ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_002755.3(MAP2K1):c.323G>T (p.Arg108Leu) rs727504819
NM_002755.3(MAP2K1):c.961C>T (p.Pro321Ser)
NM_002834.4(PTPN11):c.1048T>G (p.Ser350Ala) rs146571700
NM_002834.4(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.4(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
NM_002880.3(RAF1):c.1814C>T (p.Ser605Phe) rs730881004
NM_002880.3(RAF1):c.601A>G (p.Ile201Val) rs757700986
NM_004333.6(BRAF):c.1166G>A (p.Arg389His) rs577372072
NM_004333.6(BRAF):c.1237G>A (p.Val413Met) rs377093637
NM_004333.6(BRAF):c.1940A>G (p.Tyr647Cys) rs1562939198
NM_004333.6(BRAF):c.437G>A (p.Arg146Gln) rs557241012
NM_005633.3(SOS1):c.1098T>A (p.Asp366Glu) rs730881040
NM_005633.3(SOS1):c.1564A>C (p.Asn522His) rs761094509
NM_005633.3(SOS1):c.1720G>A (p.Val574Ile) rs727504641
NM_005633.3(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734
NM_005633.3(SOS1):c.487A>G (p.Lys163Glu) rs886042206
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006939.4(SOS2):c.1861T>G (p.Phe621Val) rs1555370029
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys) rs772746106

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