ClinVar Miner

List of variants in gene CHMP2B reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_014043.4(CHMP2B):c.34+8C>T rs35413339 0.00300
NM_014043.4(CHMP2B):c.35-7C>T rs200912994 0.00133
NM_014043.4(CHMP2B):c.364T>C (p.Leu122=) rs189313287 0.00029
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818 0.00020
NM_014043.4(CHMP2B):c.206G>A (p.Arg69Gln) rs200792883 0.00011
NM_014043.4(CHMP2B):c.187A>G (p.Lys63Glu) rs745754634 0.00001
GRCh37/hg19 3p11.2(chr3:87276673-87276706)x1
NM_014043.4(CHMP2B):c.175A>G (p.Lys59Glu)
NM_014043.4(CHMP2B):c.467A>G (p.Glu156Gly) rs2106916897
NM_014043.4(CHMP2B):c.614G>A (p.Arg205Gln) rs750217435

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