ClinVar Miner

List of variants studied for Noonan syndrome by Institute Of Reproduction And Development, Obstetrics and Gynecology Hospital, Fudan University

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 0.00001
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_005633.4(SOS1):c.1294T>C (p.Trp432Arg) rs267607080

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