ClinVar Miner

List of variants in gene METTL23 studied for Inborn genetic diseases

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001080510.5(METTL23):c.20C>T (p.Ala7Val) rs201999820 0.00011
NM_001080510.5(METTL23):c.150dup (p.Asp51fs) rs1462161137 0.00003
NM_001080510.5(METTL23):c.504del (p.Glu169fs) rs1443221868 0.00001
NM_001080510.5(METTL23):c.169_172del (p.His57fs) rs587777644
NM_001080510.5(METTL23):c.174_177del (p.Cys58fs) rs746453662
NM_001080510.5(METTL23):c.178del (p.Glu60fs) rs1382444181
NM_001080510.5(METTL23):c.188G>A (p.Arg63Gln)
NM_001080510.5(METTL23):c.275CAC[1] (p.Pro93del) rs773937309
NM_001080510.5(METTL23):c.278C>T (p.Pro93Leu)
NM_001080510.5(METTL23):c.360G>C (p.Met120Ile)
NM_001080510.5(METTL23):c.493G>T (p.Glu165Ter) rs1023390952
NM_001080510.5(METTL23):c.85-8_85-6del

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