ClinVar Miner

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

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Total variants: 33
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HGVS dbSNP
NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167
NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927
NM_002180.2(IGHMBP2):c.1313dup (p.Thr439fs) rs1566443170
NM_002180.2(IGHMBP2):c.1336C>T (p.Gln446Ter) rs372181708
NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714
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.1516G>T (p.Glu506Ter) rs556292818
NM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys) rs137852665
NM_002180.2(IGHMBP2):c.163C>T (p.Gln55Ter) rs1479493690
NM_002180.2(IGHMBP2):c.1681dup (p.Ile561fs) rs1555247732
NM_002180.2(IGHMBP2):c.1708C>T (p.Arg570Ter) rs1000091588
NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431
NM_002180.2(IGHMBP2):c.2368C>T (p.Arg790Ter) rs773242930
NM_002180.2(IGHMBP2):c.2575C>T (p.Gln859Ter) rs1373247548
NM_002180.2(IGHMBP2):c.2598_2599del (p.Lys868fs) rs886043774
NM_002180.2(IGHMBP2):c.2598_2601del (p.Lys868fs) rs754422011
NM_002180.2(IGHMBP2):c.2611+1G>T rs786205090
NM_002180.2(IGHMBP2):c.439C>T (p.Arg147Ter) rs1324667543
NM_002180.2(IGHMBP2):c.449+1G>A rs797044802
NM_002180.2(IGHMBP2):c.826C>T (p.Gln276Ter) rs1566430156
NM_002180.3(IGHMBP2):c.1225_1232del (p.Val409fs)
NM_002180.3(IGHMBP2):c.127C>T (p.Arg43Ter) rs200089714
NM_002180.3(IGHMBP2):c.133del (p.Val45fs) rs1594415353
NM_002180.3(IGHMBP2):c.1702del (p.Gln568fs)
NM_002180.3(IGHMBP2):c.216C>G (p.Tyr72Ter)
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs) rs750994603
NM_002180.3(IGHMBP2):c.2429del (p.Pro810fs)
NM_002180.3(IGHMBP2):c.2540del (p.Gln847fs)
NM_002180.3(IGHMBP2):c.2611+1G>A
NM_002180.3(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) rs724159994
NM_002180.3(IGHMBP2):c.673del (p.Val225fs)
NM_002180.3(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) rs746581714

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