ClinVar Miner

List of variants in gene TMPRSS6 reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001374504.1(TMPRSS6):c.212C>T (p.Ala71Val) rs139563689 0.00151
NM_001374504.1(TMPRSS6):c.838G>T (p.Val280Leu) rs201148397 0.00114
NM_001374504.1(TMPRSS6):c.*499C>T rs560949530 0.00112
NM_001374504.1(TMPRSS6):c.183G>A (p.Val61=) rs150521260 0.00086
NM_001374504.1(TMPRSS6):c.1687G>A (p.Gly563Ser) rs148129773 0.00058
NM_001374504.1(TMPRSS6):c.1206C>T (p.Gly402=) rs146266448 0.00055
NM_001374504.1(TMPRSS6):c.243C>A (p.Gly81=) rs147397866 0.00045
NM_001374504.1(TMPRSS6):c.530C>T (p.Ser177Leu) rs139489941 0.00030
NM_001374504.1(TMPRSS6):c.2058C>G (p.Phe686Leu) rs375189210 0.00024
NM_001374504.1(TMPRSS6):c.1493C>T (p.Pro498Leu) rs138915369 0.00021
NM_001374504.1(TMPRSS6):c.632-8C>T rs375234781 0.00021
NM_001374504.1(TMPRSS6):c.451G>A (p.Glu151Lys) rs752163489 0.00018
NM_001374504.1(TMPRSS6):c.-1-218C>G rs576482552 0.00017
NM_001374504.1(TMPRSS6):c.2374G>A (p.Gly792Ser) rs140207191 0.00016
NM_001374504.1(TMPRSS6):c.1633C>T (p.Arg545Trp) rs140758411 0.00014
NM_001374504.1(TMPRSS6):c.411A>G (p.Gly137=) rs375681801 0.00014
NM_001374504.1(TMPRSS6):c.1338G>A (p.Ser446=) rs776737568 0.00013
NM_001374504.1(TMPRSS6):c.287G>A (p.Arg96His) rs768158521 0.00009
NM_001374504.1(TMPRSS6):c.882G>A (p.Ala294=) rs370192027 0.00009
NM_001374504.1(TMPRSS6):c.*212T>A rs781781005 0.00008
NM_001374504.1(TMPRSS6):c.127C>T (p.Arg43Cys) rs750274321 0.00006
NM_001374504.1(TMPRSS6):c.589+9T>C rs377665035 0.00005
NM_001374504.1(TMPRSS6):c.*35T>C rs199957731 0.00004
NM_001374504.1(TMPRSS6):c.2250+15C>T rs202222895 0.00004
NM_001374504.1(TMPRSS6):c.973+11del rs780218999 0.00004
NM_001374504.1(TMPRSS6):c.*303T>G rs886057490 0.00003
NM_001374504.1(TMPRSS6):c.*140C>T rs886057491 0.00002
NM_001374504.1(TMPRSS6):c.*24G>A rs182366825 0.00002
NM_001374504.1(TMPRSS6):c.1440C>T (p.Cys480=) rs546574834 0.00002
NM_001374504.1(TMPRSS6):c.1762C>T (p.Arg588Trp) rs773272073 0.00002
NM_001374504.1(TMPRSS6):c.2204G>A (p.Arg735His) rs371794539 0.00002
NM_001374504.1(TMPRSS6):c.2250+7C>A rs763966214 0.00002
NM_001374504.1(TMPRSS6):c.656G>A (p.Gly219Asp) rs754848810 0.00002
NM_001374504.1(TMPRSS6):c.1086G>A (p.Thr362=) rs976867694 0.00001
NM_001374504.1(TMPRSS6):c.1197-4C>G rs529716198 0.00001
NM_001374504.1(TMPRSS6):c.2004G>A (p.Pro668=) rs565997258 0.00001
NM_001374504.1(TMPRSS6):c.2099C>T (p.Ala700Val) rs770790879 0.00001
NM_001374504.1(TMPRSS6):c.334A>G (p.Met112Val) rs766769149 0.00001
NM_001374504.1(TMPRSS6):c.648C>A (p.Ser216Arg) rs758253807 0.00001
NM_001374504.1(TMPRSS6):c.693C>T (p.His231=) rs769301726 0.00001
NM_001374504.1(TMPRSS6):c.865G>A (p.Val289Met) rs1319296800 0.00001
NM_001374504.1(TMPRSS6):c.*251T>A rs1926220781
NM_001374504.1(TMPRSS6):c.1069T>C (p.Cys357Arg) rs886057492
NM_001374504.1(TMPRSS6):c.124C>T (p.Leu42Phe) rs747170531
NM_001374504.1(TMPRSS6):c.1309C>G (p.Arg437Gly) rs117576908
NM_001374504.1(TMPRSS6):c.1355A>G (p.Glu452Gly) rs865982171
NM_001374504.1(TMPRSS6):c.143T>A (p.Phe48Tyr) rs745388319
NM_001374504.1(TMPRSS6):c.163G>T (p.Val55Leu) rs1298407272
NM_001374504.1(TMPRSS6):c.1651G>A (p.Gly551Ser) rs375396615
NM_001374504.1(TMPRSS6):c.1851C>T (p.Ser617=) rs1926663670
NM_001374504.1(TMPRSS6):c.1999C>T (p.His667Tyr) rs1359150426
NM_001374504.1(TMPRSS6):c.2014T>C (p.Ser672Pro) rs1384127820
NM_001374504.1(TMPRSS6):c.251G>C (p.Arg84Pro) rs750512709
NM_001374504.1(TMPRSS6):c.549G>A (p.Arg183=) rs964576902
NM_001374504.1(TMPRSS6):c.752G>T (p.Arg251Leu) rs749277509
NM_001374504.1(TMPRSS6):c.780G>A (p.Arg260=) rs1391985221
NM_001374504.1(TMPRSS6):c.928T>C (p.Tyr310His) rs916375086
NM_001374504.1(TMPRSS6):c.957_958insGGAGACC (p.Pro320fs) rs1569012596

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.