ClinVar Miner

List of variants in gene MTRR reported by GeneDx

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Gene type:
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Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_002454.3(MTRR):c.1558-327G>A rs162051 0.89362
NM_002454.3(MTRR):c.1057+164G>C rs162038 0.84797
NM_002454.3(MTRR):c.1057+137T>C rs162037 0.84476
NM_002454.3(MTRR):c.1557+95G>A rs162049 0.80401
NM_002454.3(MTRR):c.129+228_129+230del rs2308000 0.56898
NM_002454.3(MTRR):c.402-226C>T rs161869 0.49223
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) rs1532268 0.31601
NM_002454.3(MTRR):c.1911G>A (p.Ala637=) rs1802059 0.31218
NM_002454.3(MTRR):c.1953-177T>C rs62342557 0.30475
NM_002454.3(MTRR):c.284-64C>G rs2303079 0.22681
NM_002454.3(MTRR):c.781-80G>A rs162035 0.22379
NM_002454.3(MTRR):c.903+751G>C rs62342528 0.21886
NM_002454.3(MTRR):c.1676+286G>A rs57989551 0.21768
NM_002454.3(MTRR):c.1953-183A>G rs327592 0.20989
NM_002454.3(MTRR):c.537T>C (p.Leu179=) rs161870 0.20980
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg) rs162036 0.20973
NM_002454.3(MTRR):c.781-289C>T rs162034 0.20696
NM_002454.3(MTRR):c.1328-275A>G rs56219526 0.18469
NM_002454.3(MTRR):c.904-288T>C rs16879305 0.18409
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr) rs10380 0.18188
NM_002454.3(MTRR):c.283+279G>A rs61536869 0.18160
NM_002454.3(MTRR):c.780+168G>A rs57937475 0.18070
NM_002454.3(MTRR):c.1370+83A>G rs2303081 0.18065
NM_002454.3(MTRR):c.1557+54T>C rs16879356 0.17987
NM_002454.3(MTRR):c.1953-118G>C rs10520874 0.17965
NM_002454.3(MTRR):c.1557+227C>T rs2277958 0.17838
NM_002454.3(MTRR):c.1243C>T (p.Arg415Cys) rs2287780 0.04230
NM_002454.3(MTRR):c.1155G>A (p.Leu385=) rs2287779 0.04224
NM_002454.3(MTRR):c.903+518T>A rs77578255 0.03893
NM_002454.3(MTRR):c.1370+269C>T rs16879342 0.03891
NM_002454.3(MTRR):c.1371-196A>T rs2277957 0.03883
NM_002454.3(MTRR):c.1349C>G (p.Pro450Arg) rs16879334 0.03856
NM_002454.3(MTRR):c.401+210G>A rs79066534 0.03262
NM_002454.3(MTRR):c.769T>A (p.Ser257Thr) rs2303080 0.03048
NM_002454.3(MTRR):c.1676+20A>G rs2303082 0.03042
NM_002454.3(MTRR):c.1371-124A>C rs13361303 0.02723
NM_002454.3(MTRR):c.1676+57C>T rs162052 0.02510
NM_002454.3(MTRR):c.1327+158A>G rs162043 0.02505
NM_002454.3(MTRR):c.1536C>T (p.Ser512=) rs34172797 0.01824
NM_002454.3(MTRR):c.1058-160A>G rs139816229 0.01796
NM_002454.3(MTRR):c.1370+69A>C rs79735541 0.01738
NM_002454.3(MTRR):c.1058-86C>A rs79408444 0.01737
NM_002454.3(MTRR):c.1952+176G>A rs41283147 0.01737
NM_002454.3(MTRR):c.1058-204T>C rs146422600 0.01709
NM_002454.3(MTRR):c.1464A>G (p.Val488=) rs35890938 0.01708
NM_002454.3(MTRR):c.*151A>G rs112465197 0.01706
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=) rs6874544 0.01706
NM_002454.3(MTRR):c.781-291G>T rs6879300 0.01690
NM_002454.3(MTRR):c.1146+150G>A rs142261195 0.01605
NM_002454.3(MTRR):c.1953-124T>G rs142412032 0.01605
NM_002454.3(MTRR):c.*49A>G rs142538539 0.01601
NM_002454.3(MTRR):c.1371-245A>G rs141001076 0.01600
NM_002454.3(MTRR):c.1370+19G>A rs113005255 0.01540
NM_002454.3(MTRR):c.129+152C>G rs7722483 0.01533
NM_002454.3(MTRR):c.130-272C>T rs114713553 0.01529
NM_002454.3(MTRR):c.1557+47T>G rs41282643 0.01142
NM_002454.3(MTRR):c.*167A>G rs115253331 0.01048
NM_002454.3(MTRR):c.1653G>A (p.Pro551=) rs139206262 0.00700
NC_000005.10:g.7869040G>A rs142579733 0.00577
NM_002454.3(MTRR):c.1676+137G>A rs73034455 0.00555
NM_002454.3(MTRR):c.903+265G>A rs184474926 0.00506
NM_002454.3(MTRR):c.288C>T (p.Leu96=) rs35587995 0.00500
NM_002454.3(MTRR):c.1057+22C>T rs114514595 0.00419
NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala) rs41283145 0.00414
NM_002454.3(MTRR):c.1819G>A (p.Val607Ile) rs114259126 0.00366
NM_002454.3(MTRR):c.876C>T (p.Thr292=) rs144724549 0.00341
NM_002454.3(MTRR):c.284-34T>C rs147475536 0.00334
NM_002454.3(MTRR):c.210C>G (p.Arg70=) rs41282641 0.00303
NM_002454.3(MTRR):c.1326C>T (p.Leu442=) rs144781389 0.00274
NM_002454.3(MTRR):c.1982A>G (p.His661Arg) rs148909799 0.00196
NM_002454.3(MTRR):c.177C>G (p.Thr59=) rs142098262 0.00147
NM_002454.3(MTRR):c.1544C>T (p.Ala515Val) rs16879355 0.00145
NM_002454.3(MTRR):c.144C>T (p.Thr48=) rs138612190 0.00120
NM_002454.3(MTRR):c.828G>A (p.Val276=) rs115289458 0.00120
NM_002454.3(MTRR):c.781-14A>G rs112996747 0.00104
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr) rs144899305 0.00096
NM_002454.3(MTRR):c.446C>T (p.Ala149Val) rs142714881 0.00077
NM_002454.3(MTRR):c.54C>T (p.Ile18=) rs6413426 0.00062
NM_002454.3(MTRR):c.1770-42G>C rs2287781 0.00061
NM_002454.3(MTRR):c.540G>A (p.Val180=) rs149037732 0.00046
NM_002454.3(MTRR):c.2071C>T (p.Arg691Cys) rs148414435 0.00023
NM_002454.3(MTRR):c.463A>C (p.Arg155=) rs556611332 0.00016
NM_002454.3(MTRR):c.1020C>T (p.Cys340=) rs201348649 0.00010
NM_002454.3(MTRR):c.1677-2dup rs747255318 0.00009
NM_002454.3(MTRR):c.1058-17C>T rs754619256 0.00008
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter) rs147277149 0.00007
NM_002454.3(MTRR):c.1370+18C>T rs374485961 0.00006
NM_002454.3(MTRR):c.1147-16G>A rs143842562 0.00004
NM_002454.3(MTRR):c.402-19G>A rs192942300 0.00004
NM_002454.3(MTRR):c.1188T>C (p.Ala396=) rs763760088 0.00003
NM_002454.3(MTRR):c.129+16G>A rs1443181788 0.00003
NM_002454.3(MTRR):c.1575A>C (p.Arg525=) rs369430052 0.00002
NM_002454.3(MTRR):c.1641C>T (p.Thr547=) rs1044675786 0.00002
NM_002454.3(MTRR):c.166G>A (p.Val56Met) rs761061866 0.00002
NM_002454.3(MTRR):c.1769+14C>T rs760216011 0.00002
NM_002454.3(MTRR):c.766G>T (p.Glu256Ter) rs375908206 0.00002
NM_002454.3(MTRR):c.1086G>A (p.Ala362=) rs750381895 0.00001
NM_002454.3(MTRR):c.13C>T (p.Leu5=) rs763313419 0.00001
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter) rs1293600145 0.00001
NM_002454.3(MTRR):c.2052C>T (p.Ala684=) rs1427160228 0.00001
NM_002454.3(MTRR):c.780+20T>C rs563392085 0.00001
NM_002454.3(MTRR):c.781-4C>G rs1057521905 0.00001
NM_002454.3(MTRR):c.1006A>G (p.Lys336Glu) rs1057521495
NM_002454.3(MTRR):c.1057+131A>G rs78869385
NM_002454.3(MTRR):c.1057+8C>G rs1325906968
NM_002454.3(MTRR):c.1058-141del rs35035568
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del) rs796052001
NM_002454.3(MTRR):c.1328-109_1328-105del rs147910094
NM_002454.3(MTRR):c.1676+86T>C rs6868871
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs) rs768980918
NM_002454.3(MTRR):c.178A>G (p.Thr60Ala) rs114930926
NM_002454.3(MTRR):c.186C>T (p.Thr62=) rs940332374
NM_002454.3(MTRR):c.1875G>A (p.Val625=) rs12347
NM_002454.3(MTRR):c.1875G>T (p.Val625=) rs12347
NM_002454.3(MTRR):c.1952+67G>C rs143443590
NM_002454.3(MTRR):c.75A>G (p.Gln25=) rs1553999358
NM_002454.3(MTRR):c.903+236_903+248del rs879908610
NM_002454.3(MTRR):c.904-128dup rs758181172
NM_002454.3(MTRR):c.904-20_904-19insTC rs1554003809
NM_002454.3(MTRR):c.904-20dup rs11398509
NM_002454.3(MTRR):c.904-21_904-20dup rs11398509
NM_002454.3(MTRR):c.997C>G (p.Leu333Val) rs10064631

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