ClinVar Miner

List of variants reported as benign for Noonan syndrome and Noonan-related syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.*2567T>A rs6704656 0.94064
NM_152594.3(SPRED1):c.291G>A (p.Lys97=) rs7182445 0.82029
NM_152594.3(SPRED1):c.424-8C>A rs7180446 0.82015
NM_152594.3(SPRED1):c.1044T>C (p.Val348=) rs3751526 0.81965
NM_005633.4(SOS1):c.*1844A>G rs10166395 0.80685
NM_005633.4(SOS1):c.*3918T>C rs1043793 0.79061
NM_005633.4(SOS1):c.*3539T>C rs1037495 0.79060
NM_152594.3(SPRED1):c.*4662T>A rs10852019 0.77666
NM_152594.3(SPRED1):c.*5110C>T rs8026118 0.76725
NM_005633.4(SOS1):c.*328A>G rs1059310 0.52005
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696 0.30796
NM_152594.3(SPRED1):c.*3830G>A rs8039150 0.22628
NM_002524.5(NRAS):c.*872C>T rs14804 0.20324
NM_152594.3(SPRED1):c.*4932A>G rs16966843 0.20289
NM_152594.3(SPRED1):c.*2831G>A rs35490364 0.19653
NM_005633.4(SOS1):c.*805C>A rs1059313 0.14564
NM_152594.3(SPRED1):c.*3521A>G rs11634702 0.11111
NM_002834.3(PTPN11):c.-273G>A rs58805176 0.10884
NM_152594.3(SPRED1):c.*1724A>C rs1554527 0.08749
NM_152594.3(SPRED1):c.*3996G>A rs72725364 0.08710
NM_004985.5(KRAS):c.451-9G>A rs12313763 0.08467
NM_007373.4(SHOC2):c.*1503A>G rs1327552 0.06997
NM_007373.4(SHOC2):c.*1487del rs143768227 0.06116
NM_005633.4(SOS1):c.*3724T>C rs11124658 0.04952
NM_152594.3(SPRED1):c.*248T>C rs16966842 0.04503
NM_002834.5(PTPN11):c.1093-9C>A rs12301915 0.04151
NM_005633.4(SOS1):c.195A>C (p.Arg65=) rs7609455 0.03809
NM_002524.5(NRAS):c.*687A>G rs9724644 0.02952
NM_002524.5(NRAS):c.*2662G>A rs148827219 0.02701
NM_002524.5(NRAS):c.*2667T>C rs145382662 0.02698
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_002834.5(PTPN11):c.*670G>A rs112287134 0.01588
NM_002880.4(RAF1):c.*348T>C rs5746247 0.01554
NM_007373.4(SHOC2):c.457C>T (p.Leu153=) rs34081996 0.01281
NM_002834.5(PTPN11):c.*801C>T rs138246203 0.01271
NM_152594.3(SPRED1):c.*256C>T rs145373657 0.01162
NM_004333.6(BRAF):c.-19C>T rs71645935 0.01115
NM_002880.4(RAF1):c.-281C>G rs61761285 0.01090
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_004333.6(BRAF):c.*387G>A rs114105685 0.00981
NM_152594.3(SPRED1):c.*3698T>G rs76527876 0.00908
NM_002834.5(PTPN11):c.*1374G>C rs139266170 0.00836
NM_002834.5(PTPN11):c.*2927T>A rs190612693 0.00828
NM_002880.4(RAF1):c.1669-13T>C rs147475396 0.00819
NM_002880.4(RAF1):c.1941C>T (p.Val647=) rs3730297 0.00729
NM_152594.3(SPRED1):c.-93C>T rs192699510 0.00724
NM_007373.4(SHOC2):c.*773G>A rs114628508 0.00719
NM_152594.3(SPRED1):c.-244T>C rs138385793 0.00693
NM_002834.5(PTPN11):c.*3043C>T rs41307084 0.00647
NM_002834.5(PTPN11):c.*3006G>A rs141870860 0.00646
NM_152594.3(SPRED1):c.583-7A>G rs115970207 0.00630
NM_152594.3(SPRED1):c.*427A>T rs185290497 0.00592
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_007373.4(SHOC2):c.*697C>T rs189140753 0.00453
NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534 0.00423
NM_004333.6(BRAF):c.1383A>G (p.Gln461=) rs56216404 0.00399
NM_002880.4(RAF1):c.*495C>T rs12808 0.00354
NM_002880.4(RAF1):c.*190G>A rs528863135 0.00335
NM_007373.4(SHOC2):c.-159T>C rs72819758 0.00305
NM_002834.5(PTPN11):c.*325G>A rs192080780 0.00304
NM_002880.4(RAF1):c.*160C>T rs5746246 0.00295
NM_007373.4(SHOC2):c.*164T>A rs191293913 0.00283
NM_152594.3(SPRED1):c.*2742G>T rs149336440 0.00260
NM_152594.3(SPRED1):c.*5398G>T rs115003524 0.00257
NM_002834.5(PTPN11):c.*775G>A rs181946923 0.00230
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00204
NM_002834.5(PTPN11):c.*2078G>A rs144513512 0.00193
NM_007373.4(SHOC2):c.*1775T>C rs535776105 0.00157
NM_007373.4(SHOC2):c.*1483G>A rs180979375 0.00128
NM_002880.4(RAF1):c.*110T>C rs550188508 0.00112
NM_007373.4(SHOC2):c.*3T>C rs143187497 0.00097
NM_002524.5(NRAS):c.*3384C>T rs140049110 0.00091
NM_002880.4(RAF1):c.1830A>G (p.Gln610=) rs141791080 0.00088
NM_007373.4(SHOC2):c.-179T>A rs143180451 0.00080
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602 0.00068
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_004333.6(BRAF):c.2127+3A>G rs371976102 0.00043
NM_002834.5(PTPN11):c.*838G>A rs142648640 0.00035
NM_002834.5(PTPN11):c.*1805C>T rs188162577 0.00033
NM_002880.4(RAF1):c.321-14T>A rs3730270 0.00032
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546 0.00030
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227 0.00029
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_002880.4(RAF1):c.909A>C (p.Thr303=) rs5746219 0.00025
NM_004333.6(BRAF):c.-5A>G rs71645936 0.00024
NM_002880.4(RAF1):c.125C>T (p.Ala42Val) rs11549992 0.00021
NM_007373.4(SHOC2):c.*1323C>T rs371721188 0.00021
NM_007373.4(SHOC2):c.841+12G>A rs201258692 0.00019
NM_002880.4(RAF1):c.119G>A (p.Arg40His) rs192632236 0.00016
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_002880.4(RAF1):c.*556G>A rs187286358 0.00014
NM_002880.4(RAF1):c.680+6T>C rs371846795 0.00014
NM_002880.4(RAF1):c.*404G>A rs150460686 0.00013
NM_007373.4(SHOC2):c.*16C>A rs753327392 0.00013
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_007373.4(SHOC2):c.*1106A>C rs118172559 0.00010
NM_002834.3(PTPN11):c.-287G>C rs377496292 0.00009
NM_007373.4(SHOC2):c.1161+9A>G rs201795589 0.00008
NM_002524.5(NRAS):c.*740G>A rs372008962 0.00007
NM_007373.4(SHOC2):c.1239G>T (p.Gln413His) rs200215822 0.00006
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val) rs200015085 0.00006
NM_007373.4(SHOC2):c.*20C>T rs371005619 0.00005
NM_002834.5(PTPN11):c.*3381A>G rs374962107 0.00003
NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr) rs397507528 0.00003
NM_004333.6(BRAF):c.1068A>G (p.Gln356=) rs143335467 0.00003
NM_004333.6(BRAF):c.1694+14G>A rs184144181 0.00003
NM_004333.6(BRAF):c.708C>T (p.Asn236=) rs138333692 0.00003
NM_007373.4(SHOC2):c.*914G>A rs189223963 0.00002
NM_002834.5(PTPN11):c.*329T>C rs576039073 0.00001
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287 0.00001
NM_002834.5(PTPN11):c.951G>A (p.Lys317=) rs576405446 0.00001
NM_002880.4(RAF1):c.1914G>A (p.Thr638=) rs144876026 0.00001
NM_002524.5(NRAS):c.*346G>A rs9724642
NM_002834.5(PTPN11):c.*1536T>C rs371375321
NM_002834.5(PTPN11):c.*2629A>G rs141655134
NM_002834.5(PTPN11):c.1221A>G (p.Gly407=) rs532529560
NM_002834.5(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002880.4(RAF1):c.*266C>T rs1051208
NM_002880.4(RAF1):c.*606A>G rs556460176
NM_002880.4(RAF1):c.*83C>T rs2229757
NM_002880.4(RAF1):c.-267G>A rs116247741
NM_002880.4(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_004333.6(BRAF):c.*111C>T rs539860876
NM_007373.4(SHOC2):c.973-5del rs730881016
NM_152594.3(SPRED1):c.*3946G>A rs8039337

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