ClinVar Miner

List of variants in gene LARGE1 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_133642.5(LARGE1):c.435C>T (p.Ala145=) rs86487 0.39804
NM_133642.5(LARGE1):c.-63C>T rs16992986 0.09348
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=) rs17722172 0.04733
NM_133642.5(LARGE1):c.1731-24T>C rs73399532 0.03540
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_133642.5(LARGE1):c.576C>T (p.Pro192=) rs36002910 0.02334
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=) rs11913417 0.02196
NM_133642.5(LARGE1):c.309C>T (p.Ser103=) rs59349720 0.01920
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln) rs73399520 0.01853
NM_133642.5(LARGE1):c.165G>C (p.Thr55=) rs63446460 0.01465
NM_133642.5(LARGE1):c.552G>A (p.Thr184=) rs8142483 0.00887
NM_133642.5(LARGE1):c.2073+36C>T rs41302579 0.00883
NM_133642.5(LARGE1):c.1451+38C>T rs80016718 0.00792
NM_133642.5(LARGE1):c.-31G>A rs117199378 0.00694
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_133642.5(LARGE1):c.788-29A>G rs147579402 0.00569
NM_133642.5(LARGE1):c.892+50C>T rs62225294 0.00471
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala) rs34642406 0.00430
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=) rs74550830 0.00224
NM_133642.5(LARGE1):c.-83+63202T>G rs147343461 0.00215
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=) rs113253213 0.00174
NM_133642.5(LARGE1):c.-83+63246C>T rs142710671 0.00158
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=) rs115076367 0.00140
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile) rs150861748 0.00119
NM_133642.5(LARGE1):c.408+8G>A rs141818070 0.00103
NM_133642.5(LARGE1):c.893-17C>G rs139572378 0.00102
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=) rs144216539 0.00100
NM_133642.5(LARGE1):c.409-19C>T rs374692757 0.00041
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile) rs56239539 0.00027
NM_133642.5(LARGE1):c.492-11A>G rs142978441 0.00023
NM_133642.5(LARGE1):c.409-21C>T rs149859888 0.00021
NM_133642.5(LARGE1):c.2004G>A (p.Pro668=) rs368231947 0.00017
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.2213T>C (p.Met738Thr) rs776954687 0.00005
NM_133642.5(LARGE1):c.-82-19T>C rs768214949 0.00004
NM_133642.5(LARGE1):c.26G>A (p.Arg9Gln) rs763697782 0.00004
NM_133642.5(LARGE1):c.703C>T (p.Leu235=) rs376057149 0.00004
NM_133642.5(LARGE1):c.81T>A (p.Ile27=) rs145861048 0.00004
NM_133642.5(LARGE1):c.2208G>A (p.Gln736=) rs759427879 0.00003
NM_133642.5(LARGE1):c.-83+63195C>A rs1326085467 0.00002
NM_133642.5(LARGE1):c.1792G>A (p.Glu598Lys) rs144045461 0.00002
NM_133642.5(LARGE1):c.408+7G>A rs371246157 0.00002
NM_133642.5(LARGE1):c.492-8C>T rs764180554 0.00002
NM_133642.5(LARGE1):c.1451+12G>A rs1029660389 0.00001
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=) rs372629986 0.00001
NM_133642.5(LARGE1):c.1614C>T (p.Gly538=) rs749791648 0.00001
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr) rs398124184 0.00001
NM_133642.5(LARGE1):c.333C>T (p.Ser111=) rs746767821 0.00001
NM_133642.5(LARGE1):c.34T>C (p.Leu12=) rs1320102818 0.00001
NM_133642.5(LARGE1):c.717C>T (p.Ile239=) rs761927446 0.00001
NM_133642.5(LARGE1):c.787+14A>T rs776201139 0.00001
GRCh37/hg19 22q12.3(chr22:34109004-34227501)
GRCh37/hg19 22q12.3(chr22:34163354-34262390)
GRCh37/hg19 22q12.3(chr22:34220630-34281098)
NM_133642.5(LARGE1):c.-82-16_-82-15del rs1556032157
NM_133642.5(LARGE1):c.-83+63247G>A rs917246646
NM_133642.5(LARGE1):c.1452-28C>T rs76647066
NM_133642.5(LARGE1):c.16A>C (p.Arg6=) rs886038552
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile) rs576967464
NM_133642.5(LARGE1):c.2073+12G>T rs377566674
NM_133642.5(LARGE1):c.861A>G (p.Pro287=) rs1257326994

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.