ClinVar Miner

List of variants studied for RIDDLE syndrome by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_152617.4(RNF168):c.391C>T (p.Arg131Ter) rs201915239 0.00001
NM_152617.4(RNF168):c.1323_1326del (p.Gln442fs) rs1047608955
NM_152617.4(RNF168):c.397dup (p.Ala133fs) rs1577516447

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