ClinVar Miner

List of variants in gene IGHMBP2 studied for Spinal muscular atrophy, distal, autosomal recessive, 1

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Total variants: 32
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HGVS dbSNP
NM_002180.2(IGHMBP2):c.-2C>T rs4930624
NM_002180.2(IGHMBP2):c.1193C>A (p.Ala398Glu) rs35193202
NM_002180.2(IGHMBP2):c.1327C>T (p.Arg443Cys)
NM_002180.2(IGHMBP2):c.1346delT (p.Met449Serfs) rs879253865
NM_002180.2(IGHMBP2):c.1418+1G>C rs1160978570
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920
NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430
NM_002180.2(IGHMBP2):c.1537+88G>A rs1555247438
NM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys) rs137852665
NM_002180.2(IGHMBP2):c.1554C>T (p.Val518=) rs11228413
NM_002180.2(IGHMBP2):c.1616C>T (p.Ser539Leu) rs879253887
NM_002180.2(IGHMBP2):c.1708C>T (p.Arg570Ter)
NM_002180.2(IGHMBP2):c.1720G>A (p.Ala574Thr) rs1378524388
NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667
NM_002180.2(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.2(IGHMBP2):c.200T>C (p.Phe67Ser) rs1555242247
NM_002180.2(IGHMBP2):c.2011A>G (p.Thr671Ala) rs622082
NM_002180.2(IGHMBP2):c.2080C>T (p.Arg694Trp) rs2236654
NM_002180.2(IGHMBP2):c.2316C>T (p.Ser772=) rs546382
NM_002180.2(IGHMBP2):c.256+9G>A rs118015540
NM_002180.2(IGHMBP2):c.2636C>A (p.Thr879Lys) rs17612126
NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615
NM_002180.2(IGHMBP2):c.2T>C (p.Met1Thr) rs886037759
NM_002180.2(IGHMBP2):c.547+1G>A rs1057518588
NM_002180.2(IGHMBP2):c.57T>C (p.Leu19=) rs1249463
NM_002180.2(IGHMBP2):c.602T>C (p.Leu201Ser) rs560096
NM_002180.2(IGHMBP2):c.688C>G (p.Gln230Glu) rs1555243325
NM_002180.2(IGHMBP2):c.823A>G (p.Ile275Val) rs10896380
NM_002180.2(IGHMBP2):c.904C>T (p.Gln302Ter) rs557416644
NM_002180.2(IGHMBP2):c.983_987delAAGAA (p.Lys328Thrfs) rs746581714
NM_002180.2(IGHMBP2):c.[660A>C];[92G>A]

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