List of variants in gene GJB1 reported as uncertain significance for not provided

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: 48

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HGVS	dbSNP	gnomAD frequency
NM_000166.6(GJB1):c.-101C>T	rs961829342	0.00008
NM_000166.6(GJB1):c.637A>G (p.Ile213Val)	rs753503984	0.00004
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.14G>T (p.Gly5Val)	rs1064793139	0.00001
NM_000166.6(GJB1):c.320G>A (p.Arg107Gln)	rs1383588318	0.00001
NM_000166.6(GJB1):c.527C>T (p.Thr176Ile)	rs1273640670	0.00001
NM_000166.6(GJB1):c.655C>T (p.Arg219Cys)	rs144381053	0.00001
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.-17G>C	rs1555935794
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.139G>A (p.Glu47Lys)	rs2092542839
NM_000166.6(GJB1):c.147T>C (p.Ser49=)	rs2092542885
NM_000166.6(GJB1):c.149C>G (p.Ser50Cys)	rs2092542910
NM_000166.6(GJB1):c.152T>C (p.Phe51Ser)	rs1602348850
NM_000166.6(GJB1):c.173C>G (p.Pro58Arg)	rs1602348876
NM_000166.6(GJB1):c.176G>A (p.Gly59Asp)
NM_000166.6(GJB1):c.183C>A (p.Asn61Lys)	rs1364055284
NM_000166.6(GJB1):c.192C>G (p.Cys64Trp)	rs2147945443
NM_000166.6(GJB1):c.257C>A (p.Thr86Asn)	rs1602349017
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.299A>T (p.His100Leu)	rs1602349133
NM_000166.6(GJB1):c.329G>A (p.Gly110Asp)	rs1555937145
NM_000166.6(GJB1):c.376C>T (p.His126Tyr)	rs879253995
NM_000166.6(GJB1):c.380T>A (p.Ile127Asn)	rs1602349258
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.439G>T (p.Ala147Ser)
NM_000166.6(GJB1):c.448A>G (p.Met150Val)	rs2147946197
NM_000166.6(GJB1):c.493C>G (p.Leu165Val)	rs2147946331
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1])	rs116840823
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.658C>G (p.Arg220Gly)	rs104894814
NM_000166.6(GJB1):c.659G>A (p.Arg220Gln)	rs1057524799
NM_000166.6(GJB1):c.668G>A (p.Arg223His)	rs1218391757
NM_000166.6(GJB1):c.689G>A (p.Arg230His)	rs780335726
NM_000166.6(GJB1):c.713G>T (p.Arg238Leu)	rs776206757
NM_000166.6(GJB1):c.728A>G (p.Tyr243Cys)	rs2147947218
NM_000166.6(GJB1):c.7T>C (p.Trp3Arg)	rs1602348537
NM_001097642.3(GJB1):c.-16-523_-16-519delinsCAAGT	rs1131691690
NM_001097642.3(GJB1):c.-16-524C>G	rs1060501001
NM_001097642.3(GJB1):c.-16-580T>G	rs2147944267

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