ClinVar Miner

List of variants studied for Noonan syndrome and Noonan-related syndrome by Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_002834.4(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala) rs397507539
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456

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