ClinVar Miner

List of variants in gene SLC19A3 reported as likely pathogenic for not provided

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His) rs145999922 0.00004
NM_025243.4(SLC19A3):c.1172+1G>A rs1219632810 0.00001
NM_025243.4(SLC19A3):c.1252C>G (p.Gln418Glu) rs368364131 0.00001
NM_025243.4(SLC19A3):c.1228A>C (p.Asn410His) rs1085307963
NM_025243.4(SLC19A3):c.1253A>G (p.Gln418Arg) rs1064795112
NM_025243.4(SLC19A3):c.148G>T (p.Glu50Ter) rs1131691902
NM_025243.4(SLC19A3):c.223G>A (p.Asp75Asn) rs980641322
NM_025243.4(SLC19A3):c.503_505del (p.Ser168del) rs763130915
NM_025243.4(SLC19A3):c.597dup (p.His200fs) rs773140674

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