ClinVar Miner

List of variants reported as benign for Disorders of Intracellular Cobalamin Metabolism

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ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_015702.3(MMADHC):c.*89T>C rs6742604 0.99742
NM_015702.3(MMADHC):c.453G>A (p.Gln151=) rs11545261 0.78682
NM_015506.3(MMACHC):c.*1700A>G rs1044717 0.73398
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_015506.3(MMACHC):c.*1260G>A rs882803 0.66049
NM_015506.3(MMACHC):c.*1376_*1377insT rs5773883 0.66038
NM_002454.3(MTRR):c.*662T>A rs8659 0.57728
NM_002454.3(MTRR):c.*826del rs36045697 0.57717
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_015702.3(MMADHC):c.*126A>G rs6923 0.49161
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_015506.3(MMACHC):c.*969C>G rs11580609 0.43704
NM_015506.3(MMACHC):c.*1585G>C rs7903 0.43401
NM_015506.3(MMACHC):c.321G>A (p.Val107=) rs2275276 0.43226
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_002454.3(MTRR):c.524C>T (p.Ser175Leu) rs1532268 0.31601
NM_002454.3(MTRR):c.1911G>A (p.Ala637=) rs1802059 0.31218
NM_000254.3(MTR):c.*905G>A rs1131450 0.28356
NM_000254.3(MTR):c.2594+15T>C rs1770449 0.27320
NM_015506.3(MMACHC):c.*279A>G rs9729395 0.22677
NM_002454.2(MTRR):c.*1059T>C rs10520873 0.21744
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
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.*541G>A rs9332 0.20936
NM_000254.3(MTR):c.*1684C>T rs1804742 0.20553
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr) rs10380 0.18188
NM_002454.2(MTRR):c.-119T>C rs72716536 0.16355
NM_000254.3(MTR):c.*5909C>T rs14354 0.16234
NM_002454.3(MTRR):c.*427T>C rs9282787 0.15820
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_015506.3(MMACHC):c.*1362G>A rs12728919 0.10365
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_002454.3(MTRR):c.*644A>G rs9282789 0.05197
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601 0.04960
NM_000254.3(MTR):c.*1383C>T rs73131123 0.04892
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.1349C>G (p.Pro450Arg) rs16879334 0.03856
NM_002454.3(MTRR):c.769T>A (p.Ser257Thr) rs2303080 0.03048
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272 0.02835
NM_000254.3(MTR):c.-67C>T rs3738547 0.02790
NM_015702.3(MMADHC):c.-49T>C rs79997772 0.02222
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_002454.3(MTRR):c.1536C>T (p.Ser512=) rs34172797 0.01824
NM_002454.3(MTRR):c.*648C>A rs9282790 0.01738
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.*461T>C rs9282788 0.01706
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=) rs6874544 0.01706
NM_000254.3(MTR):c.3491G>A (p.Arg1164His) rs61736326 0.01657
NM_015702.3(MMADHC):c.478+6T>G rs13402787 0.01622
NM_000254.3(MTR):c.*4866T>G rs45563435 0.01607
NM_002454.3(MTRR):c.*49A>G rs142538539 0.01601
NM_000254.3(MTR):c.-201C>G rs111840642 0.01495
NM_000254.3(MTR):c.*4776A>C rs79548228 0.01370
NM_015506.3(MMACHC):c.738C>T (p.Pro246=) rs16832550 0.01337
NM_015506.3(MMACHC):c.*269A>G rs35067820 0.01308
NM_000254.3(MTR):c.3496C>T (p.Leu1166=) rs12030699 0.01249
NM_000254.3(MTR):c.3599-10C>A rs41530146 0.01080
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys) rs61746421 0.01067
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile) rs34886916 0.01066
NM_002454.3(MTRR):c.*167A>G rs115253331 0.01048
NM_015702.3(MMADHC):c.*164A>G rs147662711 0.00973
NM_000254.3(MTR):c.-151C>T rs41305572 0.00828
NM_000254.3(MTR):c.-111C>T rs113809927 0.00822
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_002454.3(MTRR):c.1653G>A (p.Pro551=) rs139206262 0.00700
NM_000254.3(MTR):c.*3169A>T rs75398835 0.00680
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) rs114276563 0.00611
NM_002454.3(MTRR):c.*64T>C rs327591 0.00585
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_002454.3(MTRR):c.288C>T (p.Leu96=) rs35587995 0.00500
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_002454.3(MTRR):c.1819G>A (p.Val607Ile) rs114259126 0.00366
NM_000254.3(MTR):c.*2584C>T rs112752174 0.00344
NM_002454.3(MTRR):c.876C>T (p.Thr292=) rs144724549 0.00341
NM_000254.3(MTR):c.250-7G>A rs184332230 0.00277
NM_000254.3(MTR):c.*1912G>T rs187377255 0.00222
NM_002454.3(MTRR):c.*401T>C rs148477709 0.00189
NM_002454.3(MTRR):c.177C>G (p.Thr59=) rs142098262 0.00147
NM_000254.3(MTR):c.3477C>T (p.Asp1159=) rs117061132 0.00106
NM_015506.3(MMACHC):c.*310G>A rs146159774 0.00101
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412 0.00051
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
NM_002454.3(MTRR):c.*222A>G rs145654110
NM_002454.3(MTRR):c.*626C>G rs79333264
NM_002454.3(MTRR):c.1875G>A (p.Val625=) rs12347
NM_002454.3(MTRR):c.997C>G (p.Leu333Val) rs10064631
NM_015506.3(MMACHC):c.*413G>A rs12021717
NM_015506.3(MMACHC):c.*853CT[1] rs398052965
NM_015702.3(MMADHC):c.-145A>G rs12477482

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