List of variants in gene GJB1 reported as uncertain significance 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_000166.6(GJB1):c.689G>T (p.Arg230Leu)	rs780335726	0.00003
NM_000166.6(GJB1):c.-17G>C	rs1555935794
NM_000166.6(GJB1):c.139G>A (p.Glu47Lys)	rs2092542839
NM_000166.6(GJB1):c.183C>A (p.Asn61Lys)	rs1364055284
NM_000166.6(GJB1):c.257C>A (p.Thr86Asn)	rs1602349017
NM_000166.6(GJB1):c.329G>A (p.Gly110Asp)	rs1555937145
NM_000166.6(GJB1):c.439G>T (p.Ala147Ser)
NM_000166.6(GJB1):c.668G>A (p.Arg223His)	rs1218391757
NM_000166.6(GJB1):c.689G>A (p.Arg230His)	rs780335726
NM_001097642.3(GJB1):c.-16-580T>G	rs2147944267

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