ClinVar Miner

List of variants reported as likely pathogenic for Noonan syndrome by Mendelics

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.1653_1655del (p.Arg552del) rs1572830219
NM_006767.4(LZTR1):c.1682G>A (p.Arg561His) rs970027059
NM_006767.4(LZTR1):c.685T>C (p.Cys229Arg) rs886041925

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