List of variants in gene GJB2 reported as pathogenic by Fulgent Genetics,Fulgent Genetics

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: 15

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HGVS	dbSNP
NM_004004.6(GJB2):c.-23+1G>A	rs80338940
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	rs104894413
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)	rs104894398
NM_004004.6(GJB2):c.1A>G (p.Met1Val)	rs111033293
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)	rs80338944
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	rs80338945
NM_004004.6(GJB2):c.283G>A (p.Val95Met)	rs111033299
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)	rs727503066
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	rs76434661
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	rs80338948
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)	rs774518779
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	rs80338950
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	rs111033294
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	rs104894396
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)	rs371024165

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