ClinVar Miner

List of variants in gene SLC19A3 studied for Thiamine Metabolism Dysfunction Syndrome

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_025243.3(SLC19A3):c.-90C>T rs4972919 0.61232
NM_025243.4(SLC19A3):c.*1815A>C rs34020562 0.38247
NM_025243.4(SLC19A3):c.*1813A>G rs76100632 0.07950
NM_025243.4(SLC19A3):c.*2130_*2132delinsCGC rs386655913
NM_025243.4(SLC19A3):c.*591ATT[2] rs539344508
NM_025243.4(SLC19A3):c.*977del rs569329913
NM_025243.4(SLC19A3):c.980-4del rs11334205

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