ClinVar Miner

List of variants reported as benign for Congenital defect of folate absorption by Illumina Laboratory Services, Illumina

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Total variants: 25
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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.*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.883A>G (p.Thr295Ala) rs34552966 0.00263
NM_080669.6(SLC46A1):c.*2843G>A rs118138669 0.00108
NM_080669.6(SLC46A1):c.*1774A>G rs2239909 0.00050
NM_080669.6(SLC46A1):c.*671C>T rs41297123 0.00026
NM_080669.6(SLC46A1):c.*2968C>T rs12453383
NM_080669.6(SLC46A1):c.*3009= rs2239910
NM_080669.6(SLC46A1):c.*4584C>T rs116278566
NM_080669.6(SLC46A1):c.*4635dup rs34879232
NM_080669.6(SLC46A1):c.189G>C (p.Arg63Ser) rs41297071

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