List of variants in gene GJC2 reported as pathogenic by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_020435.4(GJC2):c.17G>A (p.Trp6Ter)	rs878853083	0.00002
NM_020435.4(GJC2):c.970_971dup (p.Ala325fs)	rs1085307499	0.00001
NM_020435.4(GJC2):c.282C>G (p.Tyr94Ter)
NM_020435.4(GJC2):c.790A>T (p.Lys264Ter)

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