ClinVar Miner

List of variants reported as likely benign for acroosteolysis-keloid-like lesions-premature aging syndrome by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr) rs2229560 0.00130
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_002609.4(PDGFRB):c.1818C>T (p.Leu606=) rs199649903 0.00013
NM_002609.4(PDGFRB):c.3204C>T (p.Asp1068=) rs141511317 0.00013
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_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_002609.4(PDGFRB):c.968G>A (p.Gly323Asp) rs374208706 0.00005
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_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_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_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)

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