List of variants in gene CLCN1 reported as likely pathogenic 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.1167-10T>C	rs543120965	0.00004
NM_000083.3(CLCN1):c.1642G>A (p.Glu548Lys)	rs546411827	0.00002
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter)	rs759761559
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys)	rs756199349
NM_000083.3(CLCN1):c.1444_1449del (p.Gly482_Gly483del)	rs1554438053
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val)	rs2116373070
NM_000083.3(CLCN1):c.1796G>A (p.Ser599Asn)	rs1554438471
NM_000083.3(CLCN1):c.1886T>C (p.Leu629Pro)	rs1009716258
NM_000083.3(CLCN1):c.2528T>C (p.Leu843Pro)	rs1563090141
NM_000083.3(CLCN1):c.434-1_437del	rs1563074191

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