ClinVar Miner

List of variants in gene IGHMBP2 studied for Distal spinal muscular atrophy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167 0.00008
NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys) rs201563456 0.00004
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter) rs200089714 0.00003
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927 0.00002
NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639 0.00002
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714 0.00001
NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter) rs1479493690 0.00001
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750 0.00001
NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431 0.00001
NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr) rs761789207 0.00001
NM_002180.3(IGHMBP2):c.1060+1G>T rs1366461184
NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys) rs776730737
NM_002180.3(IGHMBP2):c.121del (p.Gln41fs) rs1332319177
NM_002180.3(IGHMBP2):c.1235+3A>G rs1369278472
NM_002180.3(IGHMBP2):c.1277T>C (p.Leu426Pro) rs1555247218
NM_002180.3(IGHMBP2):c.1325A>G (p.Tyr442Cys) rs1594451320
NM_002180.3(IGHMBP2):c.1334A>C (p.His445Pro) rs571142182
NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter) rs372181708
NM_002180.3(IGHMBP2):c.1415T>C (p.Leu472Pro) rs1594451536
NM_002180.3(IGHMBP2):c.1648_1649insG (p.Gln550fs) rs1594454167
NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter) rs1000091588
NM_002180.3(IGHMBP2):c.1743A>C (p.Arg581Ser) rs1594454382
NM_002180.3(IGHMBP2):c.1748A>T (p.Asn583Ile) rs1594454388
NM_002180.3(IGHMBP2):c.1756G>T (p.Gly586Cys) rs56052951
NM_002180.3(IGHMBP2):c.1807C>T (p.Arg603Cys) rs1465803265
NM_002180.3(IGHMBP2):c.1877del (p.Leu626fs) rs1594455576
NM_002180.3(IGHMBP2):c.1969C>T (p.Gln657Ter) rs866417417
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs) rs750994603
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002180.3(IGHMBP2):c.50T>C (p.Leu17Pro) rs1594412120
NM_002180.3(IGHMBP2):c.616C>T (p.Gln206Ter) rs1594422624
NM_002180.3(IGHMBP2):c.647C>T (p.Pro216Leu) rs1594422676
NM_002180.3(IGHMBP2):c.661A>G (p.Thr221Ala) rs1594422709
NM_002180.3(IGHMBP2):c.661del (p.Thr221fs) rs779716706
NM_002180.3(IGHMBP2):c.721T>C (p.Cys241Arg) rs1594427373
NM_002180.3(IGHMBP2):c.752T>C (p.Leu251Pro) rs1594427489
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter) rs557416644

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.