ClinVar Miner

List of variants studied for Congenital defect of folate absorption by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_080669.6(SLC46A1):c.*4780C>T rs1128161 0.59678
NM_080669.6(SLC46A1):c.*4884G>T rs1128162 0.59676
NM_080669.6(SLC46A1):c.*4030C>T rs8079943 0.59408
NM_080669.6(SLC46A1):c.*3947G>A rs8081240 0.59034
NM_080669.6(SLC46A1):c.*1407C>T rs2239908 0.58189
NM_080669.6(SLC46A1):c.*928A>G rs2239907 0.53216
NM_080669.6(SLC46A1):c.*3062C>A rs2239911 0.51926
NM_080669.6(SLC46A1):c.*2853G>A rs739439 0.12712
NM_080669.6(SLC46A1):c.*3266G>A rs73273104 0.03547
NM_080669.6(SLC46A1):c.*3785T>C rs117451747 0.02019
NM_080669.6(SLC46A1):c.*729G>A rs41297903 0.01106
NM_080669.6(SLC46A1):c.*4316C>G rs117397871 0.01065
NM_080669.6(SLC46A1):c.*2123G>C rs7225850 0.00854
NM_080669.6(SLC46A1):c.*2746G>A rs11871687 0.00541
NM_080669.6(SLC46A1):c.*2217A>G rs41297923 0.00539
NM_080669.6(SLC46A1):c.*1243A>G rs41297909 0.00501
NM_080669.6(SLC46A1):c.*2248T>C rs8082600 0.00495
NM_080669.6(SLC46A1):c.*692A>T rs112801276 0.00456
NM_080669.6(SLC46A1):c.*3120A>G rs147971222 0.00348
NM_080669.6(SLC46A1):c.*1648G>A rs114008979 0.00295
NM_080669.6(SLC46A1):c.756C>G (p.Val252=) rs185900287 0.00274
NM_080669.6(SLC46A1):c.883A>G (p.Thr295Ala) rs34552966 0.00263
NM_080669.6(SLC46A1):c.*2852C>T rs569526091 0.00243
NM_080669.6(SLC46A1):c.*4729del rs559270240 0.00232
NM_080669.6(SLC46A1):c.*1795C>T rs200529579 0.00177
NM_080669.6(SLC46A1):c.*2724G>C rs139343092 0.00170
NM_080669.6(SLC46A1):c.*4661G>A rs575926704 0.00163
NM_080669.6(SLC46A1):c.642G>A (p.Leu214=) rs145398587 0.00145
NM_080669.6(SLC46A1):c.*4636C>T rs886052737 0.00116
NM_080669.6(SLC46A1):c.294C>A (p.Leu98=) rs371270310 0.00110
NM_080669.6(SLC46A1):c.*1831C>A rs41297915 0.00109
NM_080669.6(SLC46A1):c.*2843G>A rs118138669 0.00108
NM_080669.6(SLC46A1):c.158C>T (p.Ala53Val) rs41297069 0.00108
NM_080669.6(SLC46A1):c.512T>A (p.Val171Asp) rs189103810 0.00106
NM_080669.6(SLC46A1):c.22C>T (p.Pro8Ser) rs41297065 0.00102
NM_080669.6(SLC46A1):c.*1332G>A rs146041886 0.00101
NM_080669.6(SLC46A1):c.*1839G>A rs41297917 0.00101
NM_080669.6(SLC46A1):c.*1981C>G rs41297919 0.00099
NM_080669.6(SLC46A1):c.623A>T (p.Tyr208Phe) rs201837257 0.00088
NM_080669.6(SLC46A1):c.972C>T (p.Leu324=) rs188529539 0.00081
NM_080669.6(SLC46A1):c.*835A>G rs181698246 0.00080
NM_080669.6(SLC46A1):c.*1649A>G rs779490495 0.00056
NM_080669.6(SLC46A1):c.295T>C (p.Phe99Leu) rs201862124 0.00054
NM_080669.6(SLC46A1):c.*1774A>G rs2239909 0.00050
NM_080669.6(SLC46A1):c.*2558C>T rs750056802 0.00037
NM_080669.6(SLC46A1):c.*4418C>T rs184621509 0.00034
NM_080669.6(SLC46A1):c.*3389G>A rs146812537 0.00029
NM_080669.6(SLC46A1):c.*671C>T rs41297123 0.00026
NM_080669.6(SLC46A1):c.*2262G>A rs782425144 0.00023
NM_080669.6(SLC46A1):c.*4071G>A rs908290461 0.00019
NM_080669.6(SLC46A1):c.*4091C>A rs1046966571 0.00017
NM_080669.6(SLC46A1):c.*1076G>A rs151184490 0.00012
NM_080669.6(SLC46A1):c.*2636C>A rs782382359 0.00012
NM_080669.6(SLC46A1):c.*1094A>G rs782533706 0.00011
NM_080669.6(SLC46A1):c.*1249G>A rs781824816 0.00011
NM_080669.6(SLC46A1):c.*1392C>A rs141940033 0.00011
NM_080669.6(SLC46A1):c.*2868G>A rs1028128966 0.00011
NM_080669.6(SLC46A1):c.*4804T>A rs781937251 0.00011
NM_080669.6(SLC46A1):c.*3959C>G rs886052738 0.00010
NM_080669.6(SLC46A1):c.-67G>T rs782796764 0.00010
NM_080669.6(SLC46A1):c.*4323C>G rs561043242 0.00009
NM_080669.6(SLC46A1):c.*3985A>T rs1031838882 0.00008
NM_080669.6(SLC46A1):c.85G>A (p.Val29Ile) rs41297067 0.00008
NM_080669.6(SLC46A1):c.*3279C>T rs539239937 0.00007
NM_080669.6(SLC46A1):c.849G>A (p.Gly283=) rs782306668 0.00007
NM_080669.6(SLC46A1):c.*1062G>A rs535633260 0.00006
NM_080669.6(SLC46A1):c.*11C>T rs782615925 0.00006
NM_080669.6(SLC46A1):c.*3135A>G rs762983414 0.00006
NM_080669.6(SLC46A1):c.*476G>A rs893997849 0.00006
NM_080669.6(SLC46A1):c.*60G>T rs41297121 0.00006
NM_080669.6(SLC46A1):c.898G>A (p.Asp300Asn) rs201540617 0.00006
NM_080669.6(SLC46A1):c.*1006A>C rs886052749 0.00004
NM_080669.6(SLC46A1):c.*2493A>G rs886052746 0.00004
NM_080669.6(SLC46A1):c.*297C>T rs1386304942 0.00004
NM_080669.6(SLC46A1):c.*351C>T rs1207587504 0.00004
NM_080669.6(SLC46A1):c.*785T>G rs886052750 0.00004
NM_080669.6(SLC46A1):c.389T>C (p.Val130Ala) rs369191223 0.00004
NM_080669.6(SLC46A1):c.*1336G>A rs1435694827 0.00003
NM_080669.6(SLC46A1):c.*2273A>G rs542078425 0.00003
NM_080669.6(SLC46A1):c.752T>C (p.Ile251Thr) rs782457383 0.00003
NM_080669.6(SLC46A1):c.*1298G>A rs139970165 0.00002
NM_080669.6(SLC46A1):c.*3661T>C rs782774927 0.00002
NM_080669.6(SLC46A1):c.-8G>A rs782192529 0.00002
NM_080669.6(SLC46A1):c.*1220A>G rs886052748 0.00001
NM_080669.6(SLC46A1):c.*129C>T rs886052752 0.00001
NM_080669.6(SLC46A1):c.*1521G>A rs988138947 0.00001
NM_080669.6(SLC46A1):c.*2027C>A rs149579635 0.00001
NM_080669.6(SLC46A1):c.*2808G>C rs886052744 0.00001
NM_080669.6(SLC46A1):c.*3789C>A rs886052740 0.00001
NM_080669.6(SLC46A1):c.*4158G>A rs1216449496 0.00001
NM_080669.6(SLC46A1):c.*4320A>G rs528235797 0.00001
NM_080669.6(SLC46A1):c.1367C>T (p.Pro456Leu) rs886052754 0.00001
NM_080669.6(SLC46A1):c.277G>A (p.Gly93Ser) rs374179004 0.00001
NM_080669.6(SLC46A1):c.462C>T (p.Leu154=) rs782480845 0.00001
NM_080669.6(SLC46A1):c.*1335C>T rs1390797851
NM_080669.6(SLC46A1):c.*1383A>G rs560836860
NM_080669.6(SLC46A1):c.*1627T>A rs886052747
NM_080669.6(SLC46A1):c.*1981C>T rs41297919
NM_080669.6(SLC46A1):c.*2401G>A rs555975005
NM_080669.6(SLC46A1):c.*2486T>C rs537647948
NM_080669.6(SLC46A1):c.*2513G>C rs576823032
NM_080669.6(SLC46A1):c.*2661G>C rs886052745
NM_080669.6(SLC46A1):c.*277A>G rs886052751
NM_080669.6(SLC46A1):c.*2901C>T rs2068129559
NM_080669.6(SLC46A1):c.*2945G>A rs1339848912
NM_080669.6(SLC46A1):c.*2968C>T rs12453383
NM_080669.6(SLC46A1):c.*3009= rs2239910
NM_080669.6(SLC46A1):c.*3009G>A rs2239910
NM_080669.6(SLC46A1):c.*3203A>G rs886052743
NM_080669.6(SLC46A1):c.*3302A>G rs886052742
NM_080669.6(SLC46A1):c.*3402A>G rs781986662
NM_080669.6(SLC46A1):c.*3456G>C rs372946020
NM_080669.6(SLC46A1):c.*3603C>T rs782370729
NM_080669.6(SLC46A1):c.*3677C>G rs886052741
NM_080669.6(SLC46A1):c.*3913A>T rs886052739
NM_080669.6(SLC46A1):c.*4035G>A rs569679076
NM_080669.6(SLC46A1):c.*4184T>G rs2068108606
NM_080669.6(SLC46A1):c.*4584C>T rs116278566
NM_080669.6(SLC46A1):c.*4634_*4635dup rs34879232
NM_080669.6(SLC46A1):c.*4635dup rs34879232
NM_080669.6(SLC46A1):c.*4742A>G rs886052736
NM_080669.6(SLC46A1):c.*4G>T rs886052753
NM_080669.6(SLC46A1):c.*90G>A rs782079474
NM_080669.6(SLC46A1):c.189G>C (p.Arg63Ser) rs41297071
NM_080669.6(SLC46A1):c.189G>T (p.Arg63Ser) rs41297071
NM_080669.6(SLC46A1):c.501C>G (p.Ser167=) rs2068243273
NM_080669.6(SLC46A1):c.667A>T (p.Thr223Ser) rs886052756
NM_080669.6(SLC46A1):c.904A>C (p.Lys302Gln) rs886052755
NM_080669.6(SLC46A1):c.906A>G (p.Lys302=) rs572650603

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