ClinVar Miner

List of variants reported as likely pathogenic for Hemochromatosis type 3 by Baylor Genetics

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_003227.4(TFR2):c.2374G>A (p.Gly792Arg) rs80338891 0.00006
NM_003227.4(TFR2):c.2343G>A (p.Trp781Ter) rs768907730 0.00004
NM_003227.4(TFR2):c.1330G>A (p.Ala444Thr) rs80338884 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.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.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.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.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)

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