ClinVar Miner

List of variants reported as pathogenic for Noonan syndrome by Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre,University of Oxford

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_006767.3(LZTR1):c.-38T>A
NM_006767.3(LZTR1):c.1311G>A (p.Trp437Ter) rs770933647
NM_006767.3(LZTR1):c.1407G>A (p.Trp469Ter) rs777243508

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