ClinVar Miner

List of variants reported as likely benign for Noonan syndrome

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 205
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HGVS dbSNP
NC_000002.12:g.38982255A>G
NC_000002.12:g.38982366T>G
NC_000002.12:g.38982457C>T
NC_000002.12:g.38983250T>C
NC_000002.12:g.38983307G>A
NC_000002.12:g.38983664G>A
NC_000002.12:g.38983686C>A
NC_000002.12:g.38984739T>C
NC_000002.12:g.38985780A>G
NM_001320141.2(RPL6):c.-326C>G rs377496292
NM_001354689.3(RAF1):c.*110T>C
NM_001354689.3(RAF1):c.*160C>T rs5746246
NM_001354689.3(RAF1):c.*404G>A
NM_001354689.3(RAF1):c.*495C>T rs12808
NM_001354689.3(RAF1):c.*556G>A rs187286358
NM_001354689.3(RAF1):c.*606A>G rs556460176
NM_001354689.3(RAF1):c.-267G>A rs116247741
NM_001354689.3(RAF1):c.119G>A (p.Arg40His) rs192632236
NM_001354689.3(RAF1):c.1689G>C (p.Thr563=) rs5746244
NM_001354689.3(RAF1):c.1815A>G (p.Val605=) rs3730296
NM_001354689.3(RAF1):c.1974G>A (p.Thr658=) rs144876026
NM_001354689.3(RAF1):c.2001C>T (p.Val667=) rs3730297
NM_001354689.3(RAF1):c.321-14T>A rs3730270
NM_001354689.3(RAF1):c.321-21dup rs202103447
NM_001354689.3(RAF1):c.983C>T (p.Pro328Leu) rs5746220
NM_001374258.1(BRAF):c.-19C>T rs71645935
NM_001374258.1(BRAF):c.1347A>G (p.Ser449=) rs145035762
NM_001374258.1(BRAF):c.1503A>G (p.Gln501=) rs56216404
NM_001374258.1(BRAF):c.2247+3A>G rs371976102
NM_001374258.1(BRAF):c.2355A>G (p.Leu785=) rs56046546
NM_001374258.1(BRAF):c.375T>G (p.Ser125=) rs201507202
NM_001374258.1(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_002524.4(NRAS):c.-208T>A rs2273267
NM_002524.5(NRAS):c.*2327C>T rs533027827
NM_002524.5(NRAS):c.*2464A>G rs140878667
NM_002524.5(NRAS):c.*2510_*2515del rs549171175
NM_002524.5(NRAS):c.*2517A>G
NM_002524.5(NRAS):c.*2784T>A rs374889066
NM_002524.5(NRAS):c.*2816T>C
NM_002524.5(NRAS):c.*2965del rs61652108
NM_002524.5(NRAS):c.*3219C>G rs72994441
NM_002524.5(NRAS):c.*3306A>G
NM_002524.5(NRAS):c.*3366G>T rs72994440
NM_002524.5(NRAS):c.*3499C>T rs147926293
NM_002524.5(NRAS):c.*3500G>A
NM_002524.5(NRAS):c.*416A>C rs9724643
NM_002524.5(NRAS):c.*583T>G rs555171083
NM_002524.5(NRAS):c.-50A>G rs61758211
NM_002524.5(NRAS):c.225C>T (p.Gly75=) rs142739534
NM_002524.5(NRAS):c.36T>G (p.Gly12=) rs759764705
NM_002755.3(MAP2K1):c.-216_-215dupCG rs141005341
NM_002755.3(MAP2K1):c.-408G>T rs536414539
NM_002755.3(MAP2K1):c.-448C>T rs73469977
NM_002755.3(MAP2K1):c.-85G>C rs112542693
NM_002755.3(MAP2K1):c.694-12TC[4] rs113913469
NM_002755.4(MAP2K1):c.-2A>G rs77796976
NM_002755.4(MAP2K1):c.-31dup rs730880340
NM_002755.4(MAP2K1):c.1023-8C>T rs41306345
NM_002755.4(MAP2K1):c.1072C>T (p.His358Tyr)
NM_002755.4(MAP2K1):c.322C>T (p.Arg108Trp)
NM_002755.4(MAP2K1):c.577C>G (p.Pro193Ala)
NM_002755.4(MAP2K1):c.872G>A (p.Arg291Lys)
NM_002755.4(MAP2K1):c.927A>T (p.Ala309=) rs146869577
NM_002834.4(PTPN11):c.*1006del rs146940557
NM_002834.4(PTPN11):c.*1157_*1159ATG[14] rs80269561
NM_002834.4(PTPN11):c.*1536T>C rs371375321
NM_002834.4(PTPN11):c.*1805C>T rs188162577
NM_002834.4(PTPN11):c.*3006G>A rs141870860
NM_002834.4(PTPN11):c.*3043C>T rs41307084
NM_002834.4(PTPN11):c.*329T>C rs576039073
NM_002834.4(PTPN11):c.*3381A>G rs374962107
NM_002834.4(PTPN11):c.*775G>A rs181946923
NM_002834.4(PTPN11):c.*838G>A rs142648640
NM_002834.4(PTPN11):c.1174G>A (p.Ala392Thr) rs774356443
NM_002834.4(PTPN11):c.933+25T>C rs727505386
NM_002834.4(PTPN11):c.951G>A (p.Lys317=) rs576405446
NM_002834.5(PTPN11):c.*2078G>A
NM_002834.5(PTPN11):c.*2629A>G
NM_002834.5(PTPN11):c.*801C>T
NM_002834.5(PTPN11):c.1620C>T (p.His540=) rs587781132
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.5(PTPN11):c.525+12G>C rs41304351
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312
NM_002880.3(RAF1):c.-415-1C>G rs61730434
NM_004333.6(BRAF):c.*111C>T rs539860876
NM_004333.6(BRAF):c.-5A>G rs71645936
NM_004333.6(BRAF):c.101C>T (p.Ala34Val)
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_004333.6(BRAF):c.36G>A (p.Ala12=) rs397507454
NM_005343.4(HRAS):c.451-4C>T
NM_005633.3(SOS1):c.*1333_*1336dup rs35969619
NM_005633.3(SOS1):c.*1516G>A rs550823381
NM_005633.3(SOS1):c.*1552T>A rs139679723
NM_005633.3(SOS1):c.*1606del rs34248802
NM_005633.3(SOS1):c.*1731A>G rs79270739
NM_005633.3(SOS1):c.*2244_*2245dup rs3832123
NM_005633.3(SOS1):c.*2439del rs377250198
NM_005633.3(SOS1):c.*2983C>T rs190454003
NM_005633.3(SOS1):c.*3592C>T rs550315455
NM_005633.3(SOS1):c.*399_*400insCA rs144104838
NM_005633.3(SOS1):c.*4221C>T rs565544523
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.1647A>G (p.Thr549=) rs139683425
NM_005633.3(SOS1):c.1705C>G (p.Leu569Val) rs200786705
NM_005633.3(SOS1):c.1964C>T (p.Pro655Leu) rs56219475
NM_005633.3(SOS1):c.2122G>A (p.Ala708Thr) rs140811086
NM_005633.3(SOS1):c.2167+6T>G rs186640807
NM_005633.3(SOS1):c.2511-13_2511-9del rs727503436
NM_005633.3(SOS1):c.2673+14T>C rs183998234
NM_005633.3(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671
NM_005633.3(SOS1):c.3391+7A>G rs201982464
NM_005633.3(SOS1):c.396A>T (p.Ala132=) rs727505385
NM_005633.3(SOS1):c.570C>T (p.Asp190=) rs55980502
NM_006049.4(SNAPC5):c.22-206G>T rs14303
NM_006049.4(SNAPC5):c.22-323C>A rs56366941
NM_006049.4(SNAPC5):c.22-555C>T rs8684
NM_006270.5(RRAS):c.145T>C (p.Phe49Leu) rs151014532
NM_006270.5(RRAS):c.154-4C>G rs372925843
NM_006270.5(RRAS):c.174C>T (p.Tyr58=) rs145282813
NM_006270.5(RRAS):c.201G>A (p.Thr67=) rs1421164782
NM_006270.5(RRAS):c.231C>A (p.Ala77=) rs557964716
NM_006270.5(RRAS):c.255G>A (p.Ala85=)
NM_006270.5(RRAS):c.345-4G>A
NM_006270.5(RRAS):c.362A>G (p.Lys121Arg) rs138124318
NM_006270.5(RRAS):c.372G>A (p.Thr124=)
NM_006270.5(RRAS):c.379C>T (p.Leu127=) rs145907892
NM_006270.5(RRAS):c.37C>A (p.Arg13=) rs1272875791
NM_006270.5(RRAS):c.454-9T>C rs1490597941
NM_006270.5(RRAS):c.516G>C (p.Ser172=)
NM_006270.5(RRAS):c.568G>C (p.Val190Leu) rs2230917
NM_006270.5(RRAS):c.600G>A (p.Pro200=) rs183538580
NM_006912.6(RIT1):c.107-9C>G
NM_006912.6(RIT1):c.237+10C>A rs367785615
NM_006912.6(RIT1):c.393T>C (p.Leu131=) rs34974790
NM_006912.6(RIT1):c.540G>A (p.Arg180=)
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549
NM_006939.4(SOS2):c.1176T>C (p.Tyr392=) rs1555370242
NM_006939.4(SOS2):c.147A>G (p.Glu49=) rs1030329651
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp) rs141604342
NM_006939.4(SOS2):c.1889G>A (p.Arg630His)
NM_006939.4(SOS2):c.195G>A (p.Arg65=)
NM_006939.4(SOS2):c.2154T>C (p.Ser718=) rs568511771
NM_006939.4(SOS2):c.2162-10C>T rs375702667
NM_006939.4(SOS2):c.2217G>A (p.Lys739=) rs186110427
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076
NM_006939.4(SOS2):c.2604C>T (p.Gly868=) rs765945171
NM_006939.4(SOS2):c.2640A>G (p.Ser880=) rs146730136
NM_006939.4(SOS2):c.2712A>G (p.Glu904=)
NM_006939.4(SOS2):c.2786-6T>A
NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn) rs200387871
NM_006939.4(SOS2):c.3088A>G (p.Thr1030Ala) rs550680554
NM_006939.4(SOS2):c.3250A>G (p.Thr1084Ala) rs150752193
NM_006939.4(SOS2):c.3503C>A (p.Ser1168Tyr) rs143166880
NM_006939.4(SOS2):c.3614C>T (p.Pro1205Leu)
NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys) rs138133010
NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del) rs775506222
NM_006939.4(SOS2):c.3769A>G (p.Asn1257Asp) rs150393358
NM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro) rs146802994
NM_006939.4(SOS2):c.3952C>T (p.Pro1318Ser) rs140995728
NM_006939.4(SOS2):c.396T>C (p.Ala132=)
NM_006939.4(SOS2):c.399A>C (p.Val133=)
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869
NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys)
NM_006939.4(SOS2):c.702G>A (p.Leu234=)
NM_006939.4(SOS2):c.837C>T (p.Ser279=) rs542617984
NM_006939.4(SOS2):c.859-10A>T rs761341096
NM_030662.3(MAP2K2):c.325C>G (p.Pro109Ala) rs1060502983
NM_030662.4(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277
NM_030662.4(MAP2K2):c.149A>G (p.Gln50Arg)
NM_033360.4(KRAS):c.*1094G>T rs61763590
NM_033360.4(KRAS):c.*1183G>A rs61763591
NM_033360.4(KRAS):c.*1204A>G rs7960917
NM_033360.4(KRAS):c.*1539_*1541del rs200038818
NM_033360.4(KRAS):c.*1661T>C rs61764366
NM_033360.4(KRAS):c.*1708T>C rs7973450
NM_033360.4(KRAS):c.*1748dup rs71065923
NM_033360.4(KRAS):c.*1758_*1759del rs535478558
NM_033360.4(KRAS):c.*1759A>G rs4597149
NM_033360.4(KRAS):c.*1776C>T rs7973623
NM_033360.4(KRAS):c.*1886T>C rs115968671
NM_033360.4(KRAS):c.*2305A>G rs61764368
NM_033360.4(KRAS):c.*2400dup rs56128001
NM_033360.4(KRAS):c.*2492C>T rs61764369
NM_033360.4(KRAS):c.*2626T>G rs61764370
NM_033360.4(KRAS):c.*298T>G rs712
NM_033360.4(KRAS):c.*3009A>G rs13096
NM_033360.4(KRAS):c.*3273G>A rs61764371
NM_033360.4(KRAS):c.*3385del rs34176876
NM_033360.4(KRAS):c.*3498C>T rs1137188
NM_033360.4(KRAS):c.*3522T>A rs1137189
NM_033360.4(KRAS):c.*3623T>A rs61764372
NM_033360.4(KRAS):c.*3804dup rs142323886
NM_033360.4(KRAS):c.*3881A>C rs1137196
NM_033360.4(KRAS):c.*3907A>G rs8720
NM_033360.4(KRAS):c.*4022A>C rs12587
NM_033360.4(KRAS):c.*4186_*4187del rs34719539
NM_033360.4(KRAS):c.*4200T>A rs12245
NM_033360.4(KRAS):c.*4426_*4427dup rs61764373
NM_033360.4(KRAS):c.*4432A>G rs61764374
NM_033360.4(KRAS):c.*44C>T rs1555192443
NM_033360.4(KRAS):c.*525T>C rs140080026
NM_033360.4(KRAS):c.*633T>C rs9266
NM_033360.4(KRAS):c.*73T>C rs1137282
NM_033360.4(KRAS):c.*945T>C rs61763589

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