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: 33

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00354
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	rs80338945	0.00066
NM_004004.6(GJB2):c.167del (p.Leu56fs)	rs80338942	0.00058
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)	rs76434661	0.00047
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)	rs80338948	0.00021
NM_004004.6(GJB2):c.-23+1G>A	rs80338940	0.00017
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	rs111033294	0.00016
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)	rs104894398	0.00013
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)	rs104894397	0.00011
NM_004004.6(GJB2):c.283G>A (p.Val95Met)	rs111033299	0.00008
NM_004004.6(GJB2):c.1A>G (p.Met1Val)	rs111033293	0.00004
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)	rs111033297	0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs)	rs111033204	0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)	rs111033217	0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)	rs773528125	0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	rs80338950	0.00003
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)	rs786204491	0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	rs104894396	0.00002
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)	rs104894413	0.00001
NM_004004.6(GJB2):c.269dup (p.Val91fs)	rs730880338	0.00001
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)	rs774518779	0.00001
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)	rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs)	rs80338943
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)	rs104894409
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)	rs756484720
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)	rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)	rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939
NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)	rs727503066
NM_004004.6(GJB2):c.576del (p.Val193fs)	rs747847191
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)	rs371024165
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)	rs111033190
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter)	rs111033401

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