List of variants in gene IGHMBP2 reported as benign for Charcot-Marie-Tooth disease axonal type 2S

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 47

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HGVS	dbSNP	gnomAD frequency
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser)	rs560096	0.76511
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=)	rs1249463	0.76080
NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala)	rs622082	0.24183
NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=)	rs546382	0.24174
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys)	rs17612126	0.22387
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp)	rs2236654	0.20662
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val)	rs10896380	0.19067
NM_002180.3(IGHMBP2):c.-2C>T	rs4930624	0.18778
NM_002180.3(IGHMBP2):c.1418+18A>G	rs112575423	0.06280
NM_002180.3(IGHMBP2):c.2439G>A (p.Ala813=)	rs624147	0.01079
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=)	rs34617762	0.00959
NM_002180.3(IGHMBP2):c.223G>A (p.Ala75Thr)	rs2228206	0.00946
NM_002180.3(IGHMBP2):c.1757-18C>A	rs77247855	0.00796
NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys)	rs2275996	0.00707
NM_002180.3(IGHMBP2):c.256+9G>A	rs118015540	0.00600
NM_002180.3(IGHMBP2):c.2025C>T (p.Thr675=)	rs138396245	0.00580
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=)	rs76707931	0.00520
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=)	rs148157556	0.00517
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu)	rs117061430	0.00506
NM_002180.3(IGHMBP2):c.1939G>A (p.Val647Ile)	rs77822399	0.00494
NM_002180.3(IGHMBP2):c.1821C>T (p.His607=)	rs34658653	0.00420
NM_002180.3(IGHMBP2):c.1770T>C (p.Phe590=)	rs138997061	0.00398
NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr)	rs116012780	0.00392
NM_002180.3(IGHMBP2):c.2091G>A (p.Pro697=)	rs113615425	0.00247
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val)	rs35193202	0.00187
NM_002180.3(IGHMBP2):c.132C>T (p.Gly44=)	rs78807992	0.00130
NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=)	rs139416105	0.00128
NM_002180.3(IGHMBP2):c.276C>T (p.Tyr92=)	rs146217031	0.00119
NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=)	rs147918962	0.00105
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=)	rs139926138	0.00096
NM_002180.3(IGHMBP2):c.2322A>G (p.Glu774=)	rs11228414	0.00085
NM_002180.3(IGHMBP2):c.1418+11C>T	rs201279838	0.00071
NM_002180.3(IGHMBP2):c.548-10T>G	rs139207271	0.00065
NM_002180.3(IGHMBP2):c.344C>T (p.Thr115Met)	rs181657861	0.00046
NM_002180.3(IGHMBP2):c.2872A>G (p.Asn958Asp)	rs141873613	0.00037
NM_002180.3(IGHMBP2):c.366C>T (p.His122=)	rs144401213	0.00019
NM_002180.3(IGHMBP2):c.1149G>A (p.Ala383=)	rs201485072	0.00010
NM_002180.3(IGHMBP2):c.548-20C>T	rs368802434	0.00008
NM_002180.3(IGHMBP2):c.2883G>A (p.Leu961=)	rs3750977	0.00004
NM_002180.3(IGHMBP2):c.1827G>A (p.Ala609=)	rs541245852	0.00003
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=)	rs201760315	0.00002
NM_002180.3(IGHMBP2):c.1212G>T (p.Leu404=)
NM_002180.3(IGHMBP2):c.2295C>T (p.His765=)	rs149185954
NM_002180.3(IGHMBP2):c.2532G>A (p.Ala844=)	rs2228207
NM_002180.3(IGHMBP2):c.2870A>G (p.Lys957Arg)	rs572019890
NM_002180.3(IGHMBP2):c.726C>G (p.Ala242=)	rs76690064
NM_002180.3(IGHMBP2):c.86+7G>C	rs527948004

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