List of variants in gene CLCN1 reported by GeneReviews

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)	rs55960271	0.00561
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter)	rs142539932	0.00070
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu)	rs80356706	0.00035
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)	rs774843953	0.00003
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met)	rs762754992	0.00002
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val)	rs80356704	0.00001
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg)	rs80356696	0.00001
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met)	rs80356691	0.00001
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)	rs80356702	0.00001
NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu)	rs80356694
NM_000083.3(CLCN1):c.2330del (p.Gly777fs)	rs80356707
NM_000083.3(CLCN1):c.382A>G (p.Met128Val)	rs80356699
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)	rs80356700
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)	rs80356690

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