ClinVar Miner

List of variants in gene RAI1 reported as pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_030665.4(RAI1):c.2223_2224dup (p.Asn742fs) rs2143002175
NM_030665.4(RAI1):c.362_363insT (p.Trp121fs) rs2032092446
NM_030665.4(RAI1):c.367del (p.Ala123fs) rs1290537273
NM_030665.4(RAI1):c.848_851del (p.Gln283fs)
NM_030665.4(RAI1):c.868C>T (p.Gln290Ter) rs771803841

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