ClinVar Miner

List of variants in gene CHMP2B reported as likely benign for amyotrophic lateral sclerosis

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_014043.4(CHMP2B):c.88A>G (p.Arg30Gly) rs139894940 0.00048
NM_014043.4(CHMP2B):c.364T>C (p.Leu122=) rs189313287 0.00029
NM_014043.4(CHMP2B):c.549A>G (p.Ser183=) rs143178463 0.00016
NM_014043.4(CHMP2B):c.218C>T (p.Thr73Met) rs192188850 0.00014
NM_014043.4(CHMP2B):c.64C>T (p.Arg22Ter) rs138886714 0.00013
NM_014043.4(CHMP2B):c.163A>C (p.Lys55Gln) rs188471297 0.00007
NM_014043.4(CHMP2B):c.111A>G (p.Lys37=) rs376846232 0.00006
NM_014043.4(CHMP2B):c.424+10A>G rs375906390 0.00006
NM_014043.4(CHMP2B):c.56G>A (p.Arg19Gln) rs200322526 0.00006
NM_014043.4(CHMP2B):c.219G>A (p.Thr73=) rs754433917 0.00003
NM_014043.4(CHMP2B):c.315A>G (p.Thr105=) rs778796624 0.00003
NM_014043.4(CHMP2B):c.21G>A (p.Lys7=) rs1364419230 0.00001
NM_014043.4(CHMP2B):c.114A>G (p.Gln38=)
NM_014043.4(CHMP2B):c.127-7C>T
NM_014043.4(CHMP2B):c.180T>G (p.Val60=)
NM_014043.4(CHMP2B):c.216G>A (p.Lys72=)
NM_014043.4(CHMP2B):c.234A>C (p.Val78=) rs765641845
NM_014043.4(CHMP2B):c.315A>C (p.Thr105=) rs778796624
NM_014043.4(CHMP2B):c.321+10A>C
NM_014043.4(CHMP2B):c.34+14C>G
NM_014043.4(CHMP2B):c.390G>A (p.Lys130=)
NM_014043.4(CHMP2B):c.408A>G (p.Glu136=)
NM_014043.4(CHMP2B):c.424+19_424+21del rs2106913116
NM_014043.4(CHMP2B):c.424+20A>C
NM_014043.4(CHMP2B):c.453C>T (p.Asp151=) rs767746876
NM_014043.4(CHMP2B):c.474A>G (p.Glu158=) rs1285764025
NM_014043.4(CHMP2B):c.531+14C>A
NM_014043.4(CHMP2B):c.531+8C>T rs374796686
NM_014043.4(CHMP2B):c.532-14A>G
NM_014043.4(CHMP2B):c.579T>A (p.Thr193=)

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