ClinVar Miner

List of variants reported as likely benign for cataract 1 multiple types by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005267.5(GJA8):c.658A>G (p.Asn220Asp) rs138140155 0.00229
NM_005267.5(GJA8):c.893A>G (p.Asn298Ser) rs142376567 0.00163
NM_005267.5(GJA8):c.19C>A (p.Leu7Met) rs150441169 0.00083
NM_005267.5(GJA8):c.385G>A (p.Val129Ile) rs142415337 0.00070
NM_005267.5(GJA8):c.994G>A (p.Glu332Lys) rs143688085 0.00048
NM_005267.5(GJA8):c.439C>T (p.Leu147=) rs145974798 0.00037
NM_005267.5(GJA8):c.477C>T (p.Thr159=) rs782140553 0.00003
NM_005267.5(GJA8):c.117G>A (p.Thr39=) rs955467208 0.00001
NM_005267.5(GJA8):c.426G>A (p.Arg142=) rs782313023 0.00001
NM_005267.5(GJA8):c.756C>T (p.Leu252=) rs371651011 0.00001
NM_005267.5(GJA8):c.933C>T (p.Asp311=) rs587747861 0.00001
NM_005267.5(GJA8):c.1272C>T (p.Ser424=) rs2149016663
NM_005267.5(GJA8):c.150C>T (p.Ser50=) rs1651877831
NM_005267.5(GJA8):c.180C>T (p.Gly60=) rs375604355
NM_005267.5(GJA8):c.264G>C (p.Pro88=) rs1227166611
NM_005267.5(GJA8):c.270G>C (p.Leu90=) rs1651886484
NM_005267.5(GJA8):c.333G>A (p.Ala111=)
NM_005267.5(GJA8):c.405C>T (p.Ser135=)
NM_005267.5(GJA8):c.528G>T (p.Arg176=) rs1236129318
NM_005267.5(GJA8):c.978G>A (p.Val326=) rs1483268829

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.