ClinVar Miner

List of variants reported as likely pathogenic for Noonan syndrome 1 by Baylor Genetics

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.5(PTPN11):c.213T>A (p.Phe71Leu)

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