ClinVar Miner

Variants in gene SLC29A3 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
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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.842T>C (p.Leu281Pro) rs79737301 0.01835
NM_018344.6(SLC29A3):c.618C>T (p.Ala206=) rs141413620 0.00398
NM_018344.6(SLC29A3):c.1001A>G (p.Asn334Ser) rs144665176 0.00255
NM_018344.6(SLC29A3):c.1146C>T (p.Phe382=) rs148092033 0.00239
NM_018344.6(SLC29A3):c.687C>T (p.Ser229=) rs113542201 0.00142
NM_018344.6(SLC29A3):c.640G>A (p.Val214Met) rs200339271 0.00019

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