ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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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.68G>T (p.Gly23Val) rs121917882 0.00002
NM_025243.4(SLC19A3):c.81_82dup (p.Met28fs) rs775835429 0.00002
NM_025243.4(SLC19A3):c.111del (p.Tyr38fs) rs1559252723 0.00001
NM_025243.4(SLC19A3):c.1314+1G>A rs141957107 0.00001
NC_000002.11:g.(228560798_228563451)_228563704del
NM_025243.4(SLC19A3):c.1079dup (p.Leu360fs) rs1559247315
NM_025243.4(SLC19A3):c.1173-1G>A
NM_025243.4(SLC19A3):c.1264A>C (p.Thr422Pro)
NM_025243.4(SLC19A3):c.1385dup (p.Tyr462Ter)
NM_025243.4(SLC19A3):c.1403del (p.Lys468fs)
NM_025243.4(SLC19A3):c.150+2T>C rs780157041
NM_025243.4(SLC19A3):c.151-1G>C
NM_025243.4(SLC19A3):c.151-2A>G
NM_025243.4(SLC19A3):c.157A>G (p.Asn53Asp)
NM_025243.4(SLC19A3):c.1A>C (p.Met1Leu)
NM_025243.4(SLC19A3):c.265A>C (p.Ser89Arg) rs759807393
NM_025243.4(SLC19A3):c.280T>C (p.Trp94Arg) rs1695586409
NM_025243.4(SLC19A3):c.35G>A (p.Trp12Ter)
NM_025243.4(SLC19A3):c.36G>A (p.Trp12Ter) rs778816786
NM_025243.4(SLC19A3):c.416T>A (p.Val139Glu) rs1574560025
NM_025243.4(SLC19A3):c.482_483del (p.Leu161fs) rs1271884981
NM_025243.4(SLC19A3):c.503_505del (p.Ser168del) rs763130915
NM_025243.4(SLC19A3):c.548C>T (p.Ala183Val) rs199970847
NM_025243.4(SLC19A3):c.623_626del (p.Lys208fs)
NM_025243.4(SLC19A3):c.67G>C (p.Gly23Arg)
NM_025243.4(SLC19A3):c.905T>C (p.Leu302Pro) rs1695547539
NM_025243.4(SLC19A3):c.950G>A (p.Gly317Glu)

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