ClinVar Miner

List of variants reported as likely benign for Noonan syndrome 9 by Genome-Nilou Lab

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_006939.4(SOS2):c.3614C>T (p.Pro1205Leu) rs113660113 0.00071
NM_006939.4(SOS2):c.3250A>G (p.Thr1084Ala) rs150752193 0.00045
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076 0.00041
NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys) rs138133010 0.00041
NM_006939.4(SOS2):c.969+20T>G rs559272877 0.00041
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp) rs141604342 0.00040
NM_006939.4(SOS2):c.3503C>A (p.Ser1168Tyr) rs143166880 0.00038
NM_006939.4(SOS2):c.294A>G (p.Lys98=) rs149713664 0.00027
NM_006939.4(SOS2):c.3769A>G (p.Asn1257Asp) rs150393358 0.00020
NM_006939.4(SOS2):c.2010A>G (p.Ala670=) rs147081547 0.00019
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys) rs148595463 0.00016
NM_006939.4(SOS2):c.195G>A (p.Arg65=) rs1803661 0.00013
NM_006939.4(SOS2):c.2328A>G (p.Thr776=) rs116162949 0.00013
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala) rs550680554 0.00010
NM_006939.4(SOS2):c.3066A>G (p.Pro1022=) rs201696354 0.00009
NM_006939.4(SOS2):c.3729C>T (p.His1243=) rs761917783 0.00008
NM_006939.4(SOS2):c.1198G>A (p.Asp400Asn) rs200368064 0.00006
NM_006939.4(SOS2):c.720C>T (p.Ile240=) rs373852615 0.00006
NM_006939.4(SOS2):c.147A>G (p.Glu49=) rs1030329651 0.00004
NM_006939.4(SOS2):c.1584T>C (p.Ser528=) rs374642561 0.00004
NM_006939.4(SOS2):c.2220A>C (p.Gln740His) rs576277421 0.00004
NM_006939.4(SOS2):c.644G>A (p.Arg215Gln) rs538341032 0.00004
NM_006939.4(SOS2):c.837C>T (p.Ser279=) rs542617984 0.00004
NM_006939.4(SOS2):c.1005T>C (p.Tyr335=) rs753698896 0.00003
NM_006939.4(SOS2):c.1356T>C (p.Gly452=) rs746956553 0.00003
NM_006939.4(SOS2):c.2604C>T (p.Gly868=) rs765945171 0.00003
NM_006939.4(SOS2):c.3606T>C (p.Ser1202=) rs539432390 0.00003
NM_006939.4(SOS2):c.3981T>C (p.Asn1327=) rs527576404 0.00003
NM_006939.4(SOS2):c.540C>T (p.Asp180=) rs189555369 0.00003
NM_006939.4(SOS2):c.63A>G (p.Gly21=) rs761849560 0.00003
NM_006939.4(SOS2):c.1392C>T (p.Gly464=) rs188355135 0.00002
NM_006939.4(SOS2):c.1669T>C (p.Leu557=) rs370600053 0.00002
NM_006939.4(SOS2):c.2049A>G (p.Val683=) rs748361433 0.00002
NM_006939.4(SOS2):c.1059G>A (p.Glu353=) rs1231657921 0.00001
NM_006939.4(SOS2):c.1211C>T (p.Pro404Leu) rs201265921 0.00001
NM_006939.4(SOS2):c.1326C>T (p.Phe442=) rs150365706 0.00001
NM_006939.4(SOS2):c.1446T>C (p.Ser482=) rs1468565433 0.00001
NM_006939.4(SOS2):c.1458C>T (p.Tyr486=) rs199651967 0.00001
NM_006939.4(SOS2):c.1839T>C (p.Tyr613=) rs780152724 0.00001
NM_006939.4(SOS2):c.2184A>C (p.Val728=) rs776046903 0.00001
NM_006939.4(SOS2):c.2253C>T (p.Thr751=) rs1050544302 0.00001
NM_006939.4(SOS2):c.2643A>G (p.Val881=) rs1329137002 0.00001
NM_006939.4(SOS2):c.2916T>C (p.Tyr972=) rs979918396 0.00001
NM_006939.4(SOS2):c.3279A>C (p.Pro1093=) rs780697283 0.00001
NM_006939.4(SOS2):c.3531G>A (p.Pro1177=) rs1248324702 0.00001
NM_006939.4(SOS2):c.3573T>G (p.Val1191=) rs756940411 0.00001
NM_006939.4(SOS2):c.360C>T (p.Tyr120=) rs762044455 0.00001
NM_006939.4(SOS2):c.3774G>A (p.Ser1258=) rs747521589 0.00001
NM_006939.4(SOS2):c.3954A>G (p.Pro1318=) rs751408063 0.00001
NM_006939.4(SOS2):c.396T>C (p.Ala132=) rs774402309 0.00001
NM_006939.4(SOS2):c.3984A>G (p.Ala1328=) rs776266602 0.00001
NM_006939.4(SOS2):c.804T>C (p.Thr268=) rs750437794 0.00001
NM_006939.4(SOS2):c.813C>T (p.Ser271=) rs371598827 0.00001
NM_006939.4(SOS2):c.1024C>T (p.Leu342=) rs1033098930
NM_006939.4(SOS2):c.1341A>G (p.Pro447=) rs761540894
NM_006939.4(SOS2):c.1767C>T (p.Asn589=) rs1427742827
NM_006939.4(SOS2):c.1815G>T (p.Val605=) rs966907268
NM_006939.4(SOS2):c.2057+19_2057+20del rs111970905
NM_006939.4(SOS2):c.2397G>A (p.Pro799=) rs770022419
NM_006939.4(SOS2):c.3360A>C (p.Pro1120=) rs147513220
NM_006939.4(SOS2):c.3762G>A (p.Thr1254=) rs769536087
NM_006939.4(SOS2):c.399A>G (p.Val133=) rs144584870
NM_006939.4(SOS2):c.846A>G (p.Glu282=) rs776312082

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