ClinVar Miner

List of variants in gene IGHMBP2 reported as uncertain significance for Distal spinal muscular atrophy

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Total variants: 35
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HGVS dbSNP
NC_000011.9:g.68673706_68696651del
NM_002180.2(IGHMBP2):c.1060+1G>T rs1366461184
NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167
NM_002180.2(IGHMBP2):c.1144G>A (p.Glu382Lys) rs776730737
NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927
NM_002180.2(IGHMBP2):c.1235+3A>G rs1369278472
NM_002180.2(IGHMBP2):c.1277T>C (p.Leu426Pro) rs1555247218
NM_002180.2(IGHMBP2):c.1334A>C (p.His445Pro) rs571142182
NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714
NM_002180.2(IGHMBP2):c.1415T>C (p.Leu472Pro) rs1594451536
NM_002180.2(IGHMBP2):c.163C>T (p.Gln55Ter) rs1479493690
NM_002180.2(IGHMBP2):c.1648_1649insG (p.Gln550fs) rs1594454167
NM_002180.2(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639
NM_002180.2(IGHMBP2):c.1708C>T (p.Arg570Ter) rs1000091588
NM_002180.2(IGHMBP2):c.1743A>C (p.Arg581Ser) rs1594454382
NM_002180.2(IGHMBP2):c.1748A>T (p.Asn583Ile) rs1594454388
NM_002180.2(IGHMBP2):c.1756G>T (p.Gly586Cys) rs56052951
NM_002180.2(IGHMBP2):c.1807C>T (p.Arg603Cys) rs1465803265
NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750
NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431
NM_002180.2(IGHMBP2):c.1909C>T (p.Arg637Cys) rs201563456
NM_002180.2(IGHMBP2):c.1969C>T (p.Gln657Ter) rs866417417
NM_002180.2(IGHMBP2):c.50T>C (p.Leu17Pro) rs1594412120
NM_002180.2(IGHMBP2):c.616C>T (p.Gln206Ter) rs1594422624
NM_002180.2(IGHMBP2):c.647C>T (p.Pro216Leu) rs1594422676
NM_002180.2(IGHMBP2):c.661A>G (p.Thr221Ala) rs1594422709
NM_002180.2(IGHMBP2):c.721T>C (p.Cys241Arg) rs1594427373
NM_002180.2(IGHMBP2):c.752T>C (p.Leu251Pro) rs1594427489
NM_002180.2(IGHMBP2):c.904C>T (p.Gln302Ter) rs557416644
NM_002180.3(IGHMBP2):c.121del (p.Gln41fs) rs1332319177
NM_002180.3(IGHMBP2):c.1325A>G (p.Tyr442Cys) rs1594451320
NM_002180.3(IGHMBP2):c.1877del (p.Leu626fs) rs1594455576
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs) rs750994603
NM_002180.3(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) rs724159994
NM_002180.3(IGHMBP2):c.661del (p.Thr221fs) rs779716706

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