List of variants reported as likely pathogenic for Intellectual disability, autosomal recessive 58

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln)	rs371310428	0.00002
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter)	rs553697188	0.00002
NM_018255.4(ELP2):c.617A>G (p.His206Arg)	rs773432002	0.00001
NM_018255.4(ELP2):c.1443_1458dup (p.Cys487fs)
NM_018255.4(ELP2):c.2084_2087del (p.Val695fs)
NM_018255.4(ELP2):c.2237del (p.Cys746fs)
NM_018255.4(ELP2):c.293dup (p.Leu98fs)	rs529659464

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