ClinVar Miner

List of variants reported as likely benign for Desbuquois dysplasia 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 213
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HGVS dbSNP gnomAD frequency
NM_001159773.2(CANT1):c.967G>A (p.Ala323Thr) rs9903215 0.01090
NM_001159773.2(CANT1):c.*1376C>G rs139673784 0.00478
NM_001159773.2(CANT1):c.*696T>G rs149991908 0.00478
NM_001159773.2(CANT1):c.-96C>T rs143084065 0.00384
NM_022166.4(XYLT1):c.1154C>T (p.Pro385Leu) rs36098987 0.00293
NM_001159773.2(CANT1):c.1123A>T (p.Met375Leu) rs139486406 0.00272
NM_001159773.2(CANT1):c.1172G>A (p.Gly391Glu) rs34082669 0.00260
NM_022166.4(XYLT1):c.421C>T (p.Arg141Trp) rs74993523 0.00252
NM_001159773.2(CANT1):c.194C>T (p.Ala65Val) rs200811852 0.00242
NM_001159773.2(CANT1):c.198C>T (p.Pro66=) rs201935694 0.00185
NM_001159773.2(CANT1):c.*1794T>G rs192546263 0.00143
NM_022166.4(XYLT1):c.307G>A (p.Gly103Arg) rs370511358 0.00139
NM_022166.4(XYLT1):c.1588-3C>T rs201818754 0.00132
NM_001159773.2(CANT1):c.*157G>A rs117904862 0.00109
NM_022166.4(XYLT1):c.154G>A (p.Gly52Ser) rs766521030 0.00092
NM_022166.4(XYLT1):c.402+6T>C rs184623992 0.00092
NM_022166.4(XYLT1):c.1704C>T (p.Ile568=) rs139802880 0.00091
NM_022166.4(XYLT1):c.57C>T (p.Leu19=) rs539729561 0.00083
NM_022166.4(XYLT1):c.2007G>A (p.Thr669=) rs150492983 0.00067
NM_022166.4(XYLT1):c.1765-3C>T rs192023037 0.00065
NM_022166.4(XYLT1):c.1841A>G (p.Tyr614Cys) rs137935662 0.00062
NM_022166.4(XYLT1):c.1742C>T (p.Pro581Leu) rs146414934 0.00061
NM_022166.4(XYLT1):c.1299C>A (p.Asp433Glu) rs147074504 0.00057
NM_022166.4(XYLT1):c.1905C>T (p.Tyr635=) rs139156211 0.00043
NM_022166.4(XYLT1):c.1588-15C>G rs373631554 0.00030
NM_022166.4(XYLT1):c.2557+16G>T rs201594594 0.00029
NM_022166.4(XYLT1):c.2694G>A (p.Thr898=) rs141353269 0.00025
NM_001159773.2(CANT1):c.1152G>C (p.Leu384=) rs145794847 0.00020
NM_022166.4(XYLT1):c.1227G>A (p.Leu409=) rs142693909 0.00019
NM_022166.4(XYLT1):c.822G>A (p.Lys274=) rs146915496 0.00017
NM_022166.4(XYLT1):c.1087-18T>C rs377281740 0.00016
NM_022166.4(XYLT1):c.246A>C (p.Gly82=) rs1324469444 0.00016
NM_022166.4(XYLT1):c.1413C>T (p.Cys471=) rs372067770 0.00015
NM_022166.4(XYLT1):c.546G>A (p.Ala182=) rs144423897 0.00015
NM_022166.4(XYLT1):c.1275C>T (p.Ala425=) rs149300797 0.00013
NM_022166.4(XYLT1):c.2081G>A (p.Arg694His) rs201045664 0.00013
NM_022166.4(XYLT1):c.1311G>A (p.Ala437=) rs201354548 0.00012
NM_022166.4(XYLT1):c.1917C>T (p.Asp639=) rs769324855 0.00012
NM_022166.4(XYLT1):c.1602G>A (p.Thr534=) rs138560456 0.00011
NM_022166.4(XYLT1):c.2319G>A (p.Gly773=) rs142486601 0.00011
NM_022166.4(XYLT1):c.2385C>T (p.Tyr795=) rs139558627 0.00011
NM_022166.4(XYLT1):c.2561A>C (p.Glu854Ala) rs199588257 0.00010
NM_022166.4(XYLT1):c.364-6C>T rs374328092 0.00010
NM_022166.4(XYLT1):c.913+15C>T rs201050552 0.00010
NM_022166.4(XYLT1):c.2224-9_2224-8del rs765782913 0.00009
NM_022166.4(XYLT1):c.258A>C (p.Gly86=) rs1354379384 0.00009
NM_022166.4(XYLT1):c.126C>T (p.Ala42=) rs1359623297 0.00008
NM_022166.4(XYLT1):c.1686G>A (p.Lys562=) rs143303539 0.00008
NM_022166.4(XYLT1):c.1032C>T (p.Arg344=) rs753990263 0.00007
NM_022166.4(XYLT1):c.2703G>A (p.Ala901=) rs769733883 0.00007
NM_022166.4(XYLT1):c.2784G>A (p.Pro928=) rs150334363 0.00007
NM_022166.4(XYLT1):c.2808G>A (p.Thr936=) rs201780306 0.00007
NM_022166.4(XYLT1):c.541T>C (p.Leu181=) rs148434592 0.00007
NM_022166.4(XYLT1):c.1464C>T (p.Ala488=) rs143737358 0.00006
NM_022166.4(XYLT1):c.1629C>T (p.Asp543=) rs772951019 0.00006
NM_022166.4(XYLT1):c.2223+11A>G rs372657975 0.00006
NM_022166.4(XYLT1):c.2430C>T (p.Pro810=) rs550125219 0.00006
NM_022166.4(XYLT1):c.2442G>T (p.Leu814Phe) rs199727985 0.00006
NM_022166.4(XYLT1):c.2520G>A (p.Ala840=) rs374874388 0.00006
NM_022166.4(XYLT1):c.914-12G>T rs371977530 0.00006
NM_022166.4(XYLT1):c.1716C>T (p.Cys572=) rs765001631 0.00005
NM_022166.4(XYLT1):c.2220C>T (p.Ser740=) rs772140093 0.00005
NM_022166.4(XYLT1):c.1953G>A (p.Leu651=) rs759912114 0.00004
NM_022166.4(XYLT1):c.2223+10C>T rs750355184 0.00004
NM_022166.4(XYLT1):c.2682C>T (p.Asn894=) rs764602771 0.00004
NM_022166.4(XYLT1):c.735C>T (p.Ser245=) rs143634894 0.00004
NM_022166.4(XYLT1):c.1011T>A (p.Arg337=) rs747909036 0.00003
NM_022166.4(XYLT1):c.1659C>T (p.Thr553=) rs771027871 0.00003
NM_022166.4(XYLT1):c.1764+11C>G rs188563835 0.00003
NM_022166.4(XYLT1):c.1938C>T (p.Asp646=) rs377015583 0.00003
NM_022166.4(XYLT1):c.2004C>T (p.His668=) rs568660663 0.00003
NM_022166.4(XYLT1):c.2028-14G>A rs762165484 0.00003
NM_022166.4(XYLT1):c.2163G>A (p.Pro721=) rs759198989 0.00003
NM_022166.4(XYLT1):c.2298G>A (p.Pro766=) rs146457574 0.00003
NM_022166.4(XYLT1):c.264A>T (p.Gly88=) rs1056637053 0.00003
NM_022166.4(XYLT1):c.2865T>C (p.Asp955=) rs1444261356 0.00003
NM_022166.4(XYLT1):c.558G>A (p.Pro186=) rs538937903 0.00003
NM_022166.4(XYLT1):c.708G>A (p.Pro236=) rs570061438 0.00003
NM_022166.4(XYLT1):c.711T>A (p.Pro237=) rs148118242 0.00003
NM_022166.4(XYLT1):c.930C>T (p.Asn310=) rs372400180 0.00003
NM_022166.4(XYLT1):c.975G>A (p.Pro325=) rs761027921 0.00003
NM_022166.4(XYLT1):c.9G>A (p.Ala3=) rs2036980961 0.00003
NM_022166.4(XYLT1):c.1074C>A (p.Ile358=) rs538990630 0.00002
NM_022166.4(XYLT1):c.1086+9C>G rs201801185 0.00002
NM_022166.4(XYLT1):c.1140T>C (p.Asn380=) rs1041058225 0.00002
NM_022166.4(XYLT1):c.1533C>T (p.Asp511=) rs760198193 0.00002
NM_022166.4(XYLT1):c.1590C>T (p.Ser530=) rs754108822 0.00002
NM_022166.4(XYLT1):c.2028-16dup rs1305415028 0.00002
NM_022166.4(XYLT1):c.228A>G (p.Ala76=) rs904119368 0.00002
NM_022166.4(XYLT1):c.2409C>T (p.Ala803=) rs747507675 0.00002
NM_022166.4(XYLT1):c.2558-6T>C rs772914063 0.00002
NM_022166.4(XYLT1):c.807C>T (p.Ser269=) rs779671035 0.00002
NM_022166.4(XYLT1):c.93C>T (p.Val31=) rs1347219754 0.00002
NM_022166.4(XYLT1):c.1008C>T (p.Gly336=) rs368177745 0.00001
NM_022166.4(XYLT1):c.1191C>G (p.Leu397=) rs372491262 0.00001
NM_022166.4(XYLT1):c.1225C>T (p.Leu409=) rs1236568384 0.00001
NM_022166.4(XYLT1):c.1236C>T (p.Thr412=) rs761553262 0.00001
NM_022166.4(XYLT1):c.1290-6C>T rs1019625581 0.00001
NM_022166.4(XYLT1):c.1353C>T (p.His451=) rs200531572 0.00001
NM_022166.4(XYLT1):c.1371-5C>T rs779582063 0.00001
NM_022166.4(XYLT1):c.1479G>A (p.Ser493=) rs758599112 0.00001
NM_022166.4(XYLT1):c.153C>T (p.Val51=) rs1359545259 0.00001
NM_022166.4(XYLT1):c.1587+8T>A rs201668780 0.00001
NM_022166.4(XYLT1):c.1588-9C>T rs772084738 0.00001
NM_022166.4(XYLT1):c.15G>T (p.Pro5=) rs781496972 0.00001
NM_022166.4(XYLT1):c.1638G>A (p.Val546=) rs2030849015 0.00001
NM_022166.4(XYLT1):c.1764+13C>T rs753517047 0.00001
NM_022166.4(XYLT1):c.1764+19C>T rs915382546 0.00001
NM_022166.4(XYLT1):c.1806C>T (p.Ala602=) rs765295954 0.00001
NM_022166.4(XYLT1):c.183G>A (p.Pro61=) rs1338654688 0.00001
NM_022166.4(XYLT1):c.1875G>A (p.Pro625=) rs182016158 0.00001
NM_022166.4(XYLT1):c.195G>C (p.Arg65=) rs1425234113 0.00001
NM_022166.4(XYLT1):c.1995G>A (p.Thr665=) rs779046536 0.00001
NM_022166.4(XYLT1):c.2027+20C>T rs1376450108 0.00001
NM_022166.4(XYLT1):c.213C>T (p.Pro71=) rs999574381 0.00001
NM_022166.4(XYLT1):c.2145G>A (p.Leu715=) rs755578526 0.00001
NM_022166.4(XYLT1):c.2181C>T (p.Ile727=) rs112238716 0.00001
NM_022166.4(XYLT1):c.2224-7G>C rs2029906214 0.00001
NM_022166.4(XYLT1):c.2322G>A (p.Lys774=) rs568680100 0.00001
NM_022166.4(XYLT1):c.2337C>A (p.Thr779=) rs779548774 0.00001
NM_022166.4(XYLT1):c.2557+20A>G rs751544794 0.00001
NM_022166.4(XYLT1):c.2557+8C>A rs781175765 0.00001
NM_022166.4(XYLT1):c.255C>A (p.Gly85=) rs1414998054 0.00001
NM_022166.4(XYLT1):c.2640C>T (p.Ser880=) rs1206335148 0.00001
NM_022166.4(XYLT1):c.2766G>C (p.Thr922=) rs371058087 0.00001
NM_022166.4(XYLT1):c.282G>A (p.Gln94=) rs1329480145 0.00001
NM_022166.4(XYLT1):c.306C>T (p.Pro102=) rs763158776 0.00001
NM_022166.4(XYLT1):c.351C>T (p.Pro117=) rs1389427879 0.00001
NM_022166.4(XYLT1):c.357G>A (p.Arg119=) rs777120741 0.00001
NM_022166.4(XYLT1):c.364-9A>G rs768961154 0.00001
NM_022166.4(XYLT1):c.402+15T>C rs937484990 0.00001
NM_022166.4(XYLT1):c.403-18C>T rs767635029 0.00001
NM_022166.4(XYLT1):c.504C>T (p.Phe168=) rs1279570396 0.00001
NM_022166.4(XYLT1):c.537T>C (p.Pro179=) rs781173341 0.00001
NM_022166.4(XYLT1):c.649C>T (p.Leu217=) rs1217617705 0.00001
NM_022166.4(XYLT1):c.72G>C (p.Val24=) rs753722258 0.00001
NM_022166.4(XYLT1):c.750G>A (p.Lys250=) rs767664625 0.00001
NM_022166.4(XYLT1):c.914-18C>A rs149428198 0.00001
NM_022166.4(XYLT1):c.984C>T (p.Ile328=) rs776003531 0.00001
NM_001159773.2(CANT1):c.*998G>T rs78037898
NM_022166.4(XYLT1):c.1087-14_1087-11del rs1449577336
NM_022166.4(XYLT1):c.1146C>T (p.Arg382=)
NM_022166.4(XYLT1):c.114C>G (p.Leu38=) rs1367326593
NM_022166.4(XYLT1):c.1185C>T (p.Ala395=)
NM_022166.4(XYLT1):c.1218G>A (p.Arg406=) rs2506412618
NM_022166.4(XYLT1):c.1221C>T (p.Asp407=) rs2506412567
NM_022166.4(XYLT1):c.1224C>T (p.Leu408=) rs1458024400
NM_022166.4(XYLT1):c.1272G>T (p.Ala424=) rs144531370
NM_022166.4(XYLT1):c.1284C>A (p.Pro428=) rs28709752
NM_022166.4(XYLT1):c.1371-15C>G rs1045373781
NM_022166.4(XYLT1):c.1371-8C>T rs1266640736
NM_022166.4(XYLT1):c.1416C>T (p.Asp472=) rs371420301
NM_022166.4(XYLT1):c.1518G>A (p.Val506=) rs1256776514
NM_022166.4(XYLT1):c.1530A>G (p.Thr510=) rs2506186018
NM_022166.4(XYLT1):c.1588-35_1588-19del rs762567877
NM_022166.4(XYLT1):c.1588-6C>T
NM_022166.4(XYLT1):c.1588-9C>A rs772084738
NM_022166.4(XYLT1):c.1606C>T (p.Leu536=) rs2506178950
NM_022166.4(XYLT1):c.1617C>T (p.Ser539=)
NM_022166.4(XYLT1):c.1677G>A (p.Leu559=) rs772373605
NM_022166.4(XYLT1):c.1734C>T (p.Asp578=) rs376245484
NM_022166.4(XYLT1):c.1764+9_1764+10dup rs770726735
NM_022166.4(XYLT1):c.1765-14T>A rs2506171291
NM_022166.4(XYLT1):c.1765-15A>C rs772678231
NM_022166.4(XYLT1):c.1765-4A>G
NM_022166.4(XYLT1):c.1887C>T (p.Ser629=)
NM_022166.4(XYLT1):c.1911G>A (p.Glu637=)
NM_022166.4(XYLT1):c.1944A>G (p.Thr648=)
NM_022166.4(XYLT1):c.2027+14G>A
NM_022166.4(XYLT1):c.207C>T (p.Asp69=)
NM_022166.4(XYLT1):c.2127G>C (p.Val709=) rs1597137187
NM_022166.4(XYLT1):c.2223+12G>C rs2506162703
NM_022166.4(XYLT1):c.2223+17T>A rs756634531
NM_022166.4(XYLT1):c.2224-4T>A rs749488472
NM_022166.4(XYLT1):c.2224-4T>C rs749488472
NM_022166.4(XYLT1):c.228A>T (p.Ala76=) rs904119368
NM_022166.4(XYLT1):c.2337C>T (p.Thr779=) rs779548774
NM_022166.4(XYLT1):c.234AGG[6] (p.Gly90dup) rs559215248
NM_022166.4(XYLT1):c.2418A>G (p.Thr806=) rs1330336689
NM_022166.4(XYLT1):c.2421C>T (p.His807=) rs745406512
NM_022166.4(XYLT1):c.2424C>T (p.Tyr808=) rs2029891516
NM_022166.4(XYLT1):c.2457G>T (p.Gly819=) rs2141484223
NM_022166.4(XYLT1):c.2466A>G (p.Thr822=) rs2141484206
NM_022166.4(XYLT1):c.2481C>T (p.His827=) rs758501855
NM_022166.4(XYLT1):c.2535G>C (p.Ser845=) rs746392043
NM_022166.4(XYLT1):c.2558-18G>A rs564847916
NM_022166.4(XYLT1):c.2566C>T (p.Leu856=) rs780784292
NM_022166.4(XYLT1):c.2607G>A (p.Glu869=) rs1340268430
NM_022166.4(XYLT1):c.2673A>G (p.Ala891=)
NM_022166.4(XYLT1):c.2733C>A (p.Gly911=) rs377724066
NM_022166.4(XYLT1):c.2766G>A (p.Thr922=) rs371058087
NM_022166.4(XYLT1):c.2778C>T (p.Ala926=)
NM_022166.4(XYLT1):c.2856C>T (p.Val952=) rs921256221
NM_022166.4(XYLT1):c.28C>T (p.Leu10=) rs2507323626
NM_022166.4(XYLT1):c.402+18C>G rs111904908
NM_022166.4(XYLT1):c.403-9C>G
NM_022166.4(XYLT1):c.456C>T (p.Asn152=)
NM_022166.4(XYLT1):c.570G>A (p.Lys190=) rs2506675653
NM_022166.4(XYLT1):c.60G>C (p.Ala20=) rs1343034925
NM_022166.4(XYLT1):c.615A>G (p.Gly205=) rs762851973
NM_022166.4(XYLT1):c.693G>A (p.Lys231=) rs1205898146
NM_022166.4(XYLT1):c.69G>A (p.Thr23=) rs756943847
NM_022166.4(XYLT1):c.888G>A (p.Lys296=) rs2506671804
NM_022166.4(XYLT1):c.906C>T (p.Pro302=) rs1259746332
NM_022166.4(XYLT1):c.913+15C>G
NM_022166.4(XYLT1):c.913+16G>C rs540575525
NM_022166.4(XYLT1):c.914-16C>G rs763174976
NM_022166.4(XYLT1):c.914-8T>A rs2141589675
NM_022166.4(XYLT1):c.914-9T>A rs1244804362
NM_022166.4(XYLT1):c.927G>A (p.Lys309=) rs1368460695
NM_022166.4(XYLT1):c.942C>T (p.Asp314=)
NM_022166.4(XYLT1):c.981A>G (p.Arg327=) rs2506425682
NM_022166.4(XYLT1):c.987C>T (p.Ala329=) rs2032521829

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