ClinVar Miner

List of variants in gene SLC52A3 reported by GeneReviews

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met) rs76947760 0.01629
NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu) rs145431028 0.00046
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390 0.00006
NM_033409.4(SLC52A3):c.796C>T (p.Arg266Trp) rs370499474 0.00003
NM_033409.4(SLC52A3):c.1238T>C (p.Val413Ala) rs267606687 0.00002
NM_033409.4(SLC52A3):c.394C>T (p.Arg132Trp) rs267606684 0.00002
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys) rs267606686 0.00001
NM_033409.4(SLC52A3):c.1296C>A (p.Cys432Ter) rs758570021 0.00001
NM_033409.4(SLC52A3):c.160G>A (p.Gly54Arg) rs797045191 0.00001
NM_033409.4(SLC52A3):c.211G>A (p.Glu71Lys) rs267606683 0.00001
NM_033409.4(SLC52A3):c.224T>C (p.Ile75Thr) rs797045193 0.00001
NM_033409.4(SLC52A3):c.710C>T (p.Ala237Val) rs773916730 0.00001
NM_033409.4(SLC52A3):c.935C>T (p.Ala312Val) rs752218005 0.00001
NM_033409.4(SLC52A3):c.1198-2A>C rs754753126
NM_033409.4(SLC52A3):c.1325_1326del (p.Leu442fs) rs794728004
NM_033409.4(SLC52A3):c.173T>A (p.Val58Asp) rs797045192
NM_033409.4(SLC52A3):c.211G>T (p.Glu71Ter) rs267606683
NM_033409.4(SLC52A3):c.49T>C (p.Trp17Arg) rs797045190
NM_033409.4(SLC52A3):c.568-16_568-15insCTGATTGAC rs3833341
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter) rs778363575
NM_033409.4(SLC52A3):c.659C>A (p.Pro220His) rs797045194
NM_033409.4(SLC52A3):c.670T>C (p.Phe224Leu) rs267606685
NM_033409.4(SLC52A3):c.82C>A (p.Pro28Thr) rs267606688
NM_033409.4(SLC52A3):c.955C>T (p.Pro319Ser) rs797045195
NM_033409.4(SLC52A3):c.986A>G (p.Tyr329Cys) rs2122516296
NM_033409.4(SLC52A3):c.989G>T (p.Gly330Val) rs797045196

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