ClinVar Miner

List of variants in gene TF studied for Atransferrinemia

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_001063.4(TF):c.-2A>G rs1130459 0.57926
NM_001063.4(TF):c.1572G>C (p.Leu524=) rs8649 0.26591
NM_001063.4(TF):c.624G>A (p.Ser208=) rs12769 0.26134
NM_001063.4(TF):c.1765C>T (p.Pro589Ser) rs1049296 0.13332
NM_001063.4(TF):c.739C>T (p.Leu247=) rs1799852 0.10437
NM_001063.3(TF):c.-84G>T rs8177186 0.07960
NM_001063.4(TF):c.804T>C (p.His268=) rs8177232 0.05865
NM_001063.4(TF):c.829G>A (p.Gly277Ser) rs1799899 0.04529
NM_001063.4(TF):c.1602C>T (p.Tyr534=) rs7845 0.01304
NM_001063.4(TF):c.887A>G (p.Asp296Gly) rs8177238 0.01230
NM_001063.4(TF):c.1614C>T (p.Gly538=) rs8177286 0.01173
NM_001063.4(TF):c.582A>G (p.Pro194=) rs8177226 0.01102
NM_001063.4(TF):c.1623-63del rs8177291 0.01085
NM_001063.4(TF):c.432C>T (p.Ser144=) rs41298987 0.01050
NM_001063.3(TF):c.-65G>C rs41298275 0.00626
NM_001063.4(TF):c.1688-4C>A rs185023567 0.00402
NM_001063.4(TF):c.417G>A (p.Thr139=) rs113868497 0.00362
NM_001063.4(TF):c.2012G>A (p.Gly671Glu) rs121918677 0.00299
NM_001063.4(TF):c.216+14G>C rs114449208 0.00299
NM_001063.4(TF):c.993G>A (p.Lys331=) rs140829783 0.00299
NM_001063.4(TF):c.333G>A (p.Gln111=) rs150548621 0.00252
NM_001063.4(TF):c.635+13T>A rs41298993 0.00246
NM_001063.4(TF):c.956A>G (p.His319Arg) rs41295774 0.00224
NM_001063.4(TF):c.1027C>T (p.Arg343Trp) rs150854910 0.00096
NM_001063.4(TF):c.228G>A (p.Ala76=) rs140381335 0.00072
NM_001063.4(TF):c.521C>T (p.Ser174Leu) rs150679929 0.00051
NM_001063.4(TF):c.43+8C>A rs368521553 0.00043
NM_001063.4(TF):c.1107C>T (p.His369=) rs112157819 0.00030
NM_001063.4(TF):c.119G>A (p.Ser40Asn) rs146477698 0.00030
NM_001063.4(TF):c.1302C>T (p.Ser434=) rs142542411 0.00026
NM_001063.4(TF):c.281A>G (p.Asn94Ser) rs200551981 0.00020
NM_001063.4(TF):c.1095G>A (p.Ala365=) rs575999145 0.00016
NM_001063.4(TF):c.165T>A (p.Ser55Arg) rs8177318 0.00016
NM_001063.4(TF):c.1352T>C (p.Val451Ala) rs142116896 0.00014
NM_001063.4(TF):c.227C>T (p.Ala76Val) rs41298977 0.00013
NM_001063.4(TF):c.215C>T (p.Ala72Val) rs142819812 0.00011
NM_001063.4(TF):c.1044C>T (p.Gly348=) rs139468631 0.00010
NM_001063.3(TF):c.-117G>A rs540606355 0.00009
NM_001063.4(TF):c.585G>A (p.Gly195=) rs376851470 0.00009
NM_001063.4(TF):c.*361T>C rs952581393 0.00008
NM_001063.4(TF):c.-18C>T rs781336514 0.00008
NM_001063.4(TF):c.1615G>A (p.Ala539Thr) rs369813809 0.00007
NM_001063.4(TF):c.154G>A (p.Asp52Asn) rs41298295 0.00006
NM_001063.4(TF):c.334A>G (p.Thr112Ala) rs199624323 0.00006
NM_001063.4(TF):c.790C>G (p.Gln264Glu) rs766883577 0.00004
NM_001063.4(TF):c.686T>C (p.Ile229Thr) rs764361166 0.00003
NM_001063.4(TF):c.502+12G>A rs201033555 0.00002
NM_001063.4(TF):c.828C>T (p.Gly276=) rs769998552 0.00002
NM_001063.4(TF):c.1029G>A (p.Arg343=) rs762383370 0.00001
NM_001063.4(TF):c.1180G>A (p.Glu394Lys) rs121918680 0.00001
NM_001063.4(TF):c.1198A>G (p.Ile400Val) rs200250866 0.00001
NM_001063.4(TF):c.1204-14C>A rs1406126776 0.00001
NM_001063.4(TF):c.1785C>T (p.Asn595=) rs757985238 0.00001
NM_001063.4(TF):c.229G>A (p.Asp77Asn) rs121918681 0.00001
NM_001063.4(TF):c.311A>G (p.Tyr104Cys) rs746672239 0.00001
NM_001063.4(TF):c.60C>T (p.Val20=) rs756125441 0.00001
NM_001063.4(TF):c.680C>T (p.Ser227Leu) rs1295939213 0.00001
NM_001063.4(TF):c.*81A>G rs886058015
NM_001063.4(TF):c.1429G>C (p.Ala477Pro) rs121918679
NM_001063.4(TF):c.142G>A (p.Val48Ile) rs144636315
NM_001063.4(TF):c.1444C>T (p.Pro482Ser) rs2107925842
NM_001063.4(TF):c.1687+9A>C rs886058014
NM_001063.4(TF):c.174T>A (p.Cys58Ter) rs1559867036
NM_001063.4(TF):c.1805C>A (p.Pro602Gln) rs41296598
NM_001063.4(TF):c.1825C>T (p.Arg609Trp) rs773139494
NM_001063.4(TF):c.2063-11_2063-10del rs2107937266
NM_001063.4(TF):c.562_564delinsAA (p.Gln188fs)

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