ClinVar Miner

List of variants reported as benign for Noonan syndrome

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 186
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.2791+53C>T rs7577088 0.94549
NM_005633.4(SOS1):c.2964+43C>A rs1454223 0.94284
NM_005633.4(SOS1):c.*2567T>A rs6704656 0.94064
NM_005633.4(SOS1):c.720+25C>G rs997344 0.92897
NM_006939.4(SOS2):c.213+37C>G rs1075537 0.88797
NM_006939.4(SOS2):c.2667+43G>A rs2064667 0.87379
NM_006939.4(SOS2):c.1197-32G>A rs4900992 0.87236
NM_006939.4(SOS2):c.2057+34T>C rs3736761 0.83210
NM_006939.4(SOS2):c.2057+38C>T rs3736760 0.83188
NM_005633.4(SOS1):c.*1844A>G rs10166395 0.80685
NM_006912.6(RIT1):c.430-7C>T rs1749409 0.80479
NM_006912.6(RIT1):c.-21G>C rs493446 0.80472
NM_005633.4(SOS1):c.*3918T>C rs1043793 0.79061
NM_005633.4(SOS1):c.*3539T>C rs1037495 0.79060
NM_006270.5(RRAS):c.344+13G>A rs1368464 0.71978
NM_006270.5(RRAS):c.333C>T (p.Asn111=) rs1865077 0.71974
NM_006939.4(SOS2):c.2232C>T (p.Asn744=) rs2229869 0.60005
NM_005633.4(SOS1):c.*328A>G rs1059310 0.52005
NM_002834.5(PTPN11):c.1600-95C>T rs3741983 0.37076
NM_006939.4(SOS2):c.88-6T>C rs12888783 0.31349
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696 0.30796
NM_006270.5(RRAS):c.454-10C>G rs731861 0.23663
NM_002524.5(NRAS):c.*872C>T rs14804 0.20324
NM_006939.4(SOS2):c.3490-18A>C rs79858475 0.14981
NM_005633.4(SOS1):c.*805C>A rs1059313 0.14564
NM_002834.5(PTPN11):c.-273G>A rs58805176 0.10884
NM_004985.5(KRAS):c.451-9G>A rs12313763 0.08467
NM_002834.5(PTPN11):c.14+25G>C rs7972574 0.05545
NM_002834.5(PTPN11):c.854-21C>T rs41279090 0.05308
NM_005633.4(SOS1):c.*3724T>C rs11124658 0.04952
NM_002834.5(PTPN11):c.14+54C>A rs7973432 0.04259
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_006939.4(SOS2):c.1448G>A (p.Ser483Asn) rs17122201 0.02622
NM_005633.4(SOS1):c.3081+32A>G rs6723430 0.02350
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_006939.4(SOS2):c.816T>C (p.Ser272=) rs35396088 0.02130
NM_002834.5(PTPN11):c.*670G>A rs112287134 0.01588
NM_002880.4(RAF1):c.*348T>C rs5746247 0.01554
NM_002880.4(RAF1):c.-281C>G rs61761285 0.01090
NM_005633.4(SOS1):c.1203-20T>C rs112906251 0.01058
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_004333.6(BRAF):c.*387G>A rs114105685 0.00981
NM_006939.4(SOS2):c.2162-4C>A rs57179949 0.00961
NM_002834.5(PTPN11):c.854-30T>C rs144391508 0.00909
NM_002834.5(PTPN11):c.854-32A>C rs187389813 0.00867
NM_004333.6(BRAF):c.1315-18T>G rs6959000 0.00840
NM_002834.5(PTPN11):c.*1374G>C rs139266170 0.00836
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230 0.00834
NM_002834.5(PTPN11):c.*2927T>A rs190612693 0.00828
NM_002880.4(RAF1):c.1669-13T>C rs147475396 0.00819
NM_006912.6(RIT1):c.375C>T (p.Asp125=) rs34831194 0.00759
NM_006939.4(SOS2):c.3075+7C>T rs144391749 0.00743
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_005633.4(SOS1):c.*3458A>C rs114232209 0.00673
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502 0.00561
NM_002834.5(PTPN11):c.757-69T>C rs150087259 0.00468
NM_005633.4(SOS1):c.*3569T>C rs115465194 0.00421
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_005633.4(SOS1):c.345+15C>T rs75937422 0.00407
NM_006270.5(RRAS):c.397G>A (p.Asp133Asn) rs61760904 0.00394
NM_006270.5(RRAS):c.408C>T (p.Pro136=) rs114187560 0.00377
NM_006939.4(SOS2):c.1344G>A (p.Leu448=) rs35530861 0.00350
NM_005633.4(SOS1):c.3081+26G>A rs186106971 0.00284
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_005633.4(SOS1):c.3081+13A>G rs189695571 0.00223
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
NM_005633.4(SOS1):c.213+16T>C rs150536159 0.00128
NM_006939.4(SOS2):c.858+9A>G rs201701595 0.00101
NM_006939.4(SOS2):c.213+18A>T rs143888968 0.00096
NM_002524.5(NRAS):c.*3384C>T rs140049110 0.00091
NM_002880.4(RAF1):c.581+4A>G rs201776526 0.00087
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578 0.00083
NM_006270.5(RRAS):c.453+20C>T rs117957448 0.00071
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_006270.5(RRAS):c.243C>T (p.Ile81=) rs116683551 0.00063
NM_006939.4(SOS2):c.3602A>G (p.His1201Arg) rs555945363 0.00061
NM_006939.4(SOS2):c.621C>T (p.Ile207=) rs147109760 0.00061
NM_005633.4(SOS1):c.*44T>C rs182657531 0.00060
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123 0.00053
NM_006939.4(SOS2):c.700C>T (p.Leu234=) rs145848231 0.00053
NM_005633.4(SOS1):c.345+12_345+13dup rs397517167 0.00050
NM_005633.4(SOS1):c.1203-13T>A rs145166996 0.00049
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549 0.00046
NM_006939.4(SOS2):c.346-10C>G rs146395803 0.00046
NM_006939.4(SOS2):c.2162-10C>T rs375702667 0.00042
NM_006939.4(SOS2):c.2959-20T>C rs375042033 0.00041
NM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro) rs146802994 0.00041
NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn) rs200387871 0.00034
NM_006939.4(SOS2):c.2640A>G (p.Ser880=) rs146730136 0.00031
NM_006939.4(SOS2):c.3952C>T (p.Pro1318Ser) rs140995728 0.00029
NM_006939.4(SOS2):c.315G>T (p.Leu105=) rs141575190 0.00027
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_006939.4(SOS2):c.2712A>G (p.Glu904=) rs143332839 0.00020
NM_005633.4(SOS1):c.2964+17A>G rs201906525 0.00018
NM_005633.4(SOS1):c.87+15G>C rs375493196 0.00018
NM_006939.4(SOS2):c.3076-17A>T rs200184350 0.00018
NM_005633.4(SOS1):c.214-10A>G rs371447614 0.00017
NM_006912.6(RIT1):c.237+10C>A rs367785615 0.00015
NM_006939.4(SOS2):c.2057+19T>A rs544924513 0.00015
NM_006939.4(SOS2):c.2668-13T>C rs368749459 0.00014
NM_006939.4(SOS2):c.2625A>T (p.Ala875=) rs761442415 0.00013
NM_006939.4(SOS2):c.702G>A (p.Leu234=) rs200208472 0.00012
NM_006939.4(SOS2):c.2520A>G (p.Ala840=) rs775682587 0.00009
NM_006939.4(SOS2):c.3066A>G (p.Pro1022=) rs201696354 0.00009
NM_002834.5(PTPN11):c.1599+33A>G rs727505380 0.00008
NM_002524.5(NRAS):c.*740G>A rs372008962 0.00007
NM_006939.4(SOS2):c.2707G>A (p.Val903Met) rs745788940 0.00007
NM_002834.5(PTPN11):c.137+35G>A rs727505387 0.00006
NM_006912.6(RIT1):c.106+15C>T rs755316223 0.00006
NM_006939.4(SOS2):c.2605G>A (p.Val869Ile) rs373143128 0.00006
NM_006939.4(SOS2):c.2700C>T (p.Asp900=) rs369410641 0.00006
NM_006939.4(SOS2):c.2959-16A>G rs147830734 0.00006
NM_006939.4(SOS2):c.36C>T (p.Ser12=) rs377290612 0.00006
NM_006939.4(SOS2):c.720C>T (p.Ile240=) rs373852615 0.00006
NM_006939.4(SOS2):c.121A>G (p.Asn41Asp) rs575983927 0.00005
NM_006939.4(SOS2):c.338C>T (p.Ser113Leu) rs751240491 0.00004
NM_006939.4(SOS2):c.3520G>A (p.Ala1174Thr) rs935249167 0.00004
NM_006939.4(SOS2):c.3553G>T (p.Val1185Leu) rs778368766 0.00004
NM_006939.4(SOS2):c.970-19A>G rs369274700 0.00004
NM_005633.4(SOS1):c.510+9C>G rs553448375 0.00003
NM_006939.4(SOS2):c.2668-4T>C rs763298498 0.00003
NM_006939.4(SOS2):c.3641A>T (p.Asp1214Val) rs772043913 0.00002
NM_002834.5(PTPN11):c.1599+26G>A rs727505390 0.00001
NM_005633.4(SOS1):c.3347-20T>G rs727505382 0.00001
NM_005633.4(SOS1):c.87+9C>T rs397517179 0.00001
NM_006939.4(SOS2):c.1732A>G (p.Lys578Glu) rs748480687 0.00001
NM_006939.4(SOS2):c.3502T>C (p.Ser1168Pro) rs756607027 0.00001
NM_006939.4(SOS2):c.3944C>T (p.Ser1315Leu) rs865922330 0.00001
NM_002524.5(NRAS):c.*346G>A rs9724642
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002834.3:c.1-140delG
NM_002834.5(PTPN11):c.15-38C>T rs727505378
NM_002880.4(RAF1):c.*266C>T rs1051208
NM_002880.4(RAF1):c.*83C>T rs2229757
NM_002880.4(RAF1):c.1108+9_1108+21del rs727504451
NM_005633.3:c.213+15C>G
NM_005633.4(SOS1):c.*1333_*1336dup rs35969619
NM_005633.4(SOS1):c.2167+16del rs79984786
NM_005633.4(SOS1):c.2167+16dup rs79984786
NM_005633.4(SOS1):c.2511-9del rs727503436
NM_005633.4(SOS1):c.2674-22C>G rs61601281
NM_005633.4(SOS1):c.2792-50dup rs869215095
NM_005633.4(SOS1):c.2964+32T>G rs727505384
NM_006270.5(RRAS):c.454-10dup
NM_006270.5(RRAS):c.54A>T (p.Gly18=) rs571103858
NM_006939.4(SOS2):c.1069-6dup rs756206186
NM_006939.4(SOS2):c.1197-5del
NM_006939.4(SOS2):c.1243C>T (p.Leu415=)
NM_006939.4(SOS2):c.1263T>C (p.Asn421=) rs369267864
NM_006939.4(SOS2):c.1833A>G (p.Leu611=)
NM_006939.4(SOS2):c.1935-20C>G rs376985307
NM_006939.4(SOS2):c.2057+19_2057+20del rs111970905
NM_006939.4(SOS2):c.2057+20del rs111970905
NM_006939.4(SOS2):c.2217G>A (p.Lys739=) rs186110427
NM_006939.4(SOS2):c.2786-18_2786-17dup rs201957103
NM_006939.4(SOS2):c.2786-18dup rs201957103
NM_006939.4(SOS2):c.2786-6del rs201957103
NM_006939.4(SOS2):c.2854G>T (p.Asp952Tyr)
NM_006939.4(SOS2):c.3151A>G (p.Thr1051Ala)
NM_006939.4(SOS2):c.3338-14del rs1362501070
NM_006939.4(SOS2):c.3380-10del rs749810829
NM_006939.4(SOS2):c.3481A>G (p.Asn1161Asp)
NM_006939.4(SOS2):c.3490-13_3490-11dup rs10658395
NM_006939.4(SOS2):c.3490-13_3490-12dup rs10658395
NM_006939.4(SOS2):c.3490-13dup rs10658395
NM_006939.4(SOS2):c.3490-4del rs10658395
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup) rs765097073
NM_006939.4(SOS2):c.3813G>A (p.Pro1271=) rs2227276
NM_006939.4(SOS2):c.3818G>A (p.Arg1273Gln) rs58365465
NM_006939.4(SOS2):c.3934C>A (p.Arg1312=) rs775973831
NM_006939.4(SOS2):c.3952C>G (p.Pro1318Ala)
NM_006939.4(SOS2):c.399A>C (p.Val133=) rs144584870
NM_006939.4(SOS2):c.564A>G (p.Glu188=)
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) rs61755579
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser) rs61755579
NM_006939.4(SOS2):c.705T>G (p.Phe235Leu)
NM_006939.4(SOS2):c.714+14del rs2139733668
NM_006939.4(SOS2):c.859-19del
NM_006939.4(SOS2):c.859-4del rs776327707
NM_006939.4(SOS2):c.934T>C (p.Leu312=)
NM_012250.6(RRAS2):c.409-16A>T rs2303972

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