ClinVar Miner

List of variants reported as likely benign for Hemochromatosis type 3

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Total variants: 34
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HGVS dbSNP gnomAD frequency
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.2085G>C (p.Ser695=) rs150303632 0.01091
NM_003227.4(TFR2):c.1473G>A (p.Glu491=) rs139178017 0.00289
NM_003227.4(TFR2):c.*116C>T rs41296648 0.00230
NM_003227.4(TFR2):c.1762A>T (p.Met588Leu) rs143251494 0.00123
NM_003227.4(TFR2):c.2137-5C>T rs374964799 0.00111
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_003227.4(TFR2):c.1242C>T (p.Phe414=) rs150883560 0.00026
NM_003227.4(TFR2):c.19C>T (p.Leu7=) rs367635364 0.00024
NM_003227.4(TFR2):c.447G>A (p.Gly149=) rs41302366 0.00022
NM_003227.4(TFR2):c.1640A>T (p.Tyr547Phe) rs573769443 0.00021
NM_003227.4(TFR2):c.1863C>T (p.Ala621=) rs374489702 0.00013
NM_003227.4(TFR2):c.1305A>G (p.Ala435=) rs372014293 0.00012
NM_003227.4(TFR2):c.1076T>A (p.Ile359Asn) rs140020076 0.00010
NM_003227.4(TFR2):c.120C>T (p.Asp40=) rs370005999 0.00010
NM_003227.4(TFR2):c.1179C>T (p.Pro393=) rs149590949 0.00006
NM_003227.4(TFR2):c.1249A>G (p.Ile417Val) rs141101651 0.00006
NM_003227.4(TFR2):c.462G>A (p.Glu154=) rs761954336 0.00006
NM_003227.4(TFR2):c.2346G>A (p.Thr782=) rs367723987 0.00005
NM_003227.4(TFR2):c.1193G>A (p.Arg398Gln) rs202022975 0.00004
NM_003227.4(TFR2):c.2184G>A (p.Pro728=) rs982999802 0.00004
NM_003227.4(TFR2):c.2091G>A (p.Glu697=) rs748623879 0.00003
NM_003227.4(TFR2):c.2268C>T (p.Ser756=) rs760061994 0.00003
NM_003227.4(TFR2):c.1527C>T (p.Asn509=) rs201943504 0.00001
NM_003227.4(TFR2):c.177T>C (p.Pro59=) rs961591005 0.00001
NM_003227.4(TFR2):c.2277C>T (p.Pro759=) rs748376968 0.00001
NM_003227.4(TFR2):c.2400C>T (p.Asn800=) rs766681676 0.00001
NM_003227.4(TFR2):c.420C>G (p.Leu140=) rs778911966 0.00001
NM_003227.4(TFR2):c.690C>G (p.Asp230Glu) rs41303465 0.00001
NM_003227.4(TFR2):c.123G>C (p.Gly41=) rs779980249
NM_003227.4(TFR2):c.1605+10C>G rs577722163
NM_003227.4(TFR2):c.1767+7C>G rs41295912

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