ClinVar Miner

List of variants reported as likely benign for benign soft tissue neoplasm

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 198
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu) rs11670799 0.01273
NM_000435.3(NOTCH3):c.1782C>T (p.Gly594=) rs35793356 0.01231
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213 0.00841
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu) rs114207045 0.00755
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=) rs140040122 0.00306
NM_000435.3(NOTCH3):c.2411-4C>G rs190177286 0.00295
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val) rs114435947 0.00259
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511 0.00217
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His) rs75291244 0.00213
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00184
NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr) rs2229560 0.00130
NM_000435.3(NOTCH3):c.660C>T (p.Tyr220=) rs114457076 0.00091
NM_002609.4(PDGFRB):c.1504C>T (p.Arg502Trp) rs142992960 0.00069
NM_002609.4(PDGFRB):c.2655C>T (p.Asp885=) rs144234864 0.00043
NM_002609.4(PDGFRB):c.263C>T (p.Thr88Ile) rs147303614 0.00033
NM_002609.4(PDGFRB):c.2199C>T (p.Thr733=) rs192355633 0.00032
NM_002609.4(PDGFRB):c.1279C>T (p.Pro427Ser) rs199873101 0.00031
NM_002609.4(PDGFRB):c.17C>T (p.Ala6Val) rs150173975 0.00023
NM_002609.4(PDGFRB):c.499G>A (p.Val167Ile) rs144857517 0.00020
NM_002609.4(PDGFRB):c.2466C>T (p.Cys822=) rs55830572 0.00019
NM_000435.3(NOTCH3):c.3328-8C>A rs200360207 0.00017
NM_000435.3(NOTCH3):c.3692G>A (p.Arg1231His) rs778176344 0.00017
NM_002609.4(PDGFRB):c.1818C>T (p.Leu606=) rs199649903 0.00013
NM_002609.4(PDGFRB):c.3204C>T (p.Asp1068=) rs141511317 0.00013
NM_000435.3(NOTCH3):c.135C>T (p.Asp45=) rs370177269 0.00012
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) rs148716935 0.00011
NM_002609.4(PDGFRB):c.1114G>A (p.Val372Met) rs371975483 0.00011
NM_002609.4(PDGFRB):c.1520G>A (p.Arg507His) rs145823245 0.00011
NM_000435.3(NOTCH3):c.4560G>T (p.Pro1520=) rs370010007 0.00010
NM_002609.4(PDGFRB):c.2960G>A (p.Arg987Gln) rs35731372 0.00010
NM_002609.4(PDGFRB):c.2972G>A (p.Arg991His) rs75748462 0.00010
NM_002609.4(PDGFRB):c.2058C>T (p.Tyr686=) rs753622898 0.00009
NM_002609.4(PDGFRB):c.42C>T (p.Gly14=) rs145316660 0.00008
NM_002609.4(PDGFRB):c.963G>A (p.Glu321=) rs773441060 0.00007
NM_002609.4(PDGFRB):c.1526C>T (p.Thr509Met) rs766614995 0.00006
NM_002609.4(PDGFRB):c.18G>A (p.Ala6=) rs201570042 0.00006
NM_002609.4(PDGFRB):c.377G>A (p.Gly126Asp) rs371293050 0.00006
NM_000435.3(NOTCH3):c.4413C>T (p.Tyr1471=) rs920286007 0.00005
NM_002609.4(PDGFRB):c.968G>A (p.Gly323Asp) rs374208706 0.00005
NM_000435.3(NOTCH3):c.825G>A (p.Val275=) rs138837495 0.00004
NM_002609.4(PDGFRB):c.1243+18C>T rs199897509 0.00004
NM_002609.4(PDGFRB):c.1536C>T (p.Asn512=) rs186555112 0.00004
NM_002609.4(PDGFRB):c.2268C>T (p.Asp756=) rs56112987 0.00004
NM_002609.4(PDGFRB):c.2484G>A (p.Ala828=) rs143342011 0.00004
NM_002609.4(PDGFRB):c.2919G>A (p.Val973=) rs370594710 0.00004
NM_002609.4(PDGFRB):c.3033C>T (p.Ala1011=) rs375836509 0.00004
NM_002609.4(PDGFRB):c.330C>T (p.Thr110=) rs755333624 0.00004
NM_002609.4(PDGFRB):c.331G>A (p.Asp111Asn) rs558122968 0.00004
NM_000435.3(NOTCH3):c.4782G>C (p.Ser1594=) rs748774860 0.00003
NM_002609.4(PDGFRB):c.1217A>G (p.Gln406Arg) rs374802057 0.00003
NM_002609.4(PDGFRB):c.164C>T (p.Ser55Leu) rs147952898 0.00003
NM_002609.4(PDGFRB):c.1971C>T (p.His657=) rs138486655 0.00003
NM_002609.4(PDGFRB):c.2997A>T (p.Arg999=) rs776113877 0.00003
NM_002609.4(PDGFRB):c.729C>T (p.Val243=) rs758566697 0.00003
NM_002609.4(PDGFRB):c.168T>A (p.Gly56=) rs532483221 0.00002
NM_002609.4(PDGFRB):c.3297G>A (p.Ala1099=) rs376978985 0.00002
NM_002609.4(PDGFRB):c.541G>A (p.Gly181Ser) rs574853772 0.00002
NM_002609.4(PDGFRB):c.657C>T (p.Asn219=) rs745467275 0.00002
NM_000435.3(NOTCH3):c.4974C>T (p.Leu1658=) rs749616364 0.00001
NM_002609.4(PDGFRB):c.1472T>C (p.Val491Ala) rs540480924 0.00001
NM_002609.4(PDGFRB):c.1884G>A (p.Thr628=) rs201518972 0.00001
NM_002609.4(PDGFRB):c.2238C>T (p.Asp746=) rs555800957 0.00001
NM_002609.4(PDGFRB):c.2326G>A (p.Asp776Asn) rs751904503 0.00001
NM_002609.4(PDGFRB):c.2467G>A (p.Val823Ile) rs377442091 0.00001
NM_002609.4(PDGFRB):c.2890G>A (p.Glu964Lys) rs747398617 0.00001
NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met) rs138830253 0.00001
NM_002609.4(PDGFRB):c.438C>A (p.Thr146=) rs764023871 0.00001
NM_002609.4(PDGFRB):c.615T>C (p.Tyr205=) rs756283680 0.00001
NM_002609.4(PDGFRB):c.726G>C (p.Val242=) rs149027530 0.00001
NM_002609.4(PDGFRB):c.783G>A (p.Val261=) rs142649064 0.00001
NM_002609.4(PDGFRB):c.858G>A (p.Ser286=) rs778116813 0.00001
NM_000435.3(NOTCH3):c.2410+15dup rs747731340
NM_002609.4(PDGFRB):c.1008G>A (p.Leu336=)
NM_002609.4(PDGFRB):c.1057G>C (p.Asp353His)
NM_002609.4(PDGFRB):c.1127+17C>G
NM_002609.4(PDGFRB):c.1176C>T (p.Gly392=)
NM_002609.4(PDGFRB):c.1189C>T (p.Arg397Trp)
NM_002609.4(PDGFRB):c.1243+12G>A
NM_002609.4(PDGFRB):c.1244-4G>A rs1580805805
NM_002609.4(PDGFRB):c.1244-5T>C
NM_002609.4(PDGFRB):c.1253G>A (p.Arg418Gln)
NM_002609.4(PDGFRB):c.1302C>G (p.Val434=)
NM_002609.4(PDGFRB):c.1332G>A (p.Pro444=)
NM_002609.4(PDGFRB):c.1332G>C (p.Pro444=)
NM_002609.4(PDGFRB):c.1360C>T (p.Leu454Phe)
NM_002609.4(PDGFRB):c.1367+20A>G
NM_002609.4(PDGFRB):c.1399G>A (p.Gly467Arg)
NM_002609.4(PDGFRB):c.1442C>T (p.Thr481Met)
NM_002609.4(PDGFRB):c.1487G>A (p.Arg496His)
NM_002609.4(PDGFRB):c.1494G>A (p.Gln498=)
NM_002609.4(PDGFRB):c.1497C>T (p.His499=)
NM_002609.4(PDGFRB):c.1527G>A (p.Thr509=)
NM_002609.4(PDGFRB):c.1527G>T (p.Thr509=) rs750725462
NM_002609.4(PDGFRB):c.1535A>G (p.Asn512Ser)
NM_002609.4(PDGFRB):c.1554G>A (p.Thr518=)
NM_002609.4(PDGFRB):c.1554G>T (p.Thr518=) rs371192118
NM_002609.4(PDGFRB):c.1563C>T (p.Val521=) rs1580804718
NM_002609.4(PDGFRB):c.1566C>T (p.Ile522=)
NM_002609.4(PDGFRB):c.1567G>A (p.Val523Met)
NM_002609.4(PDGFRB):c.1580-8G>A
NM_002609.4(PDGFRB):c.1629G>A (p.Val543=)
NM_002609.4(PDGFRB):c.1663C>G (p.Leu555Val)
NM_002609.4(PDGFRB):c.1674+9C>G rs1231443369
NM_002609.4(PDGFRB):c.1675-14G>T
NM_002609.4(PDGFRB):c.1675-17T>G
NM_002609.4(PDGFRB):c.1675-4C>T
NM_002609.4(PDGFRB):c.1734G>A (p.Glu578=) rs2113897064
NM_002609.4(PDGFRB):c.1776G>A (p.Thr592=) rs367951719
NM_002609.4(PDGFRB):c.1776G>T (p.Thr592=)
NM_002609.4(PDGFRB):c.177G>A (p.Pro59=)
NM_002609.4(PDGFRB):c.1788G>A (p.Pro596=)
NM_002609.4(PDGFRB):c.1788G>T (p.Pro596=)
NM_002609.4(PDGFRB):c.1842G>A (p.Val614=)
NM_002609.4(PDGFRB):c.1883C>T (p.Thr628Met)
NM_002609.4(PDGFRB):c.1913-10T>A
NM_002609.4(PDGFRB):c.1958A>G (p.Lys653Arg)
NM_002609.4(PDGFRB):c.2023+16C>T
NM_002609.4(PDGFRB):c.2070G>A (p.Val690=)
NM_002609.4(PDGFRB):c.2084G>A (p.Arg695His)
NM_002609.4(PDGFRB):c.2115C>T (p.Ser705=)
NM_002609.4(PDGFRB):c.2122C>T (p.Arg708Cys)
NM_002609.4(PDGFRB):c.2163C>T (p.Pro721=)
NM_002609.4(PDGFRB):c.2164G>A (p.Val722Ile)
NM_002609.4(PDGFRB):c.2169G>T (p.Gly723=) rs961398213
NM_002609.4(PDGFRB):c.2183+18A>G
NM_002609.4(PDGFRB):c.2183+19G>A
NM_002609.4(PDGFRB):c.2184-7C>T
NM_002609.4(PDGFRB):c.2200G>A (p.Gly734Arg)
NM_002609.4(PDGFRB):c.2208C>T (p.Ser736=)
NM_002609.4(PDGFRB):c.225G>A (p.Lys75=)
NM_002609.4(PDGFRB):c.2298C>T (p.Ile766=)
NM_002609.4(PDGFRB):c.2345-18C>T
NM_002609.4(PDGFRB):c.2394A>C (p.Leu798=)
NM_002609.4(PDGFRB):c.2499C>A (p.Leu833=)
NM_002609.4(PDGFRB):c.2557C>A (p.Arg853=)
NM_002609.4(PDGFRB):c.2559G>A (p.Arg853=)
NM_002609.4(PDGFRB):c.2586+13C>T
NM_002609.4(PDGFRB):c.2586+20C>A
NM_002609.4(PDGFRB):c.2586+20C>G
NM_002609.4(PDGFRB):c.259C>T (p.Leu87=)
NM_002609.4(PDGFRB):c.2635C>A (p.Leu879Ile)
NM_002609.4(PDGFRB):c.2667C>T (p.Phe889=)
NM_002609.4(PDGFRB):c.2756G>A (p.Arg919Gln)
NM_002609.4(PDGFRB):c.2791G>A (p.Asp931Asn)
NM_002609.4(PDGFRB):c.2798+10G>A
NM_002609.4(PDGFRB):c.285G>A (p.Thr95=)
NM_002609.4(PDGFRB):c.2872C>G (p.Leu958Val) rs1321037719
NM_002609.4(PDGFRB):c.2874C>T (p.Leu958=) rs773161073
NM_002609.4(PDGFRB):c.2905-19C>G
NM_002609.4(PDGFRB):c.2905-8G>C
NM_002609.4(PDGFRB):c.2970C>T (p.Ala990=)
NM_002609.4(PDGFRB):c.2976G>A (p.Leu992=)
NM_002609.4(PDGFRB):c.3026A>G (p.Tyr1009Cys)
NM_002609.4(PDGFRB):c.3057C>T (p.Asn1019=)
NM_002609.4(PDGFRB):c.3058G>A (p.Asp1020Asn)
NM_002609.4(PDGFRB):c.3069C>T (p.Ile1023=) rs2113883671
NM_002609.4(PDGFRB):c.3126C>A (p.Pro1042=)
NM_002609.4(PDGFRB):c.3137+13G>T rs2113883431
NM_002609.4(PDGFRB):c.3137+15C>T
NM_002609.4(PDGFRB):c.3138-11C>G
NM_002609.4(PDGFRB):c.3145C>T (p.Leu1049=)
NM_002609.4(PDGFRB):c.3165C>T (p.Ser1055=)
NM_002609.4(PDGFRB):c.3181G>A (p.Asp1061Asn)
NM_002609.4(PDGFRB):c.3187C>A (p.Pro1063Thr)
NM_002609.4(PDGFRB):c.3205G>A (p.Glu1069Lys)
NM_002609.4(PDGFRB):c.3279G>T (p.Gly1093=)
NM_002609.4(PDGFRB):c.3296C>T (p.Ala1099Val)
NM_002609.4(PDGFRB):c.338G>A (p.Arg113Gln)
NM_002609.4(PDGFRB):c.351C>T (p.Tyr117=)
NM_002609.4(PDGFRB):c.360G>T (p.Val120=)
NM_002609.4(PDGFRB):c.364+15C>G
NM_002609.4(PDGFRB):c.365-13C>T
NM_002609.4(PDGFRB):c.365-5G>C
NM_002609.4(PDGFRB):c.370A>G (p.Thr124Ala)
NM_002609.4(PDGFRB):c.390T>C (p.Asn130=)
NM_002609.4(PDGFRB):c.396C>T (p.Ala132=) rs751600349
NM_002609.4(PDGFRB):c.40+16A>G
NM_002609.4(PDGFRB):c.40+19_40+23del
NM_002609.4(PDGFRB):c.462A>G (p.Pro154=)
NM_002609.4(PDGFRB):c.468G>A (p.Leu156=)
NM_002609.4(PDGFRB):c.483C>T (p.His161=)
NM_002609.4(PDGFRB):c.48G>A (p.Leu16=)
NM_002609.4(PDGFRB):c.4C>T (p.Arg2Trp)
NM_002609.4(PDGFRB):c.529C>T (p.Arg177Cys)
NM_002609.4(PDGFRB):c.542G>C (p.Gly181Ala)
NM_002609.4(PDGFRB):c.575C>G (p.Thr192Ser)
NM_002609.4(PDGFRB):c.624A>C (p.Arg208Ser)
NM_002609.4(PDGFRB):c.646G>C (p.Val216Leu)
NM_002609.4(PDGFRB):c.735C>T (p.Phe245=) rs765554311
NM_002609.4(PDGFRB):c.760-10G>T
NM_002609.4(PDGFRB):c.779C>T (p.Pro260Leu)
NM_002609.4(PDGFRB):c.817C>T (p.Arg273Cys)
NM_002609.4(PDGFRB):c.882G>T (p.Thr294=)
NM_002609.4(PDGFRB):c.921C>T (p.Asn307=)
NM_002609.4(PDGFRB):c.935-15G>A
NM_002609.4(PDGFRB):c.935-5T>C
NM_002609.4(PDGFRB):c.935-9C>T
NM_002609.4(PDGFRB):c.949C>T (p.Arg317Trp)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.