ClinVar Miner

List of variants in gene LARGE1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=) rs74550830 0.00224
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=) rs113253213 0.00174
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=) rs144216539 0.00100
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=) rs141089495 0.00070
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys) rs116164106 0.00057
NM_133642.5(LARGE1):c.535G>A (p.Glu179Lys) rs370128137 0.00026
NM_133642.5(LARGE1):c.1577G>A (p.Arg526His) rs536420427 0.00013
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=) rs12627793 0.00012
NM_133642.5(LARGE1):c.1791C>T (p.Phe597=) rs369773678 0.00010
NM_133642.5(LARGE1):c.432C>T (p.Cys144=) rs201977889 0.00009
NM_133642.5(LARGE1):c.252C>T (p.Ser84=) rs56202589 0.00006
NM_133642.5(LARGE1):c.417C>T (p.His139=) rs115575249 0.00003
NM_133642.5(LARGE1):c.1785C>T (p.Pro595=) rs751341620 0.00002
NM_133642.5(LARGE1):c.1416G>A (p.Thr472=) rs755991003 0.00001
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=) rs372629986 0.00001
NM_133642.5(LARGE1):c.1902C>T (p.His634=) rs754149838 0.00001
GRCh37/hg19 22q12.3(chr22:33960834-34046791)x1
GRCh37/hg19 22q12.3(chr22:33960834-34046791)x3
NM_133642.5(LARGE1):c.1159C>G (p.Leu387Val) rs2146571978
NM_133642.5(LARGE1):c.1314C>T (p.Asp438=)
NM_133642.5(LARGE1):c.1452-1058A>T
NM_133642.5(LARGE1):c.1775T>C (p.Met592Thr) rs1602229851
NM_133642.5(LARGE1):c.493C>T (p.Arg165Trp) rs765312193
NM_133642.5(LARGE1):c.550A>G (p.Thr184Ala)
NM_133642.5(LARGE1):c.690T>C (p.Thr230=) rs753562472
NM_133642.5(LARGE1):c.728C>G (p.Thr243Arg) rs1267359140
NM_133642.5(LARGE1):c.909T>G (p.Leu303=) rs563144239

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.