ClinVar Miner

List of variants studied for Noonan syndrome by Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_001354689.3(RAF1):c.659_660del (p.Ser220fs)
NM_002834.4(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.4(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_005633.3(SOS1):c.2316G>C (p.Glu772Asp) rs1176763588
NM_006767.4(LZTR1):c.1585T>C (p.Tyr529His)
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194

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