ClinVar Miner

List of variants reported as benign for Noonan syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.2791+53C>T rs7577088 0.94549
NM_005633.4(SOS1):c.720+25C>G rs997344 0.92897
NM_002834.5(PTPN11):c.1600-95C>T rs3741983 0.37076
NM_002834.5(PTPN11):c.14+25G>C rs7972574 0.05545
NM_002834.5(PTPN11):c.854-21C>T rs41279090 0.05308
NM_002834.5(PTPN11):c.14+54C>A rs7973432 0.04259
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn) rs17122201 0.02622
NM_005633.4(SOS1):c.3081+32A>G rs6723430 0.02350
NM_005633.4(SOS1):c.1203-20T>C rs112906251 0.01058
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_006939.4(SOS2):c.2162-4C>A rs57179949 0.00961
NM_002834.5(PTPN11):c.854-30T>C rs144391508 0.00909
NM_002834.5(PTPN11):c.854-32A>C rs187389813 0.00867
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230 0.00834
NM_006912.6(RIT1):c.375C>T (p.Asp125=) rs34831194 0.00759
NM_006939.4(SOS2):c.3075+7C>T rs144391749 0.00743
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_002834.5(PTPN11):c.757-69T>C rs150087259 0.00468
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_006939.4(SOS2):c.1344G>A (p.Leu448=) rs35530861 0.00350
NM_005633.4(SOS1):c.3081+26G>A rs186106971 0.00284
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
NM_006939.4(SOS2):c.858+9A>G rs201701595 0.00101
NM_006939.4(SOS2):c.213+18A>T rs143888968 0.00096
NM_002834.5(PTPN11):c.1599+33A>G rs727505380 0.00008
NM_002834.5(PTPN11):c.137+35G>A rs727505387 0.00006
NM_002834.5(PTPN11):c.1599+26G>A rs727505390 0.00001
NM_005633.4(SOS1):c.3347-20T>G rs727505382 0.00001
NM_002834.3:c.1-140delG
NM_002834.5(PTPN11):c.15-38C>T rs727505378
NM_005633.3:c.213+15C>G
NM_005633.4(SOS1):c.2964+32T>G rs727505384
NM_006939.4(SOS2):c.2057+19_2057+20del rs111970905
NM_006939.4(SOS2):c.3490-13_3490-12dup rs10658395
NM_006939.4(SOS2):c.3490-4del rs10658395
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) rs61755579

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