ClinVar Miner

List of variants in gene MTR reported as benign for Disorders of Intracellular Cobalamin Metabolism

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Gene type:
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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_000254.3(MTR):c.*1361A>G rs1050993 0.72163
NM_000254.3(MTR):c.*1254A>C rs2853523 0.72155
NM_000254.3(MTR):c.*4639G>T rs10925264 0.72134
NM_000254.3(MTR):c.3711+15G>T rs3820571 0.70934
NM_000254.3(MTR):c.*2391G>C rs1050996 0.68841
NM_000254.3(MTR):c.*3682T>G rs6676866 0.57357
NM_000254.3(MTR):c.*4382C>T rs4659746 0.56629
NM_000254.3(MTR):c.3576C>T (p.Leu1192=) rs1131449 0.54121
NM_000254.3(MTR):c.3492C>A (p.Arg1164=) rs12070777 0.34762
NM_000254.3(MTR):c.3144A>G (p.Ala1048=) rs2229276 0.34551
NM_000254.3(MTR):c.*2560A>G rs9779 0.34433
NM_000254.3(MTR):c.*905G>A rs1131450 0.28356
NM_000254.3(MTR):c.2594+15T>C rs1770449 0.27320
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_000254.3(MTR):c.*1684C>T rs1804742 0.20553
NM_000254.3(MTR):c.*5909C>T rs14354 0.16234
NM_000254.3(MTR):c.3712-8T>C rs12022937 0.15072
NM_000254.3(MTR):c.*4286T>C rs6679990 0.12174
NM_000254.3(MTR):c.*2804T>C rs10925263 0.11861
NM_000254.3(MTR):c.*5837dup rs3216014 0.09233
NM_000254.3(MTR):c.*153A>G rs11799670 0.07653
NM_000254.3(MTR):c.*1488T>C rs3768160 0.06512
NM_000254.3(MTR):c.*1469T>C rs3768159 0.06248
NM_000254.3(MTR):c.*4065A>G rs6677090 0.06242
NM_000254.3(MTR):c.*3140G>A rs3768161 0.05915
NM_000254.3(MTR):c.340-6C>T rs7526063 0.05512
NM_000254.3(MTR):c.*3464A>G rs61400757 0.05471
NM_000254.3(MTR):c.*5535G>A rs16834541 0.05370
NM_000254.3(MTR):c.*3601G>A rs59514993 0.05358
NM_000254.3(MTR):c.*1383C>T rs73131123 0.04892
NM_000254.3(MTR):c.-67C>T rs3738547 0.02790
NM_000254.3(MTR):c.*2388G>C rs78990641 0.02147
NM_000254.3(MTR):c.*5170A>G rs6680753 0.02033
NM_000254.3(MTR):c.3665A>G (p.Asn1222Ser) rs61739582 0.02033
NM_000254.3(MTR):c.940G>A (p.Asp314Asn) rs2229274 0.01853
NM_000254.3(MTR):c.3491G>A (p.Arg1164His) rs61736326 0.01657
NM_000254.3(MTR):c.*4866T>G rs45563435 0.01607
NM_000254.3(MTR):c.*4776A>C rs79548228 0.01370
NM_000254.3(MTR):c.3496C>T (p.Leu1166=) rs12030699 0.01249
NM_000254.3(MTR):c.3599-10C>A rs41530146 0.01080
NM_000254.3(MTR):c.*3169A>T rs75398835 0.00680
NM_000254.3(MTR):c.1033G>A (p.Val345Ile) rs145006491 0.00514
NM_000254.3(MTR):c.3474G>A (p.Leu1158=) rs142113735 0.00510
NM_000254.3(MTR):c.*4097C>T rs11803836 0.00493
NM_000254.3(MTR):c.*943T>C rs536644478 0.00450
NM_000254.3(MTR):c.*860A>G rs539366380 0.00448
NM_000254.3(MTR):c.*4648G>A rs142399284 0.00445
NM_000254.3(MTR):c.*3910G>A rs548764271 0.00444
NM_000254.3(MTR):c.*1350A>G rs114316012 0.00443
NM_000254.3(MTR):c.1437C>T (p.Asp479=) rs115424814 0.00432
NM_000254.3(MTR):c.2815G>C (p.Gly939Arg) rs113042166 0.00401
NM_000254.3(MTR):c.*2584C>T rs112752174 0.00344
NM_000254.3(MTR):c.250-7G>A rs184332230 0.00277
NM_000254.3(MTR):c.*1912G>T rs187377255 0.00222
NM_000254.3(MTR):c.3477C>T (p.Asp1159=) rs117061132 0.00106
NM_000254.3(MTR):c.3712-7T>G rs151081130 0.00036
NM_000254.3(MTR):c.3583A>G (p.Ile1195Val) rs149476106 0.00026
NM_000254.3(MTR):c.*2114A>G rs374226121 0.00001
NM_000254.3(MTR):c.*112A>C rs2853522
NM_000254.3(MTR):c.*2774dup rs34686098
NM_000254.3(MTR):c.*2775_*2776del rs1553332314
NM_000254.3(MTR):c.*3174C>T rs41305961
NM_000254.3(MTR):c.*3512G>A rs41305971
NM_000254.3(MTR):c.*3824del rs398089986
NM_000254.3(MTR):c.*5294G>C rs16834539
NM_000254.3(MTR):c.*5756C>A rs16834543
NM_000254.3(MTR):c.*5756C>G rs16834543
NM_000254.3(MTR):c.*5882G>A rs2282368
NM_000254.3(MTR):c.*773del rs796166778

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