ClinVar Miner

List of variants reported as benign for hemochromatosis type 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.1007-47G>A rs1572982 0.52187
NC_000006.12:g.26086974G>C rs2794720 0.36679
NM_000410.4(HFE):c.340+4T>C rs2071303 0.35994
NC_000019.10:g.35281996A>G rs10421768 0.20972
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_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_003227.4(TFR2):c.2255G>A (p.Arg752His) rs41295942 0.02204
NM_003227.4(TFR2):c.2085G>C (p.Ser695=) rs150303632 0.01091
NM_000410.4(HFE):c.892+16G>C rs145172249 0.00734
NM_003227.4(TFR2):c.1449C>T (p.Ser483=) rs41295899 0.00652
NM_000410.4(HFE):c.1026C>T (p.Tyr342=) rs35201683 0.00515
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.1270+16A>G rs185470250 0.00399
NM_021175.4(HAMP):c.92C>T (p.Thr31Met) rs146776859 0.00322
NM_000410.4(HFE):c.189T>C (p.His63=) rs147426902 0.00305
NC_000019.10:g.35282425C>T rs142126068 0.00287
NM_003227.4(TFR2):c.1995+9G>C rs41295921 0.00213
NM_021175.4(HAMP):c.212G>A (p.Gly71Asp) rs104894696 0.00197
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+12C>T rs200864701 0.00096
NC_000019.10:g.35282506C>T rs367646034 0.00084
NM_003227.4(TFR2):c.225G>A (p.Ala75=) rs148140889 0.00079
NM_003227.4(TFR2):c.767T>G (p.Leu256Arg) rs200287731 0.00062
NM_000410.4(HFE):c.21G>A (p.Pro7=) rs114758821 0.00039
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.447G>A (p.Gly149=) rs41302366 0.00022
NM_000410.3(HFE):c.-48C>G rs41266793
NM_000410.4(HFE):c.1006+19del
NM_003227.4(TFR2):c.1473+16G>A
NM_003227.4(TFR2):c.1682+13G>C
NM_003227.4(TFR2):c.1682+13_1682+14dup
NM_003227.4(TFR2):c.1682+14del
NM_003227.4(TFR2):c.1682+14dup
NM_003227.4(TFR2):c.1682+9G>C rs41295906
NM_003227.4(TFR2):c.1767+7C>T rs41295912
NM_014585.5(SLC40A1):c.-312_-310dupCGG rs3833570
NM_014585.5(SLC40A1):c.-315_-310dupCGGCGG rs3833570
NM_021175.4(HAMP):c.150+12A>C

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