ClinVar Miner

Variants in gene SLC3A1 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met) rs140317484 0.00287
NM_000341.4(SLC3A1):c.788G>C (p.Ser263Thr) rs139310305 0.00076
NM_000341.4(SLC3A1):c.1126G>A (p.Gly376Ser) rs143068960 0.00073
NM_000341.4(SLC3A1):c.1473C>T (p.Ala491=) rs144065614 0.00026
NM_000341.4(SLC3A1):c.417C>T (p.Asn139=) rs150870922 0.00012
NM_000341.4(SLC3A1):c.1137-3T>C rs555017366 0.00005
NM_000341.4(SLC3A1):c.1125C>T (p.Pro375=) rs760943092 0.00004
NM_000341.4(SLC3A1):c.1269C>T (p.Ser423=) rs557669708 0.00001
NM_000341.4(SLC3A1):c.1200A>G (p.Pro400=) rs886056069

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