ClinVar Miner

List of variants in gene GJB1 reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000166.6(GJB1):c.35del (p.Gly12fs)	rs2092542021
NM_000166.6(GJB1):c.508_551dup (p.Thr185fs)	rs2092545197
NM_000166.6(GJB1):c.541G>A (p.Val181Met)	rs879253909
NM_000166.6(GJB1):c.644G>C (p.Arg215Pro)	rs864622215

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