ClinVar Miner

List of variants in gene SLC19A3 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_025243.4(SLC19A3):c.756G>A (p.Leu252=) rs12185721 0.00883
NM_025243.4(SLC19A3):c.309G>A (p.Val103=) rs142837989 0.00618
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444 0.00577
NM_025243.4(SLC19A3):c.-2-3996A>T rs192316285 0.00510
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755 0.00150
NM_025243.4(SLC19A3):c.801A>G (p.Gln267=) rs147205930 0.00067
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.335T>C (p.Phe112Ser) rs200971390 0.00006
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val) rs121917882 0.00002
NM_025243.4(SLC19A3):c.1104T>C (p.Asn368=) rs767338710 0.00001
NM_025243.4(SLC19A3):c.355G>A (p.Ala119Thr) rs367620430 0.00001
NM_025243.4(SLC19A3):c.532G>A (p.Ala178Thr) rs766950682 0.00001
NM_025243.4(SLC19A3):c.*8G>A rs188532608
NM_025243.4(SLC19A3):c.1173-7A>G rs1286201155
NM_025243.4(SLC19A3):c.123A>T (p.Gly41=)
NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala) rs121917884
NM_025243.4(SLC19A3):c.1378A>G (p.Ile460Val) rs1574540571
NM_025243.4(SLC19A3):c.198del (p.Leu67fs)
NM_025243.4(SLC19A3):c.20C>A (p.Ser7Ter) rs713993048
NM_025243.4(SLC19A3):c.223G>A (p.Asp75Asn) rs980641322
NM_025243.4(SLC19A3):c.280T>C (p.Trp94Arg) rs1695586409
NM_025243.4(SLC19A3):c.328G>A (p.Glu110Lys)
NM_025243.4(SLC19A3):c.390G>T (p.Val130=) rs376187918
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=) rs138363524
NM_025243.4(SLC19A3):c.894T>G (p.Tyr298Ter) rs1474448985
NM_025243.4(SLC19A3):c.923C>T (p.Pro308Leu) rs2106328576

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