List of variants in gene GJB1 reported as 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp)	rs863224973	0.00005
NM_000166.6(GJB1):c.415G>A (p.Val139Met)	rs104894812	0.00001
NM_000166.6(GJB1):c.514C>T (p.Pro172Ser)	rs104894811	0.00001
NM_000166.6(GJB1):c.-103C>T	rs863224971
NM_000166.6(GJB1):c.100A>G (p.Met34Val)	rs1569215061
NM_000166.6(GJB1):c.187G>A (p.Val63Ile)	rs116840818
NM_000166.6(GJB1):c.271G>A (p.Val91Met)	rs756928158
NM_000166.6(GJB1):c.283G>A (p.Val95Met)	rs104894821
NM_000166.6(GJB1):c.399G>A (p.Trp133Ter)	rs1602349302
NM_000166.6(GJB1):c.532G>A (p.Asp178Asn)	rs1555937223
NM_000166.6(GJB1):c.548G>A (p.Arg183His)	rs1555937233
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)	rs116840821
NM_000166.6(GJB1):c.556dup (p.Glu186fs)	rs1602349655
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser)	rs104894822
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys)	rs1555937270
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)	rs1555937020

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