ClinVar Miner

List of variants studied for Noonan syndrome 8 by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006912.6(RIT1):c.116T>G (p.Met39Arg) rs2102590945
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822

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