ClinVar Miner

List of variants studied for Noonan syndrome 8 by Revvity Omics, Revvity

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.245T>G (p.Phe82Cys) rs868208063
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.365G>A (p.Arg122Gln)
NM_006912.6(RIT1):c.602A>G (p.Asn201Ser)

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