ClinVar Miner

List of variants reported as pathogenic for thiamine-responsive dysfunction syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_022445.4(TPK1):c.501+4A>T rs375169579 0.00009
NM_025243.4(SLC19A3):c.980-14A>G rs200542114 0.00008
NM_025243.4(SLC19A3):c.541T>C (p.Ser181Pro) rs773971505 0.00006
NM_022445.4(TPK1):c.426G>C (p.Leu142Phe) rs769525399 0.00004
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His) rs145999922 0.00004
NM_025243.4(SLC19A3):c.854G>A (p.Trp285Ter) rs373198092 0.00003
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_022445.4(TPK1):c.246C>A (p.Tyr82Ter) rs970696642 0.00001
NM_022445.4(TPK1):c.656A>G (p.Asn219Ser) rs371271054 0.00001
NM_025243.4(SLC19A3):c.111del (p.Tyr38fs) rs1559252723 0.00001
NM_025243.4(SLC19A3):c.1172+1G>A rs1219632810 0.00001
NM_025243.4(SLC19A3):c.855G>A (p.Trp285Ter) rs1695551164 0.00001
NC_000002.11:g.(?_228552113)_(228567034_?)del
NC_000002.11:g.(?_228552862)_(228553043_?)del
NC_000002.11:g.(?_228566865)_(228567034_?)del
NC_000002.12:g.(?_227687377)_(227702338_?)del
NC_000007.13:g.(?_144094333)_(144532695_?)del
NC_000007.13:g.(?_144150618)_(144532715_?)del
NC_000007.13:g.(?_144245564)_(144463064_?)del
NC_000007.13:g.(?_144245564)_(144532715_?)del
NC_000007.13:g.(?_144288496)_(144320374_?)del
NC_000007.13:g.(?_144288496)_(144345992_?)del
NC_000007.13:g.(?_144462953)_(144532695_?)del
NC_000007.13:g.(?_144532633)_(144532695_?)del
NC_000007.14:g.(?_144591403)_(144835622_?)del
NC_000007.14:g.(?_144623146)_(144682998_?)del
NC_000007.14:g.(?_144682889)_(144682998_?)del
NC_000007.14:g.(?_144682889)_(144765971_?)del
NM_022445.4(TPK1):c.191dup (p.Leu64fs)
NM_022445.4(TPK1):c.243del (p.Glu81fs) rs2150697552
NM_022445.4(TPK1):c.405del (p.Met136fs) rs2069999514
NM_022445.4(TPK1):c.44-2A>G rs863224237
NM_022445.4(TPK1):c.565G>T (p.Gly189Ter)
NM_022445.4(TPK1):c.613+1G>C rs760398697
NM_025243.4(SLC19A3):c.1079dup (p.Leu360fs) rs1559247315
NM_025243.4(SLC19A3):c.1164del (p.Thr388_Ile389insTer) rs2106325859
NM_025243.4(SLC19A3):c.1212dup (p.Val406fs)
NM_025243.4(SLC19A3):c.1257del (p.Ile420fs) rs2106318158
NM_025243.4(SLC19A3):c.125dup (p.Asp43fs)
NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala) rs121917884
NM_025243.4(SLC19A3):c.129dup (p.Lys44Ter)
NM_025243.4(SLC19A3):c.12C>G (p.Tyr4Ter)
NM_025243.4(SLC19A3):c.160G>T (p.Glu54Ter)
NM_025243.4(SLC19A3):c.171del (p.Val58fs) rs2106329702
NM_025243.4(SLC19A3):c.177G>A (p.Trp59Ter)
NM_025243.4(SLC19A3):c.189C>A (p.Tyr63Ter) rs1559250774
NM_025243.4(SLC19A3):c.36G>A (p.Trp12Ter) rs778816786
NM_025243.4(SLC19A3):c.384C>G (p.Tyr128Ter) rs746490830
NM_025243.4(SLC19A3):c.426del (p.Cys143fs) rs2106329218
NM_025243.4(SLC19A3):c.475C>T (p.Gln159Ter)
NM_025243.4(SLC19A3):c.507C>G (p.Tyr169Ter)
NM_025243.4(SLC19A3):c.513C>A (p.Tyr171Ter)
NM_025243.4(SLC19A3):c.597del (p.His200fs)
NM_025243.4(SLC19A3):c.597dup (p.His200fs) rs773140674
NM_025243.4(SLC19A3):c.623_626del (p.Lys208fs)
NM_025243.4(SLC19A3):c.701del (p.Thr234fs)
NM_025243.4(SLC19A3):c.74dup (p.Ser26fs) rs786205213
NM_025243.4(SLC19A3):c.776_777del (p.Val259fs) rs2106328737
NM_025243.4(SLC19A3):c.795G>A (p.Trp265Ter)
NM_025243.4(SLC19A3):c.816C>A (p.Cys272Ter)
NM_025243.4(SLC19A3):c.856del (p.Ala286fs)
NM_025243.4(SLC19A3):c.885_888dup (p.Asn297fs)

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