List of variants reported as uncertain significance for Intellectual disability, autosomal recessive 58

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_018255.4(ELP2):c.2396C>T (p.Ala799Val)	rs35629953	0.00409
NM_018255.4(ELP2):c.1381C>A (p.Leu461Ile)	rs35094617	0.00058
NM_018255.4(ELP2):c.1331T>C (p.Leu444Ser)	rs139040517	0.00021
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter)	rs553697188	0.00002
NM_018255.4(ELP2):c.2045A>T (p.Lys682Met)	rs113810922	0.00002
NM_018255.4(ELP2):c.2236T>C (p.Cys746Arg)	rs1414536488	0.00001
NM_018255.4(ELP2):c.918A>T (p.Arg306Ser)	rs1389450136	0.00001
NM_018255.4(ELP2):c.1239A>C (p.Arg413Ser)	rs2090517565
NM_018255.4(ELP2):c.1544C>T (p.Ala515Val)
NM_018255.4(ELP2):c.1923G>A (p.Trp641Ter)
NM_018255.4(ELP2):c.212A>G (p.Asp71Gly)
NM_018255.4(ELP2):c.2438A>T (p.Asp813Val)
NM_018255.4(ELP2):c.445G>T (p.Val149Leu)

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