ClinVar Miner

List of variants reported as uncertain significance for Noonan syndrome by Invitae

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Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_006270.5(RRAS):c.49G>T (p.Gly17Trp) rs373359206 0.00026
NM_006270.5(RRAS):c.338G>A (p.Arg113Gln) rs766259420 0.00020
NM_006270.5(RRAS):c.344+6_344+7del rs755223611 0.00014
NM_006270.5(RRAS):c.371C>T (p.Thr124Met) rs369508242 0.00014
NM_006270.5(RRAS):c.631G>A (p.Gly211Arg) rs369588682 0.00011
NM_006270.5(RRAS):c.163G>A (p.Val55Met) rs368625677 0.00006
NM_006270.5(RRAS):c.409G>A (p.Val137Ile) rs757080959 0.00006
NM_006270.5(RRAS):c.38G>A (p.Arg13Gln) rs764597042 0.00004
NM_006270.5(RRAS):c.400G>A (p.Asp134Asn) rs374650566 0.00004
NM_006270.5(RRAS):c.453+5G>A rs766707816 0.00004
NM_006270.5(RRAS):c.481G>A (p.Gly161Ser) rs758697481 0.00004
NM_006270.5(RRAS):c.598C>T (p.Pro200Ser) rs548040971 0.00004
NM_006270.5(RRAS):c.646G>A (p.Val216Ile) rs748655822 0.00004
NM_006270.5(RRAS):c.175G>C (p.Asp59His) rs775437600 0.00003
NM_006270.5(RRAS):c.307G>A (p.Gly103Ser) rs745911237 0.00003
NM_006270.5(RRAS):c.352G>A (p.Glu118Lys) rs533583599 0.00003
NM_006270.5(RRAS):c.461G>A (p.Arg154Gln) rs1039650903 0.00003
NM_006270.5(RRAS):c.649C>G (p.Leu217Val) rs988964363 0.00003
NM_006270.5(RRAS):c.64G>T (p.Gly22Trp) rs754976061 0.00003
NM_006270.5(RRAS):c.10G>T (p.Gly4Trp) rs2081015843 0.00002
NM_006270.5(RRAS):c.232C>T (p.Arg78Trp) rs755565332 0.00002
NM_006270.5(RRAS):c.487T>C (p.Ser163Pro) rs1446034967 0.00002
NM_006270.5(RRAS):c.533A>G (p.Asn178Ser) rs762794552 0.00002
NM_006270.5(RRAS):c.573-16T>A rs756598983 0.00002
NM_006270.5(RRAS):c.627G>T (p.Lys209Asn) rs771557284 0.00002
NM_006270.5(RRAS):c.11G>C (p.Gly4Ala) rs1201865280 0.00001
NM_006270.5(RRAS):c.153+3A>G rs200100211 0.00001
NM_006270.5(RRAS):c.158A>T (p.Tyr53Phe) rs908791453 0.00001
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys) rs537601977 0.00001
NM_006270.5(RRAS):c.200C>T (p.Thr67Met) rs778415296 0.00001
NM_006270.5(RRAS):c.233G>A (p.Arg78Gln) rs1162722748 0.00001
NM_006270.5(RRAS):c.296G>A (p.Arg99His) rs1287689249 0.00001
NM_006270.5(RRAS):c.325G>A (p.Ala109Thr) rs1358894507 0.00001
NM_006270.5(RRAS):c.394C>T (p.Arg132Cys) rs773258112 0.00001
NM_006270.5(RRAS):c.422G>C (p.Gly141Ala) rs369240501 0.00001
NM_006270.5(RRAS):c.427A>T (p.Lys143Ter) rs896071517 0.00001
NM_006270.5(RRAS):c.448C>T (p.Arg150Cys) rs767209383 0.00001
NM_006270.5(RRAS):c.453+4C>T rs774803334 0.00001
NM_006270.5(RRAS):c.457C>A (p.Pro153Thr) rs1423079476 0.00001
NM_006270.5(RRAS):c.496G>A (p.Val166Met) rs151171681 0.00001
NM_006270.5(RRAS):c.509A>G (p.Glu170Gly) rs1162824119 0.00001
NM_006270.5(RRAS):c.515C>T (p.Ser172Leu) rs754342165 0.00001
NM_006270.5(RRAS):c.527G>A (p.Arg176His) rs556200895 0.00001
NM_006270.5(RRAS):c.535G>A (p.Val179Met) rs769754956 0.00001
NM_006270.5(RRAS):c.53G>A (p.Gly18Glu) rs1447937831 0.00001
NM_006270.5(RRAS):c.562C>T (p.Arg188Trp) rs538230538 0.00001
NM_006270.5(RRAS):c.614C>T (p.Ala205Val) rs1043558932 0.00001
NM_006270.5(RRAS):c.61C>T (p.Pro21Ser) rs1166281308 0.00001
NM_006270.5(RRAS):c.74C>T (p.Pro25Leu) rs558985706 0.00001
NM_006270.5(RRAS):c.115G>T (p.Gly39Cys) rs1349125359
NM_006270.5(RRAS):c.12_13delinsAA (p.Ala5Thr)
NM_006270.5(RRAS):c.147C>A (p.Phe49Leu) rs2081014653
NM_006270.5(RRAS):c.153+17C>A rs376005750
NM_006270.5(RRAS):c.182C>A (p.Thr61Asn)
NM_006270.5(RRAS):c.1A>G (p.Met1Val)
NM_006270.5(RRAS):c.1A>T (p.Met1Leu)
NM_006270.5(RRAS):c.209G>A (p.Cys70Tyr)
NM_006270.5(RRAS):c.227C>T (p.Pro76Leu) rs756447228
NM_006270.5(RRAS):c.241+5G>A rs2081000124
NM_006270.5(RRAS):c.241+6G>A rs925991568
NM_006270.5(RRAS):c.241+6G>C rs925991568
NM_006270.5(RRAS):c.253G>A (p.Ala85Thr)
NM_006270.5(RRAS):c.262del (p.Glu88fs)
NM_006270.5(RRAS):c.274G>A (p.Ala92Thr)
NM_006270.5(RRAS):c.289T>C (p.Tyr97His)
NM_006270.5(RRAS):c.28G>A (p.Gly10Arg)
NM_006270.5(RRAS):c.292A>G (p.Met98Val)
NM_006270.5(RRAS):c.295C>T (p.Arg99Cys)
NM_006270.5(RRAS):c.29G>C (p.Gly10Ala) rs2081015676
NM_006270.5(RRAS):c.2T>A (p.Met1Lys) rs928367564
NM_006270.5(RRAS):c.319G>A (p.Val107Met)
NM_006270.5(RRAS):c.337C>T (p.Arg113Trp)
NM_006270.5(RRAS):c.345-14G>A
NM_006270.5(RRAS):c.356T>G (p.Val119Gly) rs2122419368
NM_006270.5(RRAS):c.367T>A (p.Phe123Ile)
NM_006270.5(RRAS):c.371C>G (p.Thr124Arg) rs369508242
NM_006270.5(RRAS):c.382C>T (p.Arg128Trp) rs1379523599
NM_006270.5(RRAS):c.395G>A (p.Arg132His)
NM_006270.5(RRAS):c.412G>T (p.Val138Leu) rs2122419131
NM_006270.5(RRAS):c.436C>A (p.Leu146Met)
NM_006270.5(RRAS):c.449G>C (p.Arg150Pro) rs1017555483
NM_006270.5(RRAS):c.44G>A (p.Arg15Gln)
NM_006270.5(RRAS):c.44G>C (p.Arg15Pro)
NM_006270.5(RRAS):c.454-6C>T rs1568436933
NM_006270.5(RRAS):c.454G>A (p.Val152Ile)
NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs) rs760978291
NM_006270.5(RRAS):c.475G>C (p.Ala159Pro)
NM_006270.5(RRAS):c.484G>A (p.Ala162Thr)
NM_006270.5(RRAS):c.493C>G (p.His165Asp)
NM_006270.5(RRAS):c.498G>A (p.Val166=)
NM_006270.5(RRAS):c.50G>T (p.Gly17Val)
NM_006270.5(RRAS):c.526C>T (p.Arg176Cys) rs775719606
NM_006270.5(RRAS):c.533A>C (p.Asn178Thr)
NM_006270.5(RRAS):c.541G>A (p.Glu181Lys)
NM_006270.5(RRAS):c.541G>C (p.Glu181Gln) rs1428526675
NM_006270.5(RRAS):c.553C>A (p.Gln185Lys) rs2122416729
NM_006270.5(RRAS):c.560T>C (p.Val187Ala) rs1599813084
NM_006270.5(RRAS):c.563G>A (p.Arg188Gln) rs374621936
NM_006270.5(RRAS):c.571C>T (p.Arg191Trp)
NM_006270.5(RRAS):c.572+3G>A
NM_006270.5(RRAS):c.572+5G>A
NM_006270.5(RRAS):c.572G>A (p.Arg191Gln) rs759803129
NM_006270.5(RRAS):c.572G>T (p.Arg191Leu) rs759803129
NM_006270.5(RRAS):c.576A>G (p.Lys192=)
NM_006270.5(RRAS):c.599C>T (p.Pro200Leu)
NM_006270.5(RRAS):c.610A>G (p.Ser204Gly)
NM_006270.5(RRAS):c.623A>G (p.Lys208Arg) rs1568436746
NM_006270.5(RRAS):c.643T>C (p.Cys215Arg)
NM_006270.5(RRAS):c.67G>A (p.Asp23Asn) rs2081015208
NM_006270.5(RRAS):c.70C>T (p.Pro24Ser) rs2122429906
NM_006270.5(RRAS):c.74dup (p.Pro26fs) rs755237250
NM_006270.5(RRAS):c.77C>T (p.Pro26Leu)
NM_006270.5(RRAS):c.84G>C (p.Glu28Asp)
NM_006270.5(RRAS):c.98T>C (p.Val33Ala) rs2122429748

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