ClinVar Miner

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

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Total variants: 22
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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_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_002834.5(PTPN11):c.854-30T>C rs144391508 0.00909
NM_002834.5(PTPN11):c.854-32A>C rs187389813 0.00867
NM_002834.5(PTPN11):c.757-69T>C rs150087259 0.00468
NM_005633.4(SOS1):c.3081+26G>A rs186106971 0.00284
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
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

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