ClinVar Miner

List of variants studied for Noonan syndrome 4 by Genomic Medicine Lab, University of California San Francisco

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.1644T>A (p.Ser548Arg) rs730881045
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005633.4(SOS1):c.806T>G (p.Met269Arg) rs137852813

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