List of variants in gene LGI1 reported as likely pathogenic for autosomal dominant epilepsy with auditory features

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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: 13

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HGVS	dbSNP	gnomAD frequency
NC_000010.10:g.(?_95549836)_(95549947_?)del
NM_005097.4(LGI1):c.1095del (p.Asn365fs)	rs2134026453
NM_005097.4(LGI1):c.1418C>T (p.Ser473Leu)	rs797044999
NM_005097.4(LGI1):c.1421G>A (p.Arg474Gln)	rs1064794249
NM_005097.4(LGI1):c.1580_1581del (p.His527fs)	rs1364913665
NM_005097.4(LGI1):c.187del (p.Arg63fs)
NM_005097.4(LGI1):c.215+2T>A	rs2059586444
NM_005097.4(LGI1):c.287+1G>A	rs2059593242
NM_005097.4(LGI1):c.4G>T (p.Glu2Ter)	rs2059583625
NM_005097.4(LGI1):c.504-1G>T	rs1564851314
NM_005097.4(LGI1):c.504-9_505del	rs2134020777
NM_005097.4(LGI1):c.682_683del (p.Lys228fs)
NM_005097.4(LGI1):c.701_702dup (p.Gln235fs)

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