ClinVar Miner

List of variants in gene RAI1 reported as pathogenic by GeneDx

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_030665.4(RAI1):c.1114dup (p.Tyr372fs) rs1131691817
NM_030665.4(RAI1):c.1348C>T (p.Gln450Ter) rs1567917533
NM_030665.4(RAI1):c.1690_1691del (p.Met564fs) rs886039715
NM_030665.4(RAI1):c.1692_1693del (p.Met564fs)
NM_030665.4(RAI1):c.182_185del (p.Gly61fs) rs1598086801
NM_030665.4(RAI1):c.2275G>T (p.Gly759Ter) rs886041916
NM_030665.4(RAI1):c.238C>T (p.Arg80Ter)
NM_030665.4(RAI1):c.2538del (p.Thr847fs) rs1598090354
NM_030665.4(RAI1):c.2613C>A (p.Tyr871Ter) rs1555565533
NM_030665.4(RAI1):c.2802dup (p.Glu935fs) rs1598090745
NM_030665.4(RAI1):c.2966_2969del (p.Lys989fs) rs1135401792
NM_030665.4(RAI1):c.3121del (p.Ala1041fs) rs1131691617
NM_030665.4(RAI1):c.3142_3144delinsCT (p.Ala1048fs) rs1555565674
NM_030665.4(RAI1):c.3393_3396del (p.Asp1132fs) rs1064796156
NM_030665.4(RAI1):c.3398C>G (p.Ser1133Ter) rs750335388
NM_030665.4(RAI1):c.3681del (p.Phe1228fs) rs1598092034
NM_030665.4(RAI1):c.4432C>T (p.Arg1478Ter) rs753540389
NM_030665.4(RAI1):c.4810C>T (p.Arg1604Ter)
NM_030665.4(RAI1):c.4884del (p.Ser1629fs) rs1555566124
NM_030665.4(RAI1):c.5182del (p.Thr1728fs) rs1064796209
NM_030665.4(RAI1):c.5265dup (p.Arg1756fs)
NM_030665.4(RAI1):c.860_861del (p.Gln287fs) rs2143001767

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