ClinVar Miner

List of variants studied for Intellectual disability, autosomal recessive 58

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Total variants: 27
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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.1657C>T (p.Gln553Ter) rs1400164869 0.00003
NM_024989.4(PGAP1):c.1558A>G (p.Ile520Val) rs201002323 0.00003
NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp) rs767713084 0.00002
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.2045A>T (p.Lys682Met) rs113810922 0.00002
NM_018255.4(ELP2):c.2236T>C (p.Cys746Arg) rs1414536488 0.00001
NM_018255.4(ELP2):c.617A>G (p.His206Arg) rs773432002 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.1385G>T (p.Arg462Leu) rs371310428
NM_018255.4(ELP2):c.1443_1458dup (p.Cys487fs)
NM_018255.4(ELP2):c.1544C>T (p.Ala515Val)
NM_018255.4(ELP2):c.1663A>C (p.Thr555Pro) rs772450541
NM_018255.4(ELP2):c.1923G>A (p.Trp641Ter)
NM_018255.4(ELP2):c.2084_2087del (p.Val695fs)
NM_018255.4(ELP2):c.212A>G (p.Asp71Gly)
NM_018255.4(ELP2):c.2237del (p.Cys746fs)
NM_018255.4(ELP2):c.2438A>T (p.Asp813Val)
NM_018255.4(ELP2):c.293dup (p.Leu98fs) rs529659464
NM_018255.4(ELP2):c.418C>T (p.Arg140Ter)
NM_018255.4(ELP2):c.445G>T (p.Val149Leu)
NM_018255.4(ELP2):c.454C>A (p.Leu152Ile) rs2144603879
NM_018255.4(ELP2):c.907C>T (p.Gln303Ter)

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