List of variants in gene GJB2 reported as pathogenic by Athena Diagnostics

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: 41

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00966
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.-22-2A>C	rs201895089	0.00056
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.94C>T (p.Arg32Cys)	rs371024165	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.283G>A (p.Val95Met)	rs111033299	0.00008
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter)	rs397516874	0.00008
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.2T>C (p.Met1Thr)	rs371086981	0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)	rs80338950	0.00003
NM_004004.6(GJB2):c.407dup (p.Tyr136Ter)	rs771409330	0.00002
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)	rs771748289	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.31_68del (p.Gly11fs)	rs397516873	0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)	rs111033295	0.00001
NM_004004.5(GJB2):c.592_600delGTGTCTGGAins17 (p.?)
NM_004004.6(GJB2):c.139G>A (p.Glu47Lys)
NM_004004.6(GJB2):c.176_191del (p.Gly59fs)	rs750188782
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>A (p.Val84Met)	rs104894409
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)	rs104894409
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)	rs111033253
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.35dup (p.Val13fs)	rs80338939
NM_004004.6(GJB2):c.51_62delinsA (p.Thr18fs)	rs886037624
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)	rs80338950
NM_004004.6(GJB2):c.576del (p.Val193fs)	rs747847191
NM_004004.6(GJB2):c.95G>A (p.Arg32His)	rs111033190

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