ClinVar Miner

List of variants in gene RAI1 reported as pathogenic by Ambry Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_030665.4(RAI1):c.1490del (p.Leu497fs) rs2032151441
NM_030665.4(RAI1):c.153T>A (p.Tyr51Ter) rs961308480
NM_030665.4(RAI1):c.1670_1671del (p.Ser557fs) rs1555565243
NM_030665.4(RAI1):c.2234_2237del (p.Ala745fs) rs1555565426
NM_030665.4(RAI1):c.2763_2764del (p.Glu923fs)
NM_030665.4(RAI1):c.2966_2969del (p.Lys989fs) rs1135401792
NM_030665.4(RAI1):c.3937dup (p.Ala1313fs)
NM_030665.4(RAI1):c.4432del (p.Arg1478fs) rs2032300575

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