ClinVar Miner

List of variants in gene TFR2 reported by GeneReviews

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Gene type:
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Total variants: 23
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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.1364G>A (p.Arg455Gln) rs41303501 0.00218
NM_003227.4(TFR2):c.1770C>T (p.Asp590=) rs35704760 0.00188
NM_003227.4(TFR2):c.1403G>A (p.Arg468His) rs80338885 0.00066
NM_003227.4(TFR2):c.224C>T (p.Ala75Val) rs41302357 0.00014
NM_003227.4(TFR2):c.64G>A (p.Val22Ile) rs80338876 0.00014
NM_003227.4(TFR2):c.2374G>A (p.Gly792Arg) rs80338891 0.00006
NM_003227.4(TFR2):c.750C>G (p.Tyr250Ter) rs80338880 0.00003
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.2137-1G>A rs80338890 0.00001
NM_003227.4(TFR2):c.515T>A (p.Met172Lys) rs80338879 0.00001
NM_003227.4(TFR2):c.1232ACA[1] (p.Asn412del) rs80338883
NM_003227.4(TFR2):c.1469T>G (p.Leu490Arg) rs80338886
NM_003227.4(TFR2):c.1665del (p.Ser556fs) rs80338887
NM_003227.4(TFR2):c.1849GCCGTGGCCCAG[1] (p.617AVAQ[1]) rs80338888
NM_003227.4(TFR2):c.2228C>T (p.Ala743Val) rs80338875
NM_003227.4(TFR2):c.313C>T (p.Arg105Ter) rs80338878
NM_003227.4(TFR2):c.473+49C>A rs80338874
NM_003227.4(TFR2):c.88dup (p.Arg30fs) rs80338877
NM_003227.4(TFR2):c.949C>T (p.Gln317Ter) rs80338881
NM_003227.4(TFR2):c.97C>A (p.His33Asn) rs80338873

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