ClinVar Miner

List of variants in gene IGHMBP2 reported as likely benign for Spinal muscular atrophy, distal, autosomal recessive, 1; Charcot-Marie-Tooth disease, axonal, type 2S

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 110
Download table as spreadsheet
HGVS dbSNP
NM_002180.2(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005
NM_002180.2(IGHMBP2):c.1032G>A (p.Ser344=) rs779452908
NM_002180.2(IGHMBP2):c.103A>G (p.Ile35Val) rs199586231
NM_002180.2(IGHMBP2):c.1060+10C>T rs200170825
NM_002180.2(IGHMBP2):c.1060+8G>T rs201147313
NM_002180.2(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146
NM_002180.2(IGHMBP2):c.1071C>T (p.Ala357=) rs755300047
NM_002180.2(IGHMBP2):c.1125C>T (p.Asp375=) rs140296831
NM_002180.2(IGHMBP2):c.1143C>T (p.Leu381=) rs145314949
NM_002180.2(IGHMBP2):c.1194G>A (p.Ala398=) rs745534850
NM_002180.2(IGHMBP2):c.1197C>T (p.Gly399=) rs377631839
NM_002180.2(IGHMBP2):c.1236-10C>T rs778515935
NM_002180.2(IGHMBP2):c.1236-6G>C rs201538340
NM_002180.2(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955
NM_002180.2(IGHMBP2):c.1398C>T (p.Ser466=) rs147477786
NM_002180.2(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907
NM_002180.2(IGHMBP2):c.1482C>T (p.Ala494=) rs773180915
NM_002180.2(IGHMBP2):c.1515C>T (p.Asp505=) rs538496164
NM_002180.2(IGHMBP2):c.1603A>G (p.Ile535Val) rs140221316
NM_002180.2(IGHMBP2):c.165G>C (p.Gln55His) rs201692151
NM_002180.2(IGHMBP2):c.1669C>G (p.Pro557Ala) rs7122089
NM_002180.2(IGHMBP2):c.1737C>T (p.Phe579=) rs368775789
NM_002180.2(IGHMBP2):c.1749C>T (p.Asn583=) rs922075405
NM_002180.2(IGHMBP2):c.1844G>A (p.Arg615His) rs201640213
NM_002180.2(IGHMBP2):c.1845T>A (p.Arg615=) rs370850999
NM_002180.2(IGHMBP2):c.1848T>C (p.Thr616=) rs1164401206
NM_002180.2(IGHMBP2):c.1932C>T (p.Asp644=) rs769397483
NM_002180.2(IGHMBP2):c.1938T>C (p.Ile646=) rs1555247978
NM_002180.2(IGHMBP2):c.1998C>T (p.Pro666=) rs1308205831
NM_002180.2(IGHMBP2):c.2022G>A (p.Arg674=) rs111366439
NM_002180.2(IGHMBP2):c.2026G>A (p.Gly676Arg) rs149577588
NM_002180.2(IGHMBP2):c.2139C>T (p.Asn713=) rs199879444
NM_002180.2(IGHMBP2):c.2157A>G (p.Gly719=) rs774145467
NM_002180.2(IGHMBP2):c.2176G>A (p.Val726Met) rs143986510
NM_002180.2(IGHMBP2):c.222C>T (p.Ser74=) rs139237340
NM_002180.2(IGHMBP2):c.2260G>A (p.Asp754Asn) rs200499838
NM_002180.2(IGHMBP2):c.2286C>T (p.Ala762=) rs149684358
NM_002180.2(IGHMBP2):c.2355G>A (p.Arg785=) rs147954772
NM_002180.2(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765
NM_002180.2(IGHMBP2):c.2369G>A (p.Arg790Gln) rs147038490
NM_002180.2(IGHMBP2):c.2467C>T (p.Arg823Cys) rs192806153
NM_002180.2(IGHMBP2):c.2499G>A (p.Leu833=) rs371840404
NM_002180.2(IGHMBP2):c.2532G>T (p.Ala844=) rs2228207
NM_002180.2(IGHMBP2):c.2545G>A (p.Ala849Thr) rs2228208
NM_002180.2(IGHMBP2):c.2611+7C>T rs1343219004
NM_002180.2(IGHMBP2):c.2618C>T (p.Pro873Leu) rs141903179
NM_002180.2(IGHMBP2):c.2643G>A (p.Glu881=) rs374950193
NM_002180.2(IGHMBP2):c.2668G>A (p.Ala890Thr) rs138607722
NM_002180.2(IGHMBP2):c.2671G>A (p.Val891Ile) rs199614709
NM_002180.2(IGHMBP2):c.2674A>G (p.Lys892Glu) rs201970407
NM_002180.2(IGHMBP2):c.2691C>T (p.Cys897=) rs146286133
NM_002180.2(IGHMBP2):c.2715C>T (p.Gly905=) rs779293148
NM_002180.2(IGHMBP2):c.2836C>T (p.Arg946Trp) rs373943338
NM_002180.2(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485
NM_002180.2(IGHMBP2):c.2856C>T (p.Ala952=) rs759627672
NM_002180.2(IGHMBP2):c.2869A>G (p.Lys957Glu) rs370985388
NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615
NM_002180.2(IGHMBP2):c.2976G>A (p.Gly992=) rs755792559
NM_002180.2(IGHMBP2):c.304G>T (p.Ala102Ser) rs35610053
NM_002180.2(IGHMBP2):c.362C>T (p.Ser121Phe) rs2228205
NM_002180.2(IGHMBP2):c.639T>C (p.His213=) rs764495455
NM_002180.2(IGHMBP2):c.711+8G>A rs1403938196
NM_002180.2(IGHMBP2):c.714T>C (p.Val238=) rs755582766
NM_002180.2(IGHMBP2):c.832C>G (p.His278Asp) rs144681826
NM_002180.2(IGHMBP2):c.855G>A (p.Ala285=) rs147409148
NM_002180.2(IGHMBP2):c.857G>A (p.Arg286Gln) rs200566598
NM_002180.2(IGHMBP2):c.954T>C (p.Asn318=) rs1482496537
NM_002180.3(IGHMBP2):c.1110C>T (p.Asp370=)
NM_002180.3(IGHMBP2):c.1185C>T (p.Cys395=) rs756733490
NM_002180.3(IGHMBP2):c.1236-5C>T rs191443556
NM_002180.3(IGHMBP2):c.1296G>A (p.Ala432=)
NM_002180.3(IGHMBP2):c.1344C>T (p.Ile448=)
NM_002180.3(IGHMBP2):c.1407G>A (p.Arg469=)
NM_002180.3(IGHMBP2):c.1410C>T (p.His470=) rs1484199036
NM_002180.3(IGHMBP2):c.1479C>T (p.Thr493=) rs370367228
NM_002180.3(IGHMBP2):c.1524G>A (p.Ser508=)
NM_002180.3(IGHMBP2):c.1530G>A (p.Gly510=)
NM_002180.3(IGHMBP2):c.1614C>T (p.Val538=) rs746241618
NM_002180.3(IGHMBP2):c.168C>T (p.Arg56=)
NM_002180.3(IGHMBP2):c.1757-6T>C rs1594455341
NM_002180.3(IGHMBP2):c.184C>A (p.Arg62=)
NM_002180.3(IGHMBP2):c.211C>A (p.Arg71=)
NM_002180.3(IGHMBP2):c.2140G>A (p.Gly714Arg)
NM_002180.3(IGHMBP2):c.2292G>A (p.Glu764=)
NM_002180.3(IGHMBP2):c.243C>T (p.Asn81=) rs1594415602
NM_002180.3(IGHMBP2):c.2475A>T (p.Pro825=)
NM_002180.3(IGHMBP2):c.256+7G>A rs1312545588
NM_002180.3(IGHMBP2):c.256+8C>T
NM_002180.3(IGHMBP2):c.257-4G>A
NM_002180.3(IGHMBP2):c.257-5T>C
NM_002180.3(IGHMBP2):c.2612-4C>T
NM_002180.3(IGHMBP2):c.2667C>T (p.Ala889=)
NM_002180.3(IGHMBP2):c.2703G>A (p.Lys901=)
NM_002180.3(IGHMBP2):c.273G>T (p.Leu91=)
NM_002180.3(IGHMBP2):c.2776C>T (p.Leu926=)
NM_002180.3(IGHMBP2):c.2838G>A (p.Arg946=) rs778821393
NM_002180.3(IGHMBP2):c.2874C>T (p.Asn958=) rs779753312
NM_002180.3(IGHMBP2):c.2881C>T (p.Leu961=) rs145631247
NM_002180.3(IGHMBP2):c.2943C>T (p.Ser981=)
NM_002180.3(IGHMBP2):c.2949G>A (p.Gln983=) rs761315649
NM_002180.3(IGHMBP2):c.315C>A (p.Ile105=)
NM_002180.3(IGHMBP2):c.339G>A (p.Ser113=) rs150937080
NM_002180.3(IGHMBP2):c.399C>G (p.Ser133=)
NM_002180.3(IGHMBP2):c.441A>C (p.Arg147=) rs1594418098
NM_002180.3(IGHMBP2):c.666G>A (p.Thr222=)
NM_002180.3(IGHMBP2):c.711+10G>C rs1484976321
NM_002180.3(IGHMBP2):c.793C>T (p.Leu265=) rs770943023
NM_002180.3(IGHMBP2):c.913-6T>A
NM_002180.3(IGHMBP2):c.951T>C (p.Ser317=)
NM_002180.3(IGHMBP2):c.993G>A (p.Lys331=) rs1594431729

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.