ClinVar Miner

List of variants studied for childhood encephalopathy due to thiamine pyrophosphokinase deficiency by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 224
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HGVS dbSNP gnomAD frequency
NM_022445.4(TPK1):c.98G>A (p.Arg33His) rs77358162 0.00512
NM_022445.4(TPK1):c.663C>T (p.Tyr221=) rs113536847 0.00234
NM_022445.4(TPK1):c.231T>A (p.Pro77=) rs142178442 0.00040
NM_022445.4(TPK1):c.355-4T>G rs568693004 0.00019
NM_022445.4(TPK1):c.185+17T>A rs375699989 0.00013
NM_022445.4(TPK1):c.186-19T>C rs555548371 0.00011
NM_022445.4(TPK1):c.152G>A (p.Arg51His) rs202038293 0.00010
NM_022445.4(TPK1):c.491T>C (p.Leu164Pro) rs374946048 0.00010
NM_022445.4(TPK1):c.366C>T (p.Ile122=) rs863224236 0.00009
NM_022445.4(TPK1):c.501+4A>T rs375169579 0.00009
NM_022445.4(TPK1):c.392G>A (p.Arg131His) rs147602742 0.00006
NM_022445.4(TPK1):c.664G>A (p.Asp222Asn) rs368458768 0.00006
NM_022445.4(TPK1):c.135C>T (p.Ala45=) rs767900232 0.00005
NM_022445.4(TPK1):c.121T>C (p.Leu41=) rs199780530 0.00004
NM_022445.4(TPK1):c.164T>C (p.Ile55Thr) rs373745325 0.00004
NM_022445.4(TPK1):c.230C>T (p.Pro77Leu) rs145863885 0.00004
NM_022445.4(TPK1):c.259-3T>C rs763105827 0.00004
NM_022445.4(TPK1):c.355-15A>G rs373553264 0.00004
NM_022445.4(TPK1):c.426G>C (p.Leu142Phe) rs769525399 0.00004
NM_022445.4(TPK1):c.480G>A (p.Ser160=) rs753088448 0.00004
NM_022445.4(TPK1):c.10G>A (p.Ala4Thr) rs766958215 0.00003
NM_022445.4(TPK1):c.127G>A (p.Ala43Thr) rs756505847 0.00003
NM_022445.4(TPK1):c.169G>A (p.Glu57Lys) rs200717734 0.00003
NM_022445.4(TPK1):c.365T>C (p.Ile122Thr) rs547285921 0.00003
NM_022445.4(TPK1):c.371C>T (p.Thr124Ile) rs754068899 0.00003
NM_022445.4(TPK1):c.501+14G>A rs199657217 0.00003
NM_022445.4(TPK1):c.677T>A (p.Val226Asp) rs550639617 0.00003
NM_022445.4(TPK1):c.116-8A>G rs1325550879 0.00002
NM_022445.4(TPK1):c.136G>A (p.Asp46Asn) rs551699564 0.00002
NM_022445.4(TPK1):c.138T>C (p.Asp46=) rs138773679 0.00002
NM_022445.4(TPK1):c.168C>T (p.Thr56=) rs370527936 0.00002
NM_022445.4(TPK1):c.185+1G>A rs747753388 0.00002
NM_022445.4(TPK1):c.434C>T (p.Ala145Val) rs576168961 0.00002
NM_022445.4(TPK1):c.435G>A (p.Ala145=) rs770545870 0.00002
NM_022445.4(TPK1):c.49T>A (p.Leu17Met) rs1164108275 0.00002
NM_022445.4(TPK1):c.535G>C (p.Glu179Gln) rs767663147 0.00002
NM_022445.4(TPK1):c.669G>A (p.Gly223=) rs113056357 0.00002
NM_022445.4(TPK1):c.119T>C (p.Leu40Pro) rs387906936 0.00001
NM_022445.4(TPK1):c.13T>C (p.Phe5Leu) rs1360207392 0.00001
NM_022445.4(TPK1):c.174A>T (p.Gly58=) rs1049396049 0.00001
NM_022445.4(TPK1):c.206A>G (p.Asn69Ser) rs773722179 0.00001
NM_022445.4(TPK1):c.246C>A (p.Tyr82Ter) rs970696642 0.00001
NM_022445.4(TPK1):c.258+7T>A rs1262543623 0.00001
NM_022445.4(TPK1):c.270C>T (p.Leu90=) rs973031491 0.00001
NM_022445.4(TPK1):c.305C>G (p.Thr102Ser) rs778868865 0.00001
NM_022445.4(TPK1):c.335T>C (p.Ile112Thr) rs1588880738 0.00001
NM_022445.4(TPK1):c.351A>G (p.Leu117=) rs1445682011 0.00001
NM_022445.4(TPK1):c.354+9T>C rs755706653 0.00001
NM_022445.4(TPK1):c.40A>G (p.Thr14Ala) rs1425413327 0.00001
NM_022445.4(TPK1):c.414T>C (p.Ser138=) rs1476551905 0.00001
NM_022445.4(TPK1):c.43+6G>T rs1167506497 0.00001
NM_022445.4(TPK1):c.44-4C>T rs760967598 0.00001
NM_022445.4(TPK1):c.479C>T (p.Ser160Leu) rs758949475 0.00001
NM_022445.4(TPK1):c.482T>A (p.Leu161Gln) rs755359509 0.00001
NM_022445.4(TPK1):c.53A>G (p.Lys18Arg) rs769583875 0.00001
NM_022445.4(TPK1):c.546G>C (p.Trp182Cys) rs751636131 0.00001
NM_022445.4(TPK1):c.559C>T (p.Pro187Ser) rs1441218983 0.00001
NM_022445.4(TPK1):c.566G>A (p.Gly189Glu) rs2063720083 0.00001
NM_022445.4(TPK1):c.614-18T>C rs775127014 0.00001
NM_022445.4(TPK1):c.614-19T>C rs779514047 0.00001
NM_022445.4(TPK1):c.621T>C (p.Asp207=) rs778011281 0.00001
NM_022445.4(TPK1):c.624G>A (p.Val208=) rs548115884 0.00001
NM_022445.4(TPK1):c.642G>A (p.Leu214=) rs779048294 0.00001
NM_022445.4(TPK1):c.656A>G (p.Asn219Ser) rs371271054 0.00001
NM_022445.4(TPK1):c.666C>T (p.Asp222=) rs763896351 0.00001
NM_022445.4(TPK1):c.706C>G (p.Leu236Val) rs1431932282 0.00001
NM_022445.4(TPK1):c.92A>C (p.Tyr31Ser) rs531486319 0.00001
NM_022445.4(TPK1):c.97C>T (p.Arg33Cys) rs368467309 0.00001
NC_000007.13:g.(?_144094333)_(144150776_?)dup
NC_000007.13:g.(?_144094333)_(144463064_?)dup
NC_000007.13:g.(?_144094333)_(144532695_?)del
NC_000007.13:g.(?_144150618)_(144532715_?)del
NC_000007.13:g.(?_144150638)_(144150776_?)del
NC_000007.13:g.(?_144150638)_(144532695_?)dup
NC_000007.13:g.(?_144245564)_(144245715_?)del
NC_000007.13:g.(?_144245564)_(144380091_?)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.(?_144320239)_(144320374_?)del
NC_000007.13:g.(?_144320239)_(144463064_?)dup
NC_000007.13:g.(?_144462953)_(144463064_?)dup
NC_000007.13:g.(?_144462953)_(144532695_?)dup
NC_000007.13:g.(?_144532633)_(144532695_?)del
NC_000007.13:g.(?_144532633)_(144532695_?)dup
NC_000007.14:g.(?_144453525)_(144453683_?)del
NC_000007.14:g.(?_144453525)_(144453683_?)dup
NC_000007.14:g.(?_144453525)_(144548622_?)dup
NC_000007.14:g.(?_144453525)_(144835622_?)dup
NC_000007.14:g.(?_144591403)_(144591589_?)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
NC_000007.14:g.(?_144765860)_(144765971_?)del
NM_022445.4(TPK1):c.10G>T (p.Ala4Ser) rs766958215
NM_022445.4(TPK1):c.115+15C>A
NM_022445.4(TPK1):c.115+15C>T
NM_022445.4(TPK1):c.115+1G>T
NM_022445.4(TPK1):c.116-11del rs1325846920
NM_022445.4(TPK1):c.116-2A>G rs2151035560
NM_022445.4(TPK1):c.123A>G (p.Leu41=)
NM_022445.4(TPK1):c.137A>T (p.Asp46Val)
NM_022445.4(TPK1):c.151C>T (p.Arg51Cys) rs761924102
NM_022445.4(TPK1):c.152G>T (p.Arg51Leu)
NM_022445.4(TPK1):c.154T>C (p.Leu52=) rs759534507
NM_022445.4(TPK1):c.157T>C (p.Tyr53His)
NM_022445.4(TPK1):c.160_162del (p.Asp54del) rs2082412299
NM_022445.4(TPK1):c.164T>A (p.Ile55Asn) rs373745325
NM_022445.4(TPK1):c.177G>A (p.Glu59=)
NM_022445.4(TPK1):c.17C>T (p.Thr6Ile) rs1796682677
NM_022445.4(TPK1):c.180A>G (p.Arg60=)
NM_022445.4(TPK1):c.185+12T>A
NM_022445.4(TPK1):c.185+20A>G
NM_022445.4(TPK1):c.186-17C>T
NM_022445.4(TPK1):c.186-19del rs764189440
NM_022445.4(TPK1):c.186-7C>T
NM_022445.4(TPK1):c.191dup (p.Leu64fs)
NM_022445.4(TPK1):c.202A>G (p.Ile68Val) rs2078415890
NM_022445.4(TPK1):c.223A>G (p.Ile75Val) rs960990842
NM_022445.4(TPK1):c.22T>A (p.Leu8Met) rs763434100
NM_022445.4(TPK1):c.22T>C (p.Leu8=)
NM_022445.4(TPK1):c.231T>G (p.Pro77=)
NM_022445.4(TPK1):c.239G>A (p.Arg80Lys) rs749455380
NM_022445.4(TPK1):c.243del (p.Glu81fs) rs2150697552
NM_022445.4(TPK1):c.246C>T (p.Tyr82=) rs970696642
NM_022445.4(TPK1):c.250G>A (p.Ala84Thr)
NM_022445.4(TPK1):c.258+12del
NM_022445.4(TPK1):c.258+14A>T rs2150697042
NM_022445.4(TPK1):c.258+15T>C
NM_022445.4(TPK1):c.258+20T>C
NM_022445.4(TPK1):c.259-14A>T
NM_022445.4(TPK1):c.259-16T>A rs2151157042
NM_022445.4(TPK1):c.259-20dup rs771212575
NM_022445.4(TPK1):c.259G>A (p.Gly87Arg) rs1174570973
NM_022445.4(TPK1):c.263G>A (p.Cys88Tyr)
NM_022445.4(TPK1):c.277A>C (p.Thr93Pro)
NM_022445.4(TPK1):c.293A>C (p.His98Pro)
NM_022445.4(TPK1):c.303T>C (p.Phe101=)
NM_022445.4(TPK1):c.30C>G (p.Pro10=) rs775787586
NM_022445.4(TPK1):c.334A>G (p.Ile112Val) rs2151156040
NM_022445.4(TPK1):c.337G>A (p.Glu113Lys) rs1563779902
NM_022445.4(TPK1):c.33G>A (p.Leu11=)
NM_022445.4(TPK1):c.354+12A>G
NM_022445.4(TPK1):c.354+20G>A
NM_022445.4(TPK1):c.354+8A>G
NM_022445.4(TPK1):c.354+9T>G
NM_022445.4(TPK1):c.354G>C (p.Lys118Asn) rs1045769598
NM_022445.4(TPK1):c.355-20G>C
NM_022445.4(TPK1):c.355-4T>C rs568693004
NM_022445.4(TPK1):c.355-7T>C rs2070013499
NM_022445.4(TPK1):c.385G>A (p.Ala129Thr) rs2150829067
NM_022445.4(TPK1):c.394T>C (p.Phe132Leu) rs2150828894
NM_022445.4(TPK1):c.405del (p.Met136fs) rs2069999514
NM_022445.4(TPK1):c.425T>C (p.Leu142Ser) rs1265314976
NM_022445.4(TPK1):c.428T>A (p.Phe143Tyr)
NM_022445.4(TPK1):c.43+12C>A
NM_022445.4(TPK1):c.43+15T>C
NM_022445.4(TPK1):c.43+20G>A
NM_022445.4(TPK1):c.435G>T (p.Ala145=) rs770545870
NM_022445.4(TPK1):c.44-12_44-5del
NM_022445.4(TPK1):c.44-2A>G rs863224237
NM_022445.4(TPK1):c.44-3T>C rs2092460944
NM_022445.4(TPK1):c.44-9T>C rs776830969
NM_022445.4(TPK1):c.441C>A (p.His147Gln)
NM_022445.4(TPK1):c.442A>G (p.Ile148Val) rs1325977316
NM_022445.4(TPK1):c.463A>G (p.Ile155Val) rs2150827870
NM_022445.4(TPK1):c.465A>C (p.Ile155=) rs1273766700
NM_022445.4(TPK1):c.484A>T (p.Ile162Phe) rs2150827494
NM_022445.4(TPK1):c.486C>T (p.Ile162=) rs899357375
NM_022445.4(TPK1):c.489C>T (p.Tyr163=) rs1554562296
NM_022445.4(TPK1):c.501+12G>A
NM_022445.4(TPK1):c.501+16A>C
NM_022445.4(TPK1):c.501+1G>T rs2150827249
NM_022445.4(TPK1):c.501+5G>A rs2150827132
NM_022445.4(TPK1):c.501+7C>A
NM_022445.4(TPK1):c.501+9A>C
NM_022445.4(TPK1):c.502-3C>T rs2129165008
NM_022445.4(TPK1):c.502-9C>A rs2129165021
NM_022445.4(TPK1):c.507G>A (p.Lys169=)
NM_022445.4(TPK1):c.512G>C (p.Arg171Thr) rs2063726493
NM_022445.4(TPK1):c.518A>C (p.His173Pro) rs1285011402
NM_022445.4(TPK1):c.530G>T (p.Gly177Val) rs1588141821
NM_022445.4(TPK1):c.532A>T (p.Met178Leu) rs2063724454
NM_022445.4(TPK1):c.538G>A (p.Gly180Ser)
NM_022445.4(TPK1):c.552C>G (p.Gly184=)
NM_022445.4(TPK1):c.555T>C (p.Leu185=) rs2063721111
NM_022445.4(TPK1):c.562G>C (p.Val188Leu) rs1385750838
NM_022445.4(TPK1):c.562G>T (p.Val188Phe)
NM_022445.4(TPK1):c.564T>C (p.Val188=)
NM_022445.4(TPK1):c.565G>T (p.Gly189Ter)
NM_022445.4(TPK1):c.56A>G (p.Tyr19Cys) rs745721039
NM_022445.4(TPK1):c.575G>A (p.Cys192Tyr)
NM_022445.4(TPK1):c.613+1G>C rs760398697
NM_022445.4(TPK1):c.614-11T>C
NM_022445.4(TPK1):c.614-13del rs539336947
NM_022445.4(TPK1):c.614-15C>A
NM_022445.4(TPK1):c.614C>T (p.Thr205Ile)
NM_022445.4(TPK1):c.61C>T (p.Leu21Phe)
NM_022445.4(TPK1):c.624G>C (p.Val208=)
NM_022445.4(TPK1):c.639A>G (p.Thr213=) rs1348005063
NM_022445.4(TPK1):c.645C>T (p.Val215=)
NM_022445.4(TPK1):c.657T>C (p.Asn219=)
NM_022445.4(TPK1):c.662A>G (p.Tyr221Cys) rs750322523
NM_022445.4(TPK1):c.662ACG[3] (p.Asp222dup) rs2054442370
NM_022445.4(TPK1):c.667G>A (p.Gly223Arg) rs568804217
NM_022445.4(TPK1):c.669G>C (p.Gly223=) rs113056357
NM_022445.4(TPK1):c.66A>C (p.Val22=)
NM_022445.4(TPK1):c.676G>A (p.Val226Ile) rs2128872988
NM_022445.4(TPK1):c.687G>A (p.Val229=) rs2054437657
NM_022445.4(TPK1):c.700C>T (p.Pro234Ser) rs748307256
NM_022445.4(TPK1):c.701C>A (p.Pro234Gln) rs749295013
NM_022445.4(TPK1):c.704T>C (p.Leu235Pro) rs2054434904
NM_022445.4(TPK1):c.715A>G (p.Met239Val)
NM_022445.4(TPK1):c.72T>C (p.Leu24=)
NM_022445.4(TPK1):c.74A>G (p.Asn25Ser) rs2092459668
NM_022445.4(TPK1):c.79C>T (p.Pro27Ser)
NM_022445.4(TPK1):c.84G>A (p.Leu28=)
NM_022445.4(TPK1):c.86A>G (p.Asp29Gly) rs2092459385
NM_022445.4(TPK1):c.87C>T (p.Asp29=) rs1312832296
NM_022445.4(TPK1):c.92A>G (p.Tyr31Cys) rs531486319
NM_022445.4(TPK1):c.98G>C (p.Arg33Pro)
NM_022445.4(TPK1):c.9T>C (p.His3=)

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