ClinVar Miner

List of variants in gene METTL23 studied for autosomal recessive non-syndromic intellectual disability

Included ClinVar conditions (71):
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Gene type:
ClinVar version:
Total variants: 20
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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.250A>G (p.Ile84Val) rs527442928 0.00009
NM_001080510.5(METTL23):c.319G>A (p.Glu107Lys) rs778423082 0.00003
NM_001080510.5(METTL23):c.271C>G (p.Leu91Val) rs746117702 0.00001
NM_001080510.5(METTL23):c.407+6T>C rs1373087430 0.00001
NM_001080510.5(METTL23):c.126del (p.Lys42fs) rs2143866789
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.178dup (p.Glu60fs) rs1382444181
NM_001080510.5(METTL23):c.204_207del (p.Met68fs)
NM_001080510.5(METTL23):c.266T>A (p.Leu89Gln)
NM_001080510.5(METTL23):c.275CAC[1] (p.Pro93del) rs773937309
NM_001080510.5(METTL23):c.282_286del (p.Gln94fs) rs587777645
NM_001080510.5(METTL23):c.322+1del
NM_001080510.5(METTL23):c.322+2dup
NM_001080510.5(METTL23):c.397C>T (p.Gln133Ter) rs587777646
NM_001080510.5(METTL23):c.409del (p.Ala137fs)
NM_001080510.5(METTL23):c.417G>T (p.Trp139Cys) rs2077335572
NM_001080510.5(METTL23):c.496G>T (p.Asp166Tyr) rs138247613
NM_001080510.5(METTL23):c.521G>T (p.Gly174Val) rs1395171597

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