ClinVar Miner

List of variants studied for Noonan syndrome by UCLA Clinical Genomics Center, UCLA

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360

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