List of variants in gene GJB2 reported as benign for ectodermal dysplasia syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.*1277T>C	rs7988691	0.99748
NM_004004.6(GJB2):c.*1152G>A	rs7623	0.89599
NM_004004.6(GJB2):c.*84T>C	rs3751385	0.73662
NM_004004.6(GJB2):c.-22-12C>T	rs9578260	0.07478
NM_004004.6(GJB2):c.*111C>T	rs7329857	0.06802
NM_004004.6(GJB2):c.*104A>T	rs7337074	0.06800
NC_000013.11:g.20187454C>T	rs11839674	0.04460
NM_004004.6(GJB2):c.*1197T>A	rs11841182	0.04451
NM_004004.6(GJB2):c.*168A>G	rs55704559	0.04011
NM_004004.6(GJB2):c.*931C>T	rs5030700	0.03992
NM_004004.6(GJB2):c.79G>A (p.Val27Ile)	rs2274084	0.02218
NM_004004.6(GJB2):c.-15C>T	rs72561725	0.01589
NM_004004.6(GJB2):c.-216T>G	rs574815423	0.01243
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)	rs2274083	0.00499
NM_004004.6(GJB2):c.-6T>A	rs148136545	0.00355
NM_004004.6(GJB2):c.*786G>A	rs187158699	0.00347
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)	rs111033186	0.00247
NM_004004.6(GJB2):c.*1016A>G	rs537683957	0.00158
NM_004004.6(GJB2):c.*3C>A	rs111033460	0.00155
NM_004004.6(GJB2):c.380G>A (p.Arg127His)	rs111033196	0.00143
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)	rs76838169	0.00129
NM_004004.6(GJB2):c.-22-2A>C	rs201895089	0.00056
NM_004004.6(GJB2):c.-22-6T>C	rs141962118	0.00044
NM_004004.6(GJB2):c.*1033G>A	rs185790172	0.00026
NM_004004.6(GJB2):c.510C>T (p.Asn170=)	rs763068053	0.00002
NM_004004.6(GJB2):c.*1067G>T	rs9237

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