ClinVar Miner

List of variants reported as likely benign for Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 126
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_058246.4(DNAJB6):c.279C>T (p.Phe93=) rs149278319 0.00191
NM_058246.4(DNAJB6):c.961T>C (p.Ser321Pro) rs147168661 0.00159
NM_058246.4(DNAJB6):c.962C>T (p.Ser321Leu) rs142974468 0.00068
NM_058246.4(DNAJB6):c.48C>T (p.Pro16=) rs150583876 0.00038
NM_058246.4(DNAJB6):c.706G>A (p.Asp236Asn) rs556999563 0.00017
NM_058246.4(DNAJB6):c.410C>T (p.Thr137Met) rs149027078 0.00014
NM_058246.4(DNAJB6):c.621-18T>A rs200755236 0.00011
NM_058246.4(DNAJB6):c.342C>A (p.Phe114Leu) rs373354100 0.00008
NM_058246.4(DNAJB6):c.837G>A (p.Glu279=) rs773414936 0.00007
NM_058246.4(DNAJB6):c.346+13C>T rs749252793 0.00006
NM_058246.4(DNAJB6):c.432C>T (p.Phe144=) rs766637787 0.00006
NM_058246.4(DNAJB6):c.564C>T (p.Phe188=) rs145897776 0.00006
NM_058246.4(DNAJB6):c.633C>T (p.Asn211=) rs376405451 0.00006
NM_058246.4(DNAJB6):c.276A>G (p.Thr92=) rs765815570 0.00004
NM_058246.4(DNAJB6):c.347-14A>T rs368036062 0.00004
NM_058246.4(DNAJB6):c.404G>A (p.Arg135Gln) rs772121051 0.00004
NM_058246.4(DNAJB6):c.510G>A (p.Gly170=) rs548325183 0.00004
NM_058246.4(DNAJB6):c.692-16C>T rs942589575 0.00004
NM_058246.4(DNAJB6):c.777G>A (p.Pro259=) rs568868210 0.00004
NM_058246.4(DNAJB6):c.479-5T>C rs759259870 0.00003
NM_058246.4(DNAJB6):c.899-13C>T rs374432835 0.00003
NM_058246.4(DNAJB6):c.114T>C (p.Asn38=) rs763596817 0.00002
NM_058246.4(DNAJB6):c.459A>C (p.Gly153=) rs765102730 0.00002
NM_058246.4(DNAJB6):c.57T>C (p.Ile19=) rs748568044 0.00002
NM_058246.4(DNAJB6):c.603A>G (p.Arg201=) rs751462114 0.00002
NM_058246.4(DNAJB6):c.699C>T (p.Ala233=) rs1200217329 0.00002
NM_058246.4(DNAJB6):c.69T>C (p.Tyr23=) rs759652351 0.00002
NM_058246.4(DNAJB6):c.816G>A (p.Ala272=) rs762611514 0.00002
NM_058246.4(DNAJB6):c.885C>G (p.Leu295=) rs758663546 0.00002
NM_058246.4(DNAJB6):c.938G>A (p.Arg313Lys) rs763185312 0.00002
NM_058246.4(DNAJB6):c.156A>G (p.Ala52=) rs201239906 0.00001
NM_058246.4(DNAJB6):c.171G>A (p.Ser57=) rs771439631 0.00001
NM_058246.4(DNAJB6):c.235+9G>A rs552613359 0.00001
NM_058246.4(DNAJB6):c.235+9G>T rs552613359 0.00001
NM_058246.4(DNAJB6):c.235+9del rs1438023163 0.00001
NM_058246.4(DNAJB6):c.258A>G (p.Pro86=) rs754329370 0.00001
NM_058246.4(DNAJB6):c.333A>G (p.Ser111=) rs893593114 0.00001
NM_058246.4(DNAJB6):c.397A>C (p.Arg133=) rs1352437093 0.00001
NM_058246.4(DNAJB6):c.411G>A (p.Thr137=) rs749714667 0.00001
NM_058246.4(DNAJB6):c.438A>C (p.Gly146=) rs112310856 0.00001
NM_058246.4(DNAJB6):c.444G>A (p.Pro148=) rs754826358 0.00001
NM_058246.4(DNAJB6):c.534G>A (p.Thr178=) rs779353985 0.00001
NM_058246.4(DNAJB6):c.621-7C>A rs374393229 0.00001
NM_058246.4(DNAJB6):c.65+17C>A rs532279031 0.00001
NM_058246.4(DNAJB6):c.66-9C>G rs371791420 0.00001
NM_058246.4(DNAJB6):c.684A>G (p.Thr228=) rs747995580 0.00001
NM_058246.4(DNAJB6):c.692-6C>T rs1259833520 0.00001
NM_058246.4(DNAJB6):c.705C>T (p.Asp235=) rs1364905222 0.00001
NM_058246.4(DNAJB6):c.723G>A (p.Glu241=) rs886062129 0.00001
NM_058246.4(DNAJB6):c.748C>T (p.Leu250=) rs1251793083 0.00001
NM_058246.4(DNAJB6):c.765C>T (p.Ala255=) rs746862001 0.00001
NM_058246.4(DNAJB6):c.798C>T (p.Ala266=) rs775087124 0.00001
NM_058246.4(DNAJB6):c.801G>A (p.Ser267=) rs1252030610 0.00001
NM_058246.4(DNAJB6):c.813C>T (p.His271=) rs1238123023 0.00001
NM_058246.4(DNAJB6):c.867C>T (p.Pro289=) rs759621937 0.00001
NM_058246.4(DNAJB6):c.891C>T (p.Ser297=) rs886043951 0.00001
NM_058246.4(DNAJB6):c.898+20C>T rs751300998 0.00001
NM_058246.4(DNAJB6):c.899-5C>T rs1347168619 0.00001
NM_058246.4(DNAJB6):c.135A>G (p.Lys45=)
NM_058246.4(DNAJB6):c.165G>A (p.Val55=)
NM_058246.4(DNAJB6):c.166C>T (p.Leu56=) rs1584901397
NM_058246.4(DNAJB6):c.175+13G>A rs376421671
NM_058246.4(DNAJB6):c.176-11T>A rs1799851119
NM_058246.4(DNAJB6):c.177T>C (p.Ala59=) rs1407422617
NM_058246.4(DNAJB6):c.183A>G (p.Lys61=)
NM_058246.4(DNAJB6):c.189C>T (p.Asp63=)
NM_058246.4(DNAJB6):c.204T>C (p.Tyr68=)
NM_058246.4(DNAJB6):c.219A>G (p.Leu73=)
NM_058246.4(DNAJB6):c.21T>G (p.Val7=) rs2116948761
NM_058246.4(DNAJB6):c.235+12A>G
NM_058246.4(DNAJB6):c.235+13G>A
NM_058246.4(DNAJB6):c.235+18T>G
NM_058246.4(DNAJB6):c.235+20C>G
NM_058246.4(DNAJB6):c.235+20C>T
NM_058246.4(DNAJB6):c.235+8C>T rs377327513
NM_058246.4(DNAJB6):c.236-17G>A
NM_058246.4(DNAJB6):c.236-9T>C
NM_058246.4(DNAJB6):c.27C>T (p.Gly9=)
NM_058246.4(DNAJB6):c.346+11C>T
NM_058246.4(DNAJB6):c.346+19T>A
NM_058246.4(DNAJB6):c.347-12_347-6del rs1800820690
NM_058246.4(DNAJB6):c.408G>C (p.Gly136=)
NM_058246.4(DNAJB6):c.428C>T (p.Ala143Val) rs757767434
NM_058246.4(DNAJB6):c.429G>A (p.Ala143=) rs150709673
NM_058246.4(DNAJB6):c.479-10T>G rs886042415
NM_058246.4(DNAJB6):c.479-14C>T
NM_058246.4(DNAJB6):c.48C>G (p.Pro16=)
NM_058246.4(DNAJB6):c.513C>A (p.Gly171=) rs886044069
NM_058246.4(DNAJB6):c.567A>G (p.Lys189=) rs2117090468
NM_058246.4(DNAJB6):c.620+16G>C
NM_058246.4(DNAJB6):c.620+17C>T
NM_058246.4(DNAJB6):c.621-16A>T
NM_058246.4(DNAJB6):c.621-18T>G
NM_058246.4(DNAJB6):c.621-4A>G rs927500992
NM_058246.4(DNAJB6):c.636T>G (p.Gly212=)
NM_058246.4(DNAJB6):c.639A>G (p.Gln213=)
NM_058246.4(DNAJB6):c.63G>A (p.Lys21=) rs886042682
NM_058246.4(DNAJB6):c.65+9T>C
NM_058246.4(DNAJB6):c.657A>G (p.Glu219=) rs2117093477
NM_058246.4(DNAJB6):c.66-12A>G rs1799687292
NM_058246.4(DNAJB6):c.66-16C>T
NM_058246.4(DNAJB6):c.66-5C>A rs1563122846
NM_058246.4(DNAJB6):c.678C>T (p.Ser226=) rs768446425
NM_058246.4(DNAJB6):c.691+18C>T
NM_058246.4(DNAJB6):c.691+19G>A rs199612810
NM_058246.4(DNAJB6):c.691+8G>A rs2117093713
NM_058246.4(DNAJB6):c.691+9C>A
NM_058246.4(DNAJB6):c.692-13G>A
NM_058246.4(DNAJB6):c.692-14C>T
NM_058246.4(DNAJB6):c.692-6C>G rs1259833520
NM_058246.4(DNAJB6):c.702C>T (p.Asp234=) rs568383912
NM_058246.4(DNAJB6):c.744C>T (p.Asn248=)
NM_058246.4(DNAJB6):c.747C>T (p.Ala249=)
NM_058246.4(DNAJB6):c.75A>G (p.Lys25=) rs2116973715
NM_058246.4(DNAJB6):c.765C>A (p.Ala255=) rs746862001
NM_058246.4(DNAJB6):c.801G>T (p.Ser267=) rs1252030610
NM_058246.4(DNAJB6):c.822C>T (p.His274=)
NM_058246.4(DNAJB6):c.825T>C (p.Cys275=) rs1034901113
NM_058246.4(DNAJB6):c.845A>T (p.Glu282Val)
NM_058246.4(DNAJB6):c.882C>A (p.Pro294=) rs2116651082
NM_058246.4(DNAJB6):c.885C>T (p.Leu295=)
NM_058246.4(DNAJB6):c.898+10G>A rs1795917456
NM_058246.4(DNAJB6):c.898+15G>T
NM_058246.4(DNAJB6):c.898+17A>G
NM_058246.4(DNAJB6):c.899-12G>A rs779492467
NM_058246.4(DNAJB6):c.951G>A (p.Lys317=)

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.