List of variants in gene MED23 reported as pathogenic for Intellectual disability, autosomal recessive 18

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_004830.4(MED23):c.2832dup (p.Val945fs)	rs771485728	0.00002
NM_004830.4(MED23):c.1832G>A (p.Arg611Gln)	rs370667926	0.00001
NM_004830.4(MED23):c.382G>A (p.Gly128Arg)	rs569927513	0.00001
NM_004830.4(MED23):c.1919A>G (p.Gln640Arg)	rs745997916
NM_004830.4(MED23):c.3638A>G (p.His1213Arg)	rs527236035
NM_004830.4(MED23):c.3988C>T (p.Arg1330Ter)	rs527236036
NM_004830.4(MED23):c.506A>G (p.Tyr169Cys)	rs2114757071
NM_004830.4(MED23):c.539C>A (p.Ala180Asp)	rs2114756866
NM_004830.4(MED23):c.670C>G (p.Arg224Gly)	rs1293450628

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