ClinVar Miner

List of variants in gene DBH reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 129
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000787.4(DBH):c.486A>G (p.Glu162=) rs1108580 0.54709
NM_000787.4(DBH):c.1410A>G (p.Thr470=) rs77905 0.54407
NM_000787.4(DBH):c.1563-5A>G rs1611131 0.25682
NM_000787.4(DBH):c.*100C>T rs129882 0.19673
NM_000787.4(DBH):c.1335+13A>G rs7862391 0.08948
NM_000787.4(DBH):c.631G>A (p.Ala211Thr) rs5320 0.08535
NM_000787.4(DBH):c.1024+9C>T rs1611127 0.08112
NM_000787.4(DBH):c.*390G>A rs13306304 0.06633
NM_000787.4(DBH):c.952G>T (p.Ala318Ser) rs4531 0.06315
NM_000787.4(DBH):c.1645C>T (p.Arg549Cys) rs6271 0.04899
NM_000787.4(DBH):c.486+13C>T rs1611119 0.04537
NM_000787.4(DBH):c.*278T>C rs129914 0.03550
NM_000787.4(DBH):c.868G>A (p.Asp290Asn) rs5324 0.02156
NM_000787.4(DBH):c.735C>T (p.His245=) rs5322 0.02106
NM_000787.4(DBH):c.1734C>T (p.Asn578=) rs45446891 0.01268
NM_000787.4(DBH):c.602A>G (p.Asn201Ser) rs45465204 0.01221
NM_000787.4(DBH):c.235C>T (p.Arg79Trp) rs77273740 0.01166
NM_000787.4(DBH):c.744+8C>T rs45549938 0.01161
NM_000787.4(DBH):c.533G>A (p.Arg178Gln) rs76819676 0.00638
NM_000787.4(DBH):c.*393C>T rs565769234 0.00634
NM_000787.4(DBH):c.*837T>G rs148975018 0.00564
NM_000787.4(DBH):c.*58G>A rs45455601 0.00545
NM_000787.4(DBH):c.*840C>T rs143836755 0.00487
NM_000787.4(DBH):c.1722+4C>T rs45532436 0.00461
NM_000787.4(DBH):c.747C>T (p.Tyr249=) rs35465867 0.00428
NM_000787.4(DBH):c.263G>C (p.Gly88Ala) rs3025380 0.00352
NM_000787.4(DBH):c.76G>A (p.Val26Met) rs76856960 0.00348
NM_000787.4(DBH):c.*89A>G rs45602440 0.00344
NM_000787.4(DBH):c.1819C>T (p.Pro607Ser) rs148806316 0.00302
NM_000787.4(DBH):c.*415C>T rs533447101 0.00285
NM_000787.4(DBH):c.1085C>T (p.Ala362Val) rs75215331 0.00236
NM_000787.4(DBH):c.1444G>A (p.Gly482Arg) rs41316996 0.00180
NM_000787.4(DBH):c.*394C>T rs533126251 0.00144
NM_000787.4(DBH):c.1735C>T (p.Leu579=) rs61733931 0.00113
NM_000787.4(DBH):c.339+2T>C rs74853476 0.00106
NM_000787.4(DBH):c.1772A>T (p.Glu591Val) rs75512464 0.00096
NM_000787.4(DBH):c.490G>A (p.Gly164Ser) rs142383279 0.00077
NM_000787.4(DBH):c.*319C>T rs866646852 0.00069
NM_000787.4(DBH):c.1215C>T (p.His405=) rs144219953 0.00068
NM_000787.4(DBH):c.165G>A (p.Pro55=) rs139591190 0.00057
NM_000787.4(DBH):c.1788C>T (p.Cys596=) rs61729385 0.00051
NM_000787.4(DBH):c.632C>T (p.Ala211Val) rs143535251 0.00051
NM_000787.4(DBH):c.807C>T (p.Cys269=) rs141816448 0.00050
NM_000787.4(DBH):c.1516G>A (p.Ala506Thr) rs148439785 0.00048
NM_000787.4(DBH):c.892G>A (p.Val298Met) rs145655199 0.00044
NM_000787.4(DBH):c.583G>A (p.Val195Met) rs145059403 0.00040
NM_000787.4(DBH):c.849C>T (p.Cys283=) rs78200745 0.00040
NM_000787.4(DBH):c.253G>A (p.Val85Ile) rs78445536 0.00038
NM_000787.4(DBH):c.1025-6T>A rs199926239 0.00034
NM_000787.4(DBH):c.1643A>G (p.Asn548Ser) rs151228388 0.00029
NM_000787.4(DBH):c.1028G>A (p.Arg343Gln) rs369664655 0.00028
NM_000787.4(DBH):c.*320G>A rs561965972 0.00027
NM_000787.4(DBH):c.105C>T (p.Ala35=) rs140025171 0.00026
NM_000787.4(DBH):c.291C>T (p.Asn97=) rs75734048 0.00022
NM_000787.4(DBH):c.717G>C (p.Lys239Asn) rs5321 0.00021
NM_000787.4(DBH):c.*431C>T rs551208345 0.00020
NM_000787.4(DBH):c.850G>A (p.Asp284Asn) rs13306301 0.00020
NM_000787.4(DBH):c.1688T>C (p.Met563Thr) rs201973877 0.00019
NM_000787.4(DBH):c.1840G>A (p.Gly614Arg) rs76316834 0.00017
NM_000787.4(DBH):c.354C>T (p.Asp118=) rs199898782 0.00017
NM_000787.4(DBH):c.*845G>A rs769087490 0.00016
NM_000787.4(DBH):c.1139G>A (p.Arg380Gln) rs77984399 0.00016
NM_000787.4(DBH):c.1198C>T (p.Pro400Ser) rs200798319 0.00012
NM_000787.4(DBH):c.*318C>A rs140355168 0.00011
NM_000787.4(DBH):c.*52G>A rs531831034 0.00011
NM_000787.4(DBH):c.1493C>T (p.Thr498Met) rs78512658 0.00011
NM_000787.4(DBH):c.*401C>T rs886063665 0.00010
NM_000787.4(DBH):c.1094T>C (p.Met365Thr) rs200103371 0.00010
NM_000787.4(DBH):c.1451T>C (p.Leu484Pro) rs769107895 0.00010
NM_000787.4(DBH):c.*414C>G rs960670938 0.00008
NM_000787.4(DBH):c.1572C>T (p.Asn524=) rs200509113 0.00008
NM_000787.4(DBH):c.1599G>A (p.Ala533=) rs377563744 0.00008
NM_000787.4(DBH):c.624C>T (p.Pro208=) rs75942058 0.00008
NM_000787.4(DBH):c.1173G>A (p.Thr391=) rs201689325 0.00007
NM_000787.4(DBH):c.*283A>C rs886063661 0.00006
NM_000787.4(DBH):c.*73C>T rs1012869106 0.00006
NM_000787.4(DBH):c.1001A>T (p.Tyr334Phe) rs200678652 0.00006
NM_000787.4(DBH):c.1835T>C (p.Ile612Thr) rs372197370 0.00006
NM_000787.4(DBH):c.1722+13G>T rs200197329 0.00005
NM_000787.4(DBH):c.1148C>T (p.Ala383Val) rs756212220 0.00004
NM_000787.4(DBH):c.1286G>A (p.Arg429Gln) rs773007874 0.00004
NM_000787.4(DBH):c.1365G>A (p.Ser455=) rs369001369 0.00004
NM_000787.4(DBH):c.*213A>C rs578112069 0.00003
NM_000787.4(DBH):c.*222C>T rs561913284 0.00003
NM_000787.4(DBH):c.*425C>T rs895219061 0.00003
NM_000787.4(DBH):c.486+15C>T rs749887039 0.00003
NM_000787.4(DBH):c.776C>T (p.Ala259Val) rs201600007 0.00003
NM_000787.4(DBH):c.983T>G (p.Leu328Arg) rs764045527 0.00003
NM_000787.4(DBH):c.*649C>T rs777802512 0.00002
NM_000787.4(DBH):c.*698C>T rs896192061 0.00002
NM_000787.4(DBH):c.1563-3C>T rs540054463 0.00002
NM_000787.4(DBH):c.*315G>A rs886063662 0.00001
NM_000787.4(DBH):c.*383C>T rs886063663 0.00001
NM_000787.4(DBH):c.*482C>T rs1040634911 0.00001
NM_000787.4(DBH):c.*846G>A rs886063668 0.00001
NM_000787.4(DBH):c.1155C>T (p.Ile385=) rs752651309 0.00001
NM_000787.4(DBH):c.128G>A (p.Arg43His) rs779109570 0.00001
NM_000787.4(DBH):c.1300G>A (p.Val434Met) rs372010353 0.00001
NM_000787.4(DBH):c.1825G>A (p.Val609Ile) rs141570582 0.00001
NM_000787.4(DBH):c.259T>C (p.Phe87Leu) rs761327487 0.00001
NM_000787.4(DBH):c.407T>C (p.Val136Ala) rs886063657 0.00001
NM_000787.4(DBH):c.921+8C>T rs886063659 0.00001
NM_000787.4(DBH):c.*116G>A rs886063660
NM_000787.4(DBH):c.*180A>G rs1832368444
NM_000787.4(DBH):c.*253C>G rs749898125
NM_000787.4(DBH):c.*268A>G rs1832369760
NM_000787.4(DBH):c.*389_*390insACCCCC rs1554737844
NM_000787.4(DBH):c.*398C>T rs1832372715
NM_000787.4(DBH):c.*459A>G rs886063666
NM_000787.4(DBH):c.*493C>T rs1044246377
NM_000787.4(DBH):c.*565_*566del rs775021806
NM_000787.4(DBH):c.*844C>T rs151115868
NM_000787.4(DBH):c.1024+6C>G rs1611126
NM_000787.4(DBH):c.1128C>A (p.Ala376=) rs763415382
NM_000787.4(DBH):c.1206C>T (p.Ser402=) rs143743431
NM_000787.4(DBH):c.1221C>T (p.Phe407=) rs367783759
NM_000787.4(DBH):c.1434+9C>T rs1832270556
NM_000787.4(DBH):c.153C>G (p.Ile51Met) rs1832054587
NM_000787.4(DBH):c.1556T>C (p.Ile519Thr) rs537856898
NM_000787.4(DBH):c.1557C>T (p.Ile519=) rs764026303
NM_000787.4(DBH):c.16C>A (p.Arg6Ser) rs111514228
NM_000787.4(DBH):c.1813G>A (p.Ala605Thr) rs1832363886
NM_000787.4(DBH):c.363G>A (p.Gly121=) rs763997950
NM_000787.4(DBH):c.450C>T (p.Pro150=) rs150007277
NM_000787.4(DBH):c.61A>G (p.Met21Val) rs1381096496
NM_000787.4(DBH):c.686C>A (p.Thr229Lys) rs200628504
NM_000787.4(DBH):c.736A>G (p.Ile246Val) rs983397516
NM_000787.4(DBH):c.852C>T (p.Asp284=) rs886063658
NM_000787.4(DBH):c.932A>G (p.Tyr311Cys) rs560578268

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.