ClinVar Miner

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

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.1407G>A (p.Trp469Ter) rs777243508 0.00019
NM_006767.4(LZTR1):c.1385T>C (p.Ile462Thr) rs147684991 0.00003
NM_006767.4(LZTR1):c.-38T>A rs1459786357 0.00001
NM_006767.4(LZTR1):c.1311G>A (p.Trp437Ter) rs770933647 0.00001
NM_006767.4(LZTR1):c.2246A>G (p.Tyr749Cys) rs755260815 0.00001
NM_006767.4(LZTR1):c.1382C>A (p.Ala461Asp) rs1569156890

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