ClinVar Miner

List of variants in gene SLC29A3 reported by Genetic Services Laboratory, University of Chicago

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_018344.6(SLC29A3):c.383+8A>G rs2243540 0.87959
NM_018344.6(SLC29A3):c.976A>G (p.Ile326Val) rs2487068 0.87306
NM_018344.6(SLC29A3):c.714T>C (p.Thr238=) rs2252997 0.87276
NM_018344.6(SLC29A3):c.715G>A (p.Val239Ile) rs2252996 0.84751
NM_018344.6(SLC29A3):c.1008T>C (p.Gly336=) rs1084004 0.84205
NM_018344.6(SLC29A3):c.473C>T (p.Ser158Phe) rs780668 0.61569
NM_018344.6(SLC29A3):c.52A>G (p.Arg18Gly) rs2277257 0.47837
NM_018344.6(SLC29A3):c.597G>A (p.Gln199=) rs16928737 0.03555
NM_018344.6(SLC29A3):c.842T>C (p.Leu281Pro) rs79737301 0.01835
NM_018344.6(SLC29A3):c.831C>T (p.Pro277=) rs61737431 0.01828
NM_018344.6(SLC29A3):c.304T>C (p.Tyr102His) rs77339410 0.01738
NM_018344.6(SLC29A3):c.1087C>T (p.Arg363Trp) rs387907067 0.00004
NM_018344.6(SLC29A3):c.1228C>T (p.Gln410Ter) rs587780462 0.00001
NM_018344.6(SLC29A3):c.300+1G>A rs587780463 0.00001
NM_018344.6(SLC29A3):c.73C>T (p.Arg25Ter) rs746408350 0.00001

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