ClinVar Miner

List of variants studied for Noonan syndrome by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_006767.4(LZTR1):c.1030del (p.Ser344fs) rs1555928249
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334

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