ClinVar Miner

List of variants in gene GJB1 studied for X-linked syndromic intellectual disability

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
Download table as spreadsheet
HGVS dbSNP
GJB1, -526G-C
GJB1, -528T-G
GJB1, 1-BP DEL
GJB1, 21-BP DUP
GJB1, 3-BP DEL, 304GAG
GJB1, 367G-T
NM_000166.5(GJB1):c.-103C>T rs863224971
NM_000166.5(GJB1):c.-16-2A>G rs751230398
NM_000166.5(GJB1):c.123G>C (p.Glu41Asp) rs116840816
NM_000166.5(GJB1):c.145T>C (p.Ser49Pro) rs116840817
NM_000166.5(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.5(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.5(GJB1):c.224G>A (p.Arg75Gln) rs863224972
NM_000166.5(GJB1):c.225delG (p.Leu76Cysfs) rs116840820
NM_000166.5(GJB1):c.259C>G (p.Pro87Ala) rs587777877
NM_000166.5(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.5(GJB1):c.394T>C (p.Trp132Arg)
NM_000166.5(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000166.5(GJB1):c.415G>A (p.Val139Met) rs104894812
NM_000166.5(GJB1):c.424C>T (p.Arg142Trp) rs104894810
NM_000166.5(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.5(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.5(GJB1):c.44G>A (p.Arg15Gln) rs863224974
NM_000166.5(GJB1):c.467T>G (p.Leu156Arg) rs104894818
NM_000166.5(GJB1):c.490C>T (p.Arg164Trp) rs139643362
NM_000166.5(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.5(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.5(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.5(GJB1):c.580A>G (p.Met194Val) rs587777878
NM_000166.5(GJB1):c.590C>T (p.Ala197Val)
NM_000166.5(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.5(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.5(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000166.5(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000166.5(GJB1):c.77C>T (p.Ser26Leu) rs587777876
NM_000166.5(GJB1):c.790C>T (p.Arg264Cys) rs587777879
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.254C>G (p.Ser85Cys) rs104894823
NM_001097642.2(GJB1):c.172C>T (p.Pro58Ser) rs483352926
NM_001097642.2(GJB1):c.194A>G (p.Tyr65Cys) rs104894819
NM_001097642.2(GJB1):c.319C>T (p.Arg107Trp) rs863224973
NM_001097642.2(GJB1):c.37G>T (p.Val13Leu) rs104894820
NM_001097642.2(GJB1):c.397T>C (p.Trp133Arg) rs104894813
NM_001097642.2(GJB1):c.514C>T (p.Pro172Ser) rs104894811
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe) rs116840823
NM_001097642.2(GJB1):c.89T>A (p.Ile30Asn) rs104894817

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.