List of variants in gene GJB1 reported as likely pathogenic by Athena Diagnostics Inc

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu)	rs876661269
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)	rs104894824
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg)	rs1555937077
NM_000166.6(GJB1):c.44G>C (p.Arg15Pro)
NM_000166.6(GJB1):c.478T>C (p.Tyr160His)	rs1555937197
NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys)	rs1602349451
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu)	rs771022595
NM_000166.6(GJB1):c.541G>C (p.Val181Leu)	rs879253909
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys)	rs863224471
NM_000166.6(GJB1):c.559A>G (p.Lys187Glu)	rs1555937244
NM_000166.6(GJB1):c.602del (p.Cys201fs)	rs1569215424
NM_000166.6(GJB1):c.842dup (p.Ala282fs)	rs1569215591

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