ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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_006767.4(LZTR1):c.1982G>A (p.Gly661Glu) rs750582696 0.00001
NM_002834.5(PTPN11):c.1095T>A (p.Ser365Arg)
NM_006767.4(LZTR1):c.271A>G (p.Met91Val) rs1135401945
NM_006939.4(SOS2):c.1429C>T (p.Arg477Trp) rs1555370121
NM_006939.4(SOS2):c.496A>G (p.Met166Val) rs1555322175

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