ClinVar Miner

List of variants studied for Hemochromatosis type 3 by Baylor Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003227.4(TFR2):c.2374G>A (p.Gly792Arg) rs80338891 0.00006
NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter) rs1051249273 0.00005
NM_003227.4(TFR2):c.2343G>A (p.Trp781Ter) rs768907730 0.00004
NM_003227.4(TFR2):c.1186C>T (p.Arg396Ter) rs80338882 0.00001
NM_003227.4(TFR2):c.1330G>A (p.Ala444Thr) rs80338884 0.00001
NM_003227.4(TFR2):c.1606-2A>G rs750609759 0.00001
NM_003227.4(TFR2):c.1870C>T (p.Gln624Ter) rs1220336558 0.00001
NM_003227.4(TFR2):c.2025C>G (p.Tyr675Ter) rs1405776096 0.00001
NM_003227.4(TFR2):c.2128_2132del (p.Ile710fs) rs765525417 0.00001
NM_003227.4(TFR2):c.2137-1G>A rs80338890 0.00001
NM_003227.4(TFR2):c.1046C>G (p.Ser349Ter)
NM_003227.4(TFR2):c.1069C>T (p.Gln357Ter)
NM_003227.4(TFR2):c.1071_1075del (p.Gln357fs)
NM_003227.4(TFR2):c.10dup (p.Leu4fs)
NM_003227.4(TFR2):c.1232ACA[1] (p.Asn412del) rs80338883
NM_003227.4(TFR2):c.1235A>T (p.Asn412Ile)
NM_003227.4(TFR2):c.1271-1G>A
NM_003227.4(TFR2):c.1288G>A (p.Gly430Arg) rs780902940
NM_003227.4(TFR2):c.1308G>A (p.Trp436Ter)
NM_003227.4(TFR2):c.1390+2dup
NM_003227.4(TFR2):c.1398del (p.Arg468fs) rs773050231
NM_003227.4(TFR2):c.1467G>A (p.Trp489Ter)
NM_003227.4(TFR2):c.1470del (p.Glu491fs)
NM_003227.4(TFR2):c.1474-1G>A
NM_003227.4(TFR2):c.1606-8A>G
NM_003227.4(TFR2):c.1682+1G>T
NM_003227.4(TFR2):c.1767+1G>T rs2131312371
NM_003227.4(TFR2):c.1793dup (p.His598fs)
NM_003227.4(TFR2):c.1811dup (p.Tyr604Ter) rs1803297757
NM_003227.4(TFR2):c.1849GCCGTGGCCCAG[1] (p.617AVAQ[1]) rs80338888
NM_003227.4(TFR2):c.1921del (p.Leu641fs)
NM_003227.4(TFR2):c.193del (p.Arg65fs)
NM_003227.4(TFR2):c.1995+1G>T
NM_003227.4(TFR2):c.1995+2T>A
NM_003227.4(TFR2):c.2033G>C (p.Arg678Pro) rs786204108
NM_003227.4(TFR2):c.2038dup (p.Asp680fs) rs1562837669
NM_003227.4(TFR2):c.2056G>T (p.Glu686Ter)
NM_003227.4(TFR2):c.2093_2096del (p.Arg698fs)
NM_003227.4(TFR2):c.2095_2096del (p.Asp699fs) rs1562837561
NM_003227.4(TFR2):c.2101C>T (p.Arg701Ter) rs946552921
NM_003227.4(TFR2):c.2136+1G>A rs781427471
NM_003227.4(TFR2):c.2136+2T>A
NM_003227.4(TFR2):c.2168C>A (p.Ser723Ter)
NM_003227.4(TFR2):c.2183dup (p.Phe729fs) rs1803096138
NM_003227.4(TFR2):c.219del (p.Trp74fs)
NM_003227.4(TFR2):c.2227_2228del (p.Ala743fs) rs1463281712
NM_003227.4(TFR2):c.2227del (p.Ala743fs)
NM_003227.4(TFR2):c.2236dup (p.Asp746fs) rs777027788
NM_003227.4(TFR2):c.2318_2324delinsTGGAAACG (p.Arg773fs)
NM_003227.4(TFR2):c.287-2A>G
NM_003227.4(TFR2):c.313C>T (p.Arg105Ter) rs80338878
NM_003227.4(TFR2):c.33+1del rs1803699632
NM_003227.4(TFR2):c.34-2A>C
NM_003227.4(TFR2):c.34-2A>G
NM_003227.4(TFR2):c.34C>T (p.Gln12Ter) rs2131328001
NM_003227.4(TFR2):c.37C>T (p.Gln13Ter)
NM_003227.4(TFR2):c.405_406del (p.Tyr136fs) rs868823304
NM_003227.4(TFR2):c.410G>A (p.Trp137Ter)
NM_003227.4(TFR2):c.443dup (p.Glu150fs)
NM_003227.4(TFR2):c.523_524del (p.Leu175fs)
NM_003227.4(TFR2):c.58C>T (p.Gln20Ter)
NM_003227.4(TFR2):c.591C>G (p.Tyr197Ter)
NM_003227.4(TFR2):c.651del (p.Lys219fs)
NM_003227.4(TFR2):c.661G>T (p.Gly221Ter) rs763292953
NM_003227.4(TFR2):c.66_67del (p.Tyr23fs)
NM_003227.4(TFR2):c.727G>T (p.Gly243Ter)
NM_003227.4(TFR2):c.741C>G (p.Tyr247Ter)
NM_003227.4(TFR2):c.754_763delinsGCGTAC (p.Arg252fs)
NM_003227.4(TFR2):c.862C>T (p.Gln288Ter) rs1398396879
NM_003227.4(TFR2):c.880G>T (p.Gly294Ter)

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.