ClinVar Miner

List of variants reported as likely benign for Noonan syndrome 4 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.*1731A>G rs79270739 0.01859
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_005633.4(SOS1):c.*3458A>C rs114232209 0.00673
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_005633.4(SOS1):c.2167+6T>G rs186640807 0.00510
NM_005633.4(SOS1):c.*3569T>C rs115465194 0.00421
NM_005633.4(SOS1):c.*2983C>T rs190454003 0.00352
NM_005633.4(SOS1):c.*2517C>T rs150628082 0.00321
NM_005633.4(SOS1):c.2673+14T>C rs183998234 0.00304
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_005633.4(SOS1):c.*2160C>T rs116651056 0.00276
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671 0.00164
NM_005633.4(SOS1):c.*3592C>T rs550315455 0.00113
NM_005633.4(SOS1):c.*3367G>A rs145904123 0.00108
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_005633.4(SOS1):c.*44T>C rs182657531 0.00060
NM_005633.4(SOS1):c.*1085A>G rs539192287 0.00039
NM_005633.4(SOS1):c.*1552T>A rs139679723 0.00021
NM_005633.4(SOS1):c.1647A>G (p.Thr549=) rs139683425 0.00011
NM_005633.4(SOS1):c.*4221C>T rs565544523 0.00008
NM_005633.4(SOS1):c.*1516G>A rs550823381 0.00006
NM_005633.4(SOS1):c.*2138G>T rs184227916
NM_005633.4(SOS1):c.*2574A>G rs539933930

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