ClinVar Miner

List of variants in gene IGHMBP2 reported as uncertain significance for Spinal muscular atrophy, distal, autosomal recessive, 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 89
Download table as spreadsheet
HGVS dbSNP
NM_002180.2(IGHMBP2):c.*117G>A rs745828352
NM_002180.2(IGHMBP2):c.*415G>A rs886048609
NM_002180.2(IGHMBP2):c.*425G>A rs144205786
NM_002180.2(IGHMBP2):c.*466G>A rs542162905
NM_002180.2(IGHMBP2):c.*648G>T rs139118510
NM_002180.2(IGHMBP2):c.*692A>G rs188469352
NM_002180.2(IGHMBP2):c.*6C>T rs117995705
NM_002180.2(IGHMBP2):c.*788C>T rs886048610
NM_002180.2(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005
NM_002180.2(IGHMBP2):c.1018G>A (p.Glu340Lys) rs750580259
NM_002180.2(IGHMBP2):c.103A>G (p.Ile35Val) rs199586231
NM_002180.2(IGHMBP2):c.1060+8G>T rs201147313
NM_002180.2(IGHMBP2):c.1125C>T (p.Asp375=) rs140296831
NM_002180.2(IGHMBP2):c.1194G>A (p.Ala398=) rs745534850
NM_002180.2(IGHMBP2):c.1236-10C>T rs778515935
NM_002180.2(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955
NM_002180.2(IGHMBP2):c.1340C>G (p.Ala447Gly) rs144240271
NM_002180.2(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907
NM_002180.2(IGHMBP2):c.1537+88G>A rs1555247438
NM_002180.2(IGHMBP2):c.1551C>T (p.Leu517=) rs150549628
NM_002180.2(IGHMBP2):c.1587T>G (p.Gly529=) rs886048604
NM_002180.2(IGHMBP2):c.1669C>G (p.Pro557Ala) rs7122089
NM_002180.2(IGHMBP2):c.1720G>A (p.Ala574Thr) rs1378524388
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.1874C>T (p.Thr625Ile) rs886048605
NM_002180.2(IGHMBP2):c.200T>C (p.Phe67Ser) rs1555242247
NM_002180.2(IGHMBP2):c.2026G>A (p.Gly676Arg) rs149577588
NM_002180.2(IGHMBP2):c.2040G>A (p.Gln680=) rs886048606
NM_002180.2(IGHMBP2):c.2139C>T (p.Asn713=) rs199879444
NM_002180.2(IGHMBP2):c.2176G>A (p.Val726Met) rs143986510
NM_002180.2(IGHMBP2):c.217G>A (p.Gly73Arg) rs376644749
NM_002180.2(IGHMBP2):c.2194A>G (p.Met732Val) rs750717921
NM_002180.2(IGHMBP2):c.2224A>G (p.Met742Val) rs754473710
NM_002180.2(IGHMBP2):c.222C>A (p.Ser74=) rs139237340
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.2361G>A (p.Pro787=) rs187924099
NM_002180.2(IGHMBP2):c.2369G>A (p.Arg790Gln) rs147038490
NM_002180.2(IGHMBP2):c.2532G>T (p.Ala844=) rs2228207
NM_002180.2(IGHMBP2):c.2612-15G>A rs372230504
NM_002180.2(IGHMBP2):c.2646C>A (p.Asp882Glu) rs372629862
NM_002180.2(IGHMBP2):c.2674A>G (p.Lys892Glu) rs201970407
NM_002180.2(IGHMBP2):c.2683A>G (p.Asn895Asp) rs886048607
NM_002180.2(IGHMBP2):c.2753G>A (p.Arg918His) rs368584364
NM_002180.2(IGHMBP2):c.2755C>A (p.Arg919Ser) rs145945230
NM_002180.2(IGHMBP2):c.2784+7C>T rs58094037
NM_002180.2(IGHMBP2):c.2787C>G (p.Ile929Met) rs761854167
NM_002180.2(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138
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.2872A>G (p.Asn958Asp) rs141873613
NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615
NM_002180.2(IGHMBP2):c.2959C>T (p.Arg987Trp) rs1440519538
NM_002180.2(IGHMBP2):c.2975G>A (p.Gly992Glu) rs886048608
NM_002180.2(IGHMBP2):c.381C>G (p.Ser127Arg) rs775782198
NM_002180.2(IGHMBP2):c.547+9T>G rs886048603
NM_002180.2(IGHMBP2):c.696G>T (p.Val232=) rs748899869
NM_002180.2(IGHMBP2):c.714T>C (p.Val238=) rs755582766
NM_002180.2(IGHMBP2):c.726C>A (p.Ala242=) rs76690064
NM_002180.2(IGHMBP2):c.767C>G (p.Ala256Gly) rs148095551
NM_002180.2(IGHMBP2):c.857G>A (p.Arg286Gln) rs200566598
NM_002180.2(IGHMBP2):c.861C>G (p.Ser287Arg) rs564645287
NM_002180.2(IGHMBP2):c.901G>A (p.Asp301Asn) rs139635469
NM_002180.2(IGHMBP2):c.912+4G>A rs758392980
NM_002180.2(IGHMBP2):c.963T>C (p.Asn321=) rs771900045
NM_002180.3(IGHMBP2):c.*108G>A
NM_002180.3(IGHMBP2):c.*172C>T
NM_002180.3(IGHMBP2):c.*226G>C
NM_002180.3(IGHMBP2):c.*23C>T
NM_002180.3(IGHMBP2):c.*242C>T
NM_002180.3(IGHMBP2):c.*379G>A
NM_002180.3(IGHMBP2):c.*465C>T
NM_002180.3(IGHMBP2):c.*529C>T
NM_002180.3(IGHMBP2):c.*565G>A
NM_002180.3(IGHMBP2):c.*666G>A
NM_002180.3(IGHMBP2):c.*698C>A
NM_002180.3(IGHMBP2):c.*754G>A
NM_002180.3(IGHMBP2):c.*797T>G
NM_002180.3(IGHMBP2):c.*862T>C
NM_002180.3(IGHMBP2):c.1349G>A (p.Arg450His)
NM_002180.3(IGHMBP2):c.1816C>T (p.Arg606Cys)
NM_002180.3(IGHMBP2):c.1958A>C (p.His653Pro)
NM_002180.3(IGHMBP2):c.2667C>T (p.Ala889=)
NM_002180.3(IGHMBP2):c.2881C>T (p.Leu961=) rs145631247
NM_002180.3(IGHMBP2):c.303G>A (p.Leu101=)
NM_002180.3(IGHMBP2):c.351C>T (p.Ala117=)
NM_002180.3(IGHMBP2):c.887T>C (p.Ile296Thr)

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.