ClinVar Miner

List of variants reported as benign for Hemochromatosis type 3

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003227.4(TFR2):c.1851C>T (p.Ala617=) rs2075674 0.16252
NM_003227.4(TFR2):c.714C>G (p.Ile238Met) rs34242818 0.03989
NM_003227.4(TFR2):c.2255G>A (p.Arg752His) rs41295942 0.02204
NM_003227.4(TFR2):c.-39C>T rs41302354 0.00844
NM_003227.4(TFR2):c.1449C>T (p.Ser483=) rs41295899 0.00652
NM_003227.4(TFR2):c.135G>A (p.Ala45=) rs141968146 0.00479
NM_003227.4(TFR2):c.1941G>T (p.Gly647=) rs111760099 0.00439
NM_003227.4(TFR2):c.1127C>A (p.Ala376Asp) rs41303495 0.00384
NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln) rs41303501 0.00218
NM_003227.4(TFR2):c.1995+9G>C rs41295921 0.00213
NM_003227.4(TFR2):c.1770C>T (p.Asp590=) rs35704760 0.00188
NM_003227.4(TFR2):c.2278G>A (p.Gly760Arg) rs144665594 0.00184
NM_003227.4(TFR2):c.2172A>G (p.Pro724=) rs141140309 0.00121
NM_003227.4(TFR2):c.2137-5C>T rs374964799 0.00111
NM_003227.4(TFR2):c.473+8T>A rs148902192 0.00103
NM_003227.4(TFR2):c.727-9T>A rs200816061 0.00103
NM_003227.4(TFR2):c.849+6T>A rs41303468 0.00036
NM_003227.4(TFR2):c.1391-13C>A rs201483480 0.00034
NM_003227.4(TFR2):c.2367G>A (p.Ala789=) rs374766778 0.00009
NM_003227.4(TFR2):c.374A>C (p.Glu125Ala) rs749842107 0.00006
NM_003227.4(TFR2):c.1504G>A (p.Val502Ile) rs150618729 0.00001
NM_003227.4(TFR2):c.1206C>A (p.Asn402Lys) rs144917130
NM_003227.4(TFR2):c.1767+7C>T rs41295912

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.