List of variants in gene GJB1 reported as uncertain significance by Athena Diagnostics Inc

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

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000166.6(GJB1):c.497T>G (p.Val166Gly)	rs199626569	0.00109
NM_000166.6(GJB1):c.-101C>T	rs961829342	0.00008
NM_000166.6(GJB1):c.297A>G (p.Gln99=)	rs1213746899	0.00003
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu)	rs780335726	0.00003
NM_000166.6(GJB1):c.830G>A (p.Ser277Asn)	rs748095080	0.00003
NM_000166.6(GJB1):c.-27C>T	rs879254157	0.00002
NM_000166.6(GJB1):c.699G>A (p.Ser233=)	rs769112084	0.00002
NM_000166.6(GJB1):c.793C>T (p.Arg265Cys)	rs1324941945	0.00001
NM_000166.6(GJB1):c.-17+10C>A	rs2092541241
NM_000166.6(GJB1):c.-45G>T
NM_000166.6(GJB1):c.109G>T (p.Val37Leu)	rs1057518946
NM_000166.6(GJB1):c.118G>A (p.Ala40Thr)	rs1602348782
NM_000166.6(GJB1):c.147T>C (p.Ser49=)	rs2092542885
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro)	rs913934445
NM_000166.6(GJB1):c.149C>G (p.Ser50Cys)	rs2092542910
NM_000166.6(GJB1):c.176G>A (p.Gly59Asp)
NM_000166.6(GJB1):c.192C>G (p.Cys64Trp)	rs2147945443
NM_000166.6(GJB1):c.268C>A (p.Leu90Ile)	rs1299325261
NM_000166.6(GJB1):c.26T>C (p.Leu9Ser)	rs1569214971
NM_000166.6(GJB1):c.271G>C (p.Val91Leu)	rs756928158
NM_000166.6(GJB1):c.299A>T (p.His100Leu)	rs1602349133
NM_000166.6(GJB1):c.364_372del (p.Arg122_Lys124del)	rs1555937156
NM_000166.6(GJB1):c.386G>A (p.Gly129Glu)	rs1602349280
NM_000166.6(GJB1):c.389C>T (p.Thr130Ile)	rs1602349283
NM_000166.6(GJB1):c.533A>G (p.Asp178Gly)	rs1555937224
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1])	rs116840823
NM_000166.6(GJB1):c.571A>T (p.Thr191Ser)	rs1555937248
NM_000166.6(GJB1):c.574G>T (p.Val192Phe)	rs771579861
NM_000166.6(GJB1):c.592T>C (p.Ser198Pro)	rs1555937259
NM_000166.6(GJB1):c.617T>G (p.Val206Gly)	rs1569215431
NM_000166.6(GJB1):c.629T>A (p.Val210Glu)	rs1555937274
NM_000166.6(GJB1):c.713G>T (p.Arg238Leu)	rs776206757
NM_000166.6(GJB1):c.7T>C (p.Trp3Arg)	rs1602348537

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.