ClinVar Miner

List of variants in gene SLC46A1 studied for Congenital defect of folate absorption

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Total variants: 35
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HGVS dbSNP gnomAD frequency
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.642G>A (p.Leu214=) rs145398587 0.00145
NM_080669.6(SLC46A1):c.294C>A (p.Leu98=) rs371270310 0.00110
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.623A>T (p.Tyr208Phe) rs201837257 0.00088
NM_080669.6(SLC46A1):c.972C>T (p.Leu324=) rs188529539 0.00081
NM_080669.6(SLC46A1):c.295T>C (p.Phe99Leu) rs201862124 0.00054
NM_080669.6(SLC46A1):c.329G>A (p.Ser110Asn) rs201076728 0.00020
NM_080669.6(SLC46A1):c.85G>A (p.Val29Ile) rs41297067 0.00008
NM_080669.6(SLC46A1):c.849G>A (p.Gly283=) rs782306668 0.00007
NM_080669.6(SLC46A1):c.898G>A (p.Asp300Asn) rs201540617 0.00006
NM_080669.6(SLC46A1):c.1004C>A (p.Ala335Asp) rs281875208 0.00004
NM_080669.6(SLC46A1):c.341G>T (p.Arg114Leu) rs369959215 0.00004
NM_080669.6(SLC46A1):c.389T>C (p.Val130Ala) rs369191223 0.00004
NM_080669.6(SLC46A1):c.752T>C (p.Ile251Thr) rs782457383 0.00003
NM_080669.6(SLC46A1):c.277G>A (p.Gly93Ser) rs374179004 0.00001
NM_080669.6(SLC46A1):c.337C>T (p.Arg113Cys) rs80338770 0.00001
NM_080669.6(SLC46A1):c.462C>T (p.Leu154=) rs782480845 0.00001
NM_080669.6(SLC46A1):c.954C>G (p.Ser318Arg) rs80338772 0.00001
NM_080669.6(SLC46A1):c.1012G>C (p.Gly338Arg) rs281875209
NM_080669.6(SLC46A1):c.1061T>G (p.Ile354Ser) rs1567818058
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.194del (p.Gly65fs) rs80338769
NM_080669.6(SLC46A1):c.204_205del (p.Asn68fs) rs397515391
NM_080669.6(SLC46A1):c.337C>A (p.Arg113Ser) rs80338770
NM_080669.6(SLC46A1):c.439G>C (p.Gly147Arg) rs80338771
NM_080669.6(SLC46A1):c.487_493del (p.Ala163fs)
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
NM_080669.6(SLC46A1):c.981_982del (p.Tyr327_Cys328delinsTer) rs1597834560

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