (p.Asp712=)	rs73726622	0.00855
NM_000083.3(CLCN1):c.26G>A (p.Arg9His)	rs115379077	0.00775
NM_000083.3(CLCN1):c.302-4C>T	rs113839156	0.00736
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln)	rs118066140	0.00465
NM_000083.3(CLCN1):c.663G>A (p.Ala221=)	rs147317366	0.00424
NM_000083.3(CLCN1):c.316C>G (p.Leu106Val)	rs145517198	0.00283
NM_000083.3(CLCN1):c.86A>C (p.His29Pro)	rs146160029	0.00231
NM_000083.3(CLCN1):c.1842G>C (p.Lys614Asn)	rs140205115	0.00187
NM_000083.3(CLCN1):c.651C>T (p.Val217=)	rs144109732	0.00145
NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile)	rs139757692	0.00080
NM_000083.3(CLCN1):c.1815T>C (p.Val605=)	rs141945240	0.00078
NM_000083.3(CLCN1):c.563-9C>T	rs201404573	0.00025
NM_000083.3(CLCN1):c.900G>A (p.Arg300=)	rs149578972	0.00023
NM_000083.3(CLCN1):c.804G>A (p.Thr268=)	rs141521078	0.00021
NM_000083.3(CLCN1):c.314G>A (p.Arg105His)	rs756353660	0.00016
NM_000083.3(CLCN1):c.2901C>T (p.Ala967=)	rs143082508	0.00006
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile)	rs762344462	0.00004

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