ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome by New York Genome Center

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_002880.4(RAF1):c.1814C>T (p.Ser605Phe) rs730881004 0.00006
NM_006767.4(LZTR1):c.1978G>A (p.Glu660Lys) rs151000791 0.00004
NM_005633.4(SOS1):c.3806C>G (p.Thr1269Arg) rs370528448 0.00003
NM_006912.6(RIT1):c.163+6C>A rs1157450415 0.00001
NM_006939.4(SOS2):c.1732A>G (p.Lys578Glu) rs748480687 0.00001
NM_006939.4(SOS2):c.2290A>G (p.Ser764Gly) rs779464455 0.00001
NC_000003.12:g.12589035_12766981dup
NM_002880.4(RAF1):c.1922C>G (p.Thr641Arg) rs587777587
NM_002880.4(RAF1):c.325_327del (p.Lys109del) rs1418886913
NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp) rs1554400237
NM_005633.4(SOS1):c.1074+1966C>G rs2124558711
NM_005633.4(SOS1):c.2930A>G (p.Gln977Arg) rs2124479522
NM_005633.4(SOS1):c.541G>A (p.Glu181Lys) rs1671148501
NM_005633.4(SOS1):c.743G>T (p.Arg248Leu) rs775052125
NM_006767.4(LZTR1):c.895_898del (p.Phe299fs) rs1924613524
NM_006939.4(SOS2):c.*234G>A rs2139461520
NM_006939.4(SOS2):c.164T>C (p.Leu55Pro) rs2139796125
NM_006939.4(SOS2):c.545G>T (p.Gly182Val) rs149487643

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