ClinVar Miner

List of variants reported as likely benign for Desbuquois dysplasia 1 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 201
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022166.4(XYLT1):c.1154C>T (p.Pro385Leu) rs36098987 0.00293
NM_022166.4(XYLT1):c.421C>T (p.Arg141Trp) rs74993523 0.00273
NM_022166.4(XYLT1):c.307G>A (p.Gly103Arg) rs370511358 0.00139
NM_022166.4(XYLT1):c.1588-3C>T rs201818754 0.00132
NM_022166.4(XYLT1):c.154G>A (p.Gly52Ser) rs766521030 0.00093
NM_022166.4(XYLT1):c.1704C>T (p.Ile568=) rs139802880 0.00092
NM_022166.4(XYLT1):c.402+6T>C rs184623992 0.00092
NM_022166.4(XYLT1):c.57C>T (p.Leu19=) rs539729561 0.00083
NM_022166.4(XYLT1):c.1765-3C>T rs192023037 0.00073
NM_022166.4(XYLT1):c.1841A>G (p.Tyr614Cys) rs137935662 0.00068
NM_022166.4(XYLT1):c.2007G>A (p.Thr669=) rs150492983 0.00067
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.2557+16G>T rs201594594 0.00029
NM_022166.4(XYLT1):c.2694G>A (p.Thr898=) rs141353269 0.00026
NM_022166.4(XYLT1):c.1227G>A (p.Leu409=) rs142693909 0.00019
NM_022166.4(XYLT1):c.1087-18T>C rs377281740 0.00016
NM_022166.4(XYLT1):c.1413C>T (p.Cys471=) rs372067770 0.00016
NM_022166.4(XYLT1):c.246A>C (p.Gly82=) rs1324469444 0.00016
NM_022166.4(XYLT1):c.546G>A (p.Ala182=) rs144423897 0.00015
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.2561A>C (p.Glu854Ala) rs199588257 0.00010
NM_022166.4(XYLT1):c.364-6C>T rs374328092 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.1686G>A (p.Lys562=) rs143303539 0.00008
NM_022166.4(XYLT1):c.126C>T (p.Ala42=) rs1359623297 0.00007
NM_022166.4(XYLT1):c.1602G>A (p.Thr534=) rs138560456 0.00007
NM_022166.4(XYLT1):c.2430C>T (p.Pro810=) rs550125219 0.00007
NM_022166.4(XYLT1):c.2784G>A (p.Pro928=) rs150334363 0.00007
NM_022166.4(XYLT1):c.541T>C (p.Leu181=) rs148434592 0.00007
NM_022166.4(XYLT1):c.1032C>T (p.Arg344=) rs753990263 0.00006
NM_022166.4(XYLT1):c.1629C>T (p.Asp543=) rs772951019 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.1716C>T (p.Cys572=) rs765001631 0.00005
NM_022166.4(XYLT1):c.1953G>A (p.Leu651=) rs759912114 0.00004
NM_022166.4(XYLT1):c.711T>A (p.Pro237=) rs148118242 0.00004
NM_022166.4(XYLT1):c.735C>T (p.Ser245=) rs143634894 0.00004
NM_022166.4(XYLT1):c.930C>T (p.Asn310=) rs372400180 0.00004
NM_022166.4(XYLT1):c.1533C>T (p.Asp511=) rs760198193 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.558G>A (p.Pro186=) rs538937903 0.00003
NM_022166.4(XYLT1):c.1140T>C (p.Asn380=) rs1041058225 0.00002
NM_022166.4(XYLT1):c.1590C>T (p.Ser530=) rs754108822 0.00002
NM_022166.4(XYLT1):c.1764+11C>G rs188563835 0.00002
NM_022166.4(XYLT1):c.2223+10C>T rs750355184 0.00002
NM_022166.4(XYLT1):c.708G>A (p.Pro236=) rs570061438 0.00002
NM_022166.4(XYLT1):c.93C>T (p.Val31=) rs1347219754 0.00002
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.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.1638G>A (p.Val546=) rs2030849015 0.00001
NM_022166.4(XYLT1):c.1764+19C>T rs915382546 0.00001
NM_022166.4(XYLT1):c.1875G>A (p.Pro625=) rs182016158 0.00001
NM_022166.4(XYLT1):c.1995G>A (p.Thr665=) rs779046536 0.00001
NM_022166.4(XYLT1):c.213C>T (p.Pro71=) rs999574381 0.00001
NM_022166.4(XYLT1):c.2224-7G>C rs2029906214 0.00001
NM_022166.4(XYLT1):c.2337C>A (p.Thr779=) rs779548774 0.00001
NM_022166.4(XYLT1):c.2766G>C (p.Thr922=) rs371058087 0.00001
NM_022166.4(XYLT1):c.2865T>C (p.Asp955=) rs1444261356 0.00001
NM_022166.4(XYLT1):c.402+15T>C rs937484990 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.807C>T (p.Ser269=) rs779671035 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_022166.4(XYLT1):c.1008C>T (p.Gly336=)
NM_022166.4(XYLT1):c.1011T>A (p.Arg337=)
NM_022166.4(XYLT1):c.1074C>A (p.Ile358=)
NM_022166.4(XYLT1):c.1086+9C>G
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=)
NM_022166.4(XYLT1):c.1221C>T (p.Asp407=)
NM_022166.4(XYLT1):c.1224C>T (p.Leu408=)
NM_022166.4(XYLT1):c.1236C>T (p.Thr412=)
NM_022166.4(XYLT1):c.1272G>T (p.Ala424=)
NM_022166.4(XYLT1):c.1275C>T (p.Ala425=)
NM_022166.4(XYLT1):c.1284C>A (p.Pro428=)
NM_022166.4(XYLT1):c.1371-15C>G
NM_022166.4(XYLT1):c.1371-8C>T
NM_022166.4(XYLT1):c.1416C>T (p.Asp472=) rs371420301
NM_022166.4(XYLT1):c.1464C>T (p.Ala488=)
NM_022166.4(XYLT1):c.1518G>A (p.Val506=) rs1256776514
NM_022166.4(XYLT1):c.1530A>G (p.Thr510=)
NM_022166.4(XYLT1):c.1587+8T>A
NM_022166.4(XYLT1):c.1588-15C>G
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.1588-9C>T
NM_022166.4(XYLT1):c.15G>T (p.Pro5=)
NM_022166.4(XYLT1):c.1606C>T (p.Leu536=)
NM_022166.4(XYLT1):c.1617C>T (p.Ser539=)
NM_022166.4(XYLT1):c.1659C>T (p.Thr553=)
NM_022166.4(XYLT1):c.1677G>A (p.Leu559=)
NM_022166.4(XYLT1):c.1734C>T (p.Asp578=)
NM_022166.4(XYLT1):c.1764+13C>T
NM_022166.4(XYLT1):c.1764+9_1764+10dup
NM_022166.4(XYLT1):c.1765-14T>A
NM_022166.4(XYLT1):c.1765-15A>C
NM_022166.4(XYLT1):c.1765-4A>G
NM_022166.4(XYLT1):c.1806C>T (p.Ala602=)
NM_022166.4(XYLT1):c.183G>A (p.Pro61=)
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.195G>C (p.Arg65=)
NM_022166.4(XYLT1):c.2027+14G>A
NM_022166.4(XYLT1):c.2027+20C>T
NM_022166.4(XYLT1):c.2028-16dup
NM_022166.4(XYLT1):c.207C>T (p.Asp69=)
NM_022166.4(XYLT1):c.2127G>C (p.Val709=) rs1597137187
NM_022166.4(XYLT1):c.2145G>A (p.Leu715=)
NM_022166.4(XYLT1):c.2181C>T (p.Ile727=)
NM_022166.4(XYLT1):c.2220C>T (p.Ser740=)
NM_022166.4(XYLT1):c.2223+11A>G
NM_022166.4(XYLT1):c.2223+12G>C
NM_022166.4(XYLT1):c.2223+17T>A
NM_022166.4(XYLT1):c.2224-4T>A rs749488472
NM_022166.4(XYLT1):c.2224-4T>C
NM_022166.4(XYLT1):c.228A>G (p.Ala76=) rs904119368
NM_022166.4(XYLT1):c.228A>T (p.Ala76=)
NM_022166.4(XYLT1):c.2319G>A (p.Gly773=)
NM_022166.4(XYLT1):c.2322G>A (p.Lys774=)
NM_022166.4(XYLT1):c.2337C>T (p.Thr779=)
NM_022166.4(XYLT1):c.234AGG[6] (p.Gly90dup) rs559215248
NM_022166.4(XYLT1):c.2385C>T (p.Tyr795=)
NM_022166.4(XYLT1):c.2409C>T (p.Ala803=)
NM_022166.4(XYLT1):c.2418A>G (p.Thr806=)
NM_022166.4(XYLT1):c.2421C>T (p.His807=)
NM_022166.4(XYLT1):c.2424C>T (p.Tyr808=)
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=)
NM_022166.4(XYLT1):c.2535G>C (p.Ser845=) rs746392043
NM_022166.4(XYLT1):c.2557+20A>G
NM_022166.4(XYLT1):c.2557+8C>A
NM_022166.4(XYLT1):c.2558-18G>A rs564847916
NM_022166.4(XYLT1):c.2558-6T>C
NM_022166.4(XYLT1):c.255C>A (p.Gly85=) rs1414998054
NM_022166.4(XYLT1):c.2566C>T (p.Leu856=)
NM_022166.4(XYLT1):c.2607G>A (p.Glu869=)
NM_022166.4(XYLT1):c.2640C>T (p.Ser880=)
NM_022166.4(XYLT1):c.2673A>G (p.Ala891=)
NM_022166.4(XYLT1):c.2682C>T (p.Asn894=)
NM_022166.4(XYLT1):c.2703G>A (p.Ala901=)
NM_022166.4(XYLT1):c.2733C>A (p.Gly911=)
NM_022166.4(XYLT1):c.2766G>A (p.Thr922=) rs371058087
NM_022166.4(XYLT1):c.2778C>T (p.Ala926=)
NM_022166.4(XYLT1):c.2808G>A (p.Thr936=)
NM_022166.4(XYLT1):c.282G>A (p.Gln94=)
NM_022166.4(XYLT1):c.2856C>T (p.Val952=)
NM_022166.4(XYLT1):c.28C>T (p.Leu10=)
NM_022166.4(XYLT1):c.306C>T (p.Pro102=) rs763158776
NM_022166.4(XYLT1):c.351C>T (p.Pro117=)
NM_022166.4(XYLT1):c.357G>A (p.Arg119=) rs777120741
NM_022166.4(XYLT1):c.364-9A>G
NM_022166.4(XYLT1):c.402+18C>G rs111904908
NM_022166.4(XYLT1):c.403-18C>T
NM_022166.4(XYLT1):c.403-9C>G
NM_022166.4(XYLT1):c.456C>T (p.Asn152=)
NM_022166.4(XYLT1):c.504C>T (p.Phe168=)
NM_022166.4(XYLT1):c.537T>C (p.Pro179=)
NM_022166.4(XYLT1):c.570G>A (p.Lys190=)
NM_022166.4(XYLT1):c.60G>C (p.Ala20=)
NM_022166.4(XYLT1):c.615A>G (p.Gly205=) rs762851973
NM_022166.4(XYLT1):c.649C>T (p.Leu217=)
NM_022166.4(XYLT1):c.693G>A (p.Lys231=)
NM_022166.4(XYLT1):c.69G>A (p.Thr23=)
NM_022166.4(XYLT1):c.822G>A (p.Lys274=)
NM_022166.4(XYLT1):c.888G>A (p.Lys296=)
NM_022166.4(XYLT1):c.906C>T (p.Pro302=)
NM_022166.4(XYLT1):c.913+15C>G
NM_022166.4(XYLT1):c.913+15C>T
NM_022166.4(XYLT1):c.913+16G>C rs540575525
NM_022166.4(XYLT1):c.914-12G>T
NM_022166.4(XYLT1):c.914-16C>G
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.975G>A (p.Pro325=)
NM_022166.4(XYLT1):c.981A>G (p.Arg327=)
NM_022166.4(XYLT1):c.987C>T (p.Ala329=) rs2032521829
NM_022166.4(XYLT1):c.9G>A (p.Ala3=)

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.