ClinVar Miner

List of variants in gene TMPRSS6 reported as uncertain significance for hematologic disorder

Included ClinVar conditions (819):
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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_001374504.1(TMPRSS6):c.457C>T (p.Arg153Cys) rs116092750 0.00162
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.844G>A (p.Gly282Ser) rs145053404 0.00081
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.1085C>T (p.Thr362Met) rs144261072 0.00006
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.827T>G (p.Leu276Arg) rs372887020 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.1396G>A (p.Asp466Asn)
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.1655C>T (p.Ser552Leu)
NM_001374504.1(TMPRSS6):c.1842-31CCCCA[2] rs60484081
NM_001374504.1(TMPRSS6):c.1842_1843insCCACC (p.Met615fs)
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.2128G>A (p.Ala710Thr)
NM_001374504.1(TMPRSS6):c.251G>C (p.Arg84Pro) rs750512709
NM_001374504.1(TMPRSS6):c.262C>T (p.Arg88Cys)
NM_001374504.1(TMPRSS6):c.549G>A (p.Arg183=) rs964576902
NM_001374504.1(TMPRSS6):c.631G>T (p.Gly211Cys) rs2146149841
NM_001374504.1(TMPRSS6):c.65C>T (p.Ala22Val)
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.836+1G>A
NM_001374504.1(TMPRSS6):c.928T>C (p.Tyr310His) rs916375086
NM_001374504.1(TMPRSS6):c.957_958insGGAGACC (p.Pro320fs) rs1569012596

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