List of variants in gene IGHMBP2 reported as likely benign for Charcot-Marie-Tooth disease

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: 50

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HGVS	dbSNP
NM_002180.2(IGHMBP2):c.*6C>T	rs117995705
NM_002180.2(IGHMBP2):c.1032G>A (p.Ser344=)	rs779452908
NM_002180.2(IGHMBP2):c.1060+8G>T	rs201147313
NM_002180.2(IGHMBP2):c.1064C>T (p.Ala355Val)	rs142062146
NM_002180.2(IGHMBP2):c.1125C>T (p.Asp375=)	rs140296831
NM_002180.2(IGHMBP2):c.1193C>T (p.Ala398Val)	rs35193202
NM_002180.2(IGHMBP2):c.1290C>T (p.Tyr430=)	rs140654955
NM_002180.2(IGHMBP2):c.1294G>A (p.Ala432Thr)	rs116012780
NM_002180.2(IGHMBP2):c.132C>T (p.Gly44=)	rs78807992
NM_002180.2(IGHMBP2):c.1418+11C>T	rs201279838
NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu)	rs117061430
NM_002180.2(IGHMBP2):c.1551C>T (p.Leu517=)	rs150549628
NM_002180.2(IGHMBP2):c.1596C>T (p.Ala532=)	rs988590959
NM_002180.2(IGHMBP2):c.1603A>G (p.Ile535Val)	rs140221316
NM_002180.2(IGHMBP2):c.1770T>C (p.Phe590=)	rs138997061
NM_002180.2(IGHMBP2):c.1821C>T (p.His607=)	rs34658653
NM_002180.2(IGHMBP2):c.2295C>T (p.His765=)	rs149185954
NM_002180.2(IGHMBP2):c.2355G>A (p.Arg785=)	rs147954772
NM_002180.2(IGHMBP2):c.2467C>T (p.Arg823Cys)	rs192806153
NM_002180.2(IGHMBP2):c.2499G>A (p.Leu833=)	rs371840404
NM_002180.2(IGHMBP2):c.2532G>T (p.Ala844=)	rs2228207
NM_002180.2(IGHMBP2):c.2545G>A (p.Ala849Thr)	rs2228208
NM_002180.2(IGHMBP2):c.2612-14C>T	rs200940488
NM_002180.2(IGHMBP2):c.2612-15G>A	rs372230504
NM_002180.2(IGHMBP2):c.2612-16C>T	rs200337900
NM_002180.2(IGHMBP2):c.2619G>A (p.Pro873=)	rs373001247
NM_002180.2(IGHMBP2):c.2691C>T (p.Cys897=)	rs146286133
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.2836C>T (p.Arg946Trp)	rs373943338
NM_002180.2(IGHMBP2):c.344C>T (p.Thr115Met)	rs181657861
NM_002180.2(IGHMBP2):c.548-10T>G	rs139207271
NM_002180.2(IGHMBP2):c.548-20C>T	rs368802434
NM_002180.2(IGHMBP2):c.855G>A (p.Ala285=)	rs147409148
NM_002180.2(IGHMBP2):c.87-19A>G	rs183650590
NM_002180.3(IGHMBP2):c.*18C>T
NM_002180.3(IGHMBP2):c.1061-19G>A
NM_002180.3(IGHMBP2):c.1479C>T (p.Thr493=)	rs370367228
NM_002180.3(IGHMBP2):c.1537+9G>C
NM_002180.3(IGHMBP2):c.1538-11_1538-8del
NM_002180.3(IGHMBP2):c.1538-19G>A
NM_002180.3(IGHMBP2):c.2070C>G (p.Ala690=)
NM_002180.3(IGHMBP2):c.2544C>T (p.Pro848=)	rs746248057
NM_002180.3(IGHMBP2):c.2670C>T (p.Ala890=)
NM_002180.3(IGHMBP2):c.273G>T (p.Leu91=)
NM_002180.3(IGHMBP2):c.2931G>C (p.Leu977=)
NM_002180.3(IGHMBP2):c.406C>T (p.Leu136=)
NM_002180.3(IGHMBP2):c.450-13T>C
NM_002180.3(IGHMBP2):c.548-19G>A
NM_002180.3(IGHMBP2):c.86+7G>C	rs527948004

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