ClinVar Miner

List of variants in gene RAI1 reported as pathogenic by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_030665.4(RAI1):c.3096del (p.Gln1035fs) rs886044681
NM_030665.4(RAI1):c.3281C>A (p.Ser1094Ter) rs376044849
NM_030665.4(RAI1):c.3583A>T (p.Lys1195Ter) rs727504118
NM_030665.4(RAI1):c.412del (p.Val138fs) rs398124419
NM_030665.4(RAI1):c.4678C>T (p.Arg1560Ter) rs727504119

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