ClinVar Miner

List of variants in gene IGHMBP2 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 46
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HGVS dbSNP
NM_002180.2(IGHMBP2):c.-2C>T rs4930624
NM_002180.2(IGHMBP2):c.1060+8G>T rs201147313
NM_002180.2(IGHMBP2):c.1060G>A (p.Gly354Ser) rs886043773
NM_002180.2(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146
NM_002180.2(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556
NM_002180.2(IGHMBP2):c.1106T>A (p.Phe369Tyr) rs756791529
NM_002180.2(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202
NM_002180.2(IGHMBP2):c.127C>T (p.Arg43Ter) rs200089714
NM_002180.2(IGHMBP2):c.132C>T (p.Gly44=) rs78807992
NM_002180.2(IGHMBP2):c.1398C>T (p.Ser466=) rs147477786
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.1546C>T (p.Arg516Cys) rs757425203
NM_002180.2(IGHMBP2):c.1581C>T (p.Asp527=) rs149736203
NM_002180.2(IGHMBP2):c.1603A>G (p.Ile535Val) rs140221316
NM_002180.2(IGHMBP2):c.1737C>T (p.Phe579=) rs368775789
NM_002180.2(IGHMBP2):c.2080C>T (p.Arg694Trp) rs2236654
NM_002180.2(IGHMBP2):c.2090C>T (p.Pro697Leu) rs77807333
NM_002180.2(IGHMBP2):c.2091G>A (p.Pro697=) rs113615425
NM_002180.2(IGHMBP2):c.2176G>A (p.Val726Met) rs143986510
NM_002180.2(IGHMBP2):c.2197_2203delinsCA (p.Ile733fs) rs886042313
NM_002180.2(IGHMBP2):c.2295C>T (p.His765=) rs149185954
NM_002180.2(IGHMBP2):c.229G>C (p.Ala77Pro) rs778774954
NM_002180.2(IGHMBP2):c.2316C>T (p.Ser772=) rs546382
NM_002180.2(IGHMBP2):c.242del (p.Asn81fs) rs1249076926
NM_002180.2(IGHMBP2):c.2439G>A (p.Ala813=) rs624147
NM_002180.2(IGHMBP2):c.2458A>G (p.Arg820Gly) rs1566447241
NM_002180.2(IGHMBP2):c.256+9G>A rs118015540
NM_002180.2(IGHMBP2):c.2560C>T (p.Gln854Ter) rs750024353
NM_002180.2(IGHMBP2):c.2598_2599del (p.Lys868fs) rs886043774
NM_002180.2(IGHMBP2):c.2618C>T (p.Pro873Leu) rs141903179
NM_002180.2(IGHMBP2):c.2636C>A (p.Thr879Lys) rs17612126
NM_002180.2(IGHMBP2):c.2643G>A (p.Glu881=) rs374950193
NM_002180.2(IGHMBP2):c.2730C>G (p.Gly910=) rs139416105
NM_002180.2(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138
NM_002180.2(IGHMBP2):c.2796C>T (p.Cys932=) rs112870015
NM_002180.2(IGHMBP2):c.2818G>A (p.Ala940Thr) rs757839224
NM_002180.2(IGHMBP2):c.2844G>A (p.Gly948=) rs147918962
NM_002180.2(IGHMBP2):c.2868C>T (p.Thr956=) rs752024072
NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615
NM_002180.2(IGHMBP2):c.344C>T (p.Thr115Met) rs181657861
NM_002180.2(IGHMBP2):c.57T>C (p.Leu19=) rs1249463
NM_002180.2(IGHMBP2):c.741C>T (p.Ala247=) rs76707931
NM_002180.2(IGHMBP2):c.808C>T (p.Arg270Cys) rs201054207
NM_002180.2(IGHMBP2):c.832C>G (p.His278Asp) rs144681826
NM_002180.2(IGHMBP2):c.855G>A (p.Ala285=) rs147409148

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