List of variants reported as likely pathogenic for intellectual disability, autosomal recessive 18

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter)	rs769471341	0.00001
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys)	rs766478634	0.00001
NM_004830.4(MED23):c.1181C>T (p.Pro394Leu)	rs1775982467
NM_004830.4(MED23):c.2368_2371del (p.Leu790fs)	rs760262127
NM_004830.4(MED23):c.3145del (p.Tyr1048_Leu1049insTer)
NM_004830.4(MED23):c.3988C>T (p.Arg1330Ter)	rs527236036
NM_004830.4(MED23):c.479T>C (p.Leu160Pro)	rs786205583

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