ClinVar Miner

List of variants in gene combination KANSL1, MAPT reported as benign for Syndromic intellectual disability

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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_001377265.1(MAPT):c.*1067T>C rs1052587
NM_001377265.1(MAPT):c.*1101A>G rs1052590
NM_001377265.1(MAPT):c.*1145_*1146insT rs1491446284
NM_001377265.1(MAPT):c.*1152G>C rs1052594
NM_001377265.1(MAPT):c.*1759T>C rs7687
NM_001377265.1(MAPT):c.*2079C>T rs17652748
NM_001377265.1(MAPT):c.*2269G>T rs73317039
NM_001377265.1(MAPT):c.*2806A>C rs2158257
NM_001377265.1(MAPT):c.*2972T>C rs17574228
NM_001377265.1(MAPT):c.*3078=
NM_001377265.1(MAPT):c.*3848A>G rs114213384
NM_015443.4(KANSL1):c.*1328del rs71665335
NM_015443.4(KANSL1):c.*1354del rs67641084
NM_015443.4(KANSL1):c.*1520del rs67801660
NM_015443.4(KANSL1):c.*359_*360insAGAGGGC rs113448888
NM_015443.4(KANSL1):c.*742G>A rs7350928
NM_015443.4(KANSL1):c.*885del rs5820607
NM_015443.4(KANSL1):c.2742C>T (p.Asp914=) rs35833914
NM_015443.4(KANSL1):c.2751C>T (p.Phe917=) rs36076725
NM_015443.4(KANSL1):c.3029C>T (p.Pro1010Leu) rs7220988

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