ClinVar Miner

List of variants in gene SLC19A3 reported as benign for thiamine-responsive dysfunction syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_025243.4(SLC19A3):c.*2109C>T rs7593437 0.99641
NM_025243.4(SLC19A3):c.*1815A>C rs34020562 0.38247
NM_025243.4(SLC19A3):c.1049T>C (p.Val350Ala) rs34507036 0.09001
NM_025243.4(SLC19A3):c.*1090G>A rs78560894 0.08018
NM_025243.4(SLC19A3):c.*1996T>C rs111409314 0.08003
NM_025243.4(SLC19A3):c.*203C>T rs80307329 0.07960
NM_025243.4(SLC19A3):c.*1427T>C rs12105610 0.07956
NM_025243.4(SLC19A3):c.*1000A>G rs111467219 0.07952
NM_025243.4(SLC19A3):c.*1684A>G rs12105737 0.07950
NM_025243.4(SLC19A3):c.*1813A>G rs76100632 0.07950
NM_025243.4(SLC19A3):c.*1839G>A rs74372767 0.07948
NM_025243.4(SLC19A3):c.*1974G>T rs1134282 0.07946
NM_025243.4(SLC19A3):c.*2130T>C rs114055204 0.07935
NM_025243.4(SLC19A3):c.*2132T>C rs115320284 0.07932
NM_025243.4(SLC19A3):c.*1953G>A rs113979210 0.07926
NM_025243.4(SLC19A3):c.*1963C>T rs1134281 0.07914
NM_025243.4(SLC19A3):c.*1740G>C rs12105323 0.07249
NM_025243.4(SLC19A3):c.435C>T (p.Ser145=) rs76517176 0.04500
NM_025243.4(SLC19A3):c.549T>C (p.Ala183=) rs74693100 0.04490
NM_025243.4(SLC19A3):c.-2-10A>G rs6728344 0.03969
NM_025243.4(SLC19A3):c.*2104T>C rs1055957 0.03534
NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile) rs59736804 0.03276
NM_025243.4(SLC19A3):c.*506C>T rs115182620 0.02815
NM_025243.4(SLC19A3):c.*1925A>G rs76014609 0.02668
NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=) rs34080459 0.01664
NM_025243.4(SLC19A3):c.979+19A>G rs112669453 0.01129
NM_025243.4(SLC19A3):c.*103C>A rs116590386 0.00909
NM_025243.4(SLC19A3):c.756G>A (p.Leu252=) rs12185721 0.00883
NM_025243.4(SLC19A3):c.*1792C>T rs181948693 0.00872
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.546G>A (p.Val182=) rs143188189 0.00263
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755 0.00150
NM_025243.4(SLC19A3):c.*1696G>T rs148557151 0.00139
NM_025243.4(SLC19A3):c.*803G>A rs186279191 0.00118
NM_025243.4(SLC19A3):c.*1800C>T rs144735324 0.00062
NM_025243.4(SLC19A3):c.1132A>G (p.Ile378Val) rs117864472 0.00062
NM_025243.4(SLC19A3):c.18T>A (p.Thr6=) rs141093593 0.00055
NM_025243.4(SLC19A3):c.99A>G (p.Pro33=) rs17853011 0.00014
NM_025243.4(SLC19A3):c.522C>A (p.Val174=) rs766224051 0.00006
NM_025243.4(SLC19A3):c.1252C>G (p.Gln418Glu) rs368364131 0.00001
NM_025243.4(SLC19A3):c.*115C>G rs549546166
NM_025243.4(SLC19A3):c.360G>A (p.Glu120=) rs566837952
NM_025243.4(SLC19A3):c.968C>G (p.Ala323Gly)
NM_025243.4(SLC19A3):c.980-4del rs11334205
NM_025243.4(SLC19A3):c.980-5_980-4del

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