ClinVar Miner

List of variants studied for Noonan syndrome 9 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn) rs17122201 0.02622
NM_006939.4(SOS2):c.2162-4C>A rs57179949 0.00961
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230 0.00834
NM_006939.4(SOS2):c.3075+7C>T rs144391749 0.00743
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502 0.00561
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_006939.4(SOS2):c.858+9A>G rs201701595 0.00101
NM_006939.4(SOS2):c.213+18A>T rs143888968 0.00096
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578 0.00083
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549 0.00046
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076 0.00041
NM_006939.4(SOS2):c.2712A>G (p.Glu904=) rs143332839 0.00020
NM_006939.4(SOS2):c.702G>A (p.Leu234=) rs200208472 0.00012
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser) rs561495878 0.00009
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser) rs139401491 0.00002
NM_006939.4(SOS2):c.1125T>C (p.Ile375=) rs1885009611
NM_006939.4(SOS2):c.2057+19_2057+20del rs111970905
NM_006939.4(SOS2):c.346-5C>T
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
NM_006939.4(SOS2):c.775G>A (p.Gly259Ser)

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