ClinVar Miner

Variants in gene SLC19A3 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755 0.00150
NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu) rs149806390 0.00097
NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn) rs145288025 0.00073
NM_025243.4(SLC19A3):c.801A>G (p.Gln267=) rs147205930 0.00067
NM_025243.4(SLC19A3):c.187T>C (p.Tyr63His) rs144817990 0.00059
NM_025243.4(SLC19A3):c.613A>G (p.Arg205Gly) rs199558186 0.00041
NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile) rs780569649 0.00009
NM_025243.4(SLC19A3):c.481T>C (p.Leu161=) rs375099581 0.00007
NM_025243.4(SLC19A3):c.861C>T (p.Phe287=) rs764867524 0.00001
NM_025243.4(SLC19A3):c.*8G>A rs188532608
NM_025243.4(SLC19A3):c.*8G>T rs188532608
NM_025243.4(SLC19A3):c.1204C>T (p.Arg402Cys) rs150523975
NM_025243.4(SLC19A3):c.390G>T (p.Val130=) rs376187918
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=) rs138363524

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