ClinVar Miner

List of variants reported as likely benign 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: 88
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HGVS dbSNP gnomAD frequency
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.366C>T (p.Ile122=) rs863224236 0.00009
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.355-15A>G rs373553264 0.00004
NM_022445.4(TPK1):c.480G>A (p.Ser160=) rs753088448 0.00004
NM_022445.4(TPK1):c.501+14G>A rs199657217 0.00003
NM_022445.4(TPK1):c.116-8A>G rs1325550879 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.435G>A (p.Ala145=) rs770545870 0.00002
NM_022445.4(TPK1):c.669G>A (p.Gly223=) rs113056357 0.00002
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.351A>G (p.Leu117=) rs1445682011 0.00001
NM_022445.4(TPK1):c.354+9T>C rs755706653 0.00001
NM_022445.4(TPK1):c.414T>C (p.Ser138=) rs1476551905 0.00001
NM_022445.4(TPK1):c.44-4C>T rs760967598 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.666C>T (p.Asp222=) rs763896351 0.00001
NM_022445.4(TPK1):c.115+15C>A
NM_022445.4(TPK1):c.115+15C>T
NM_022445.4(TPK1):c.116-11del rs1325846920
NM_022445.4(TPK1):c.123A>G (p.Leu41=)
NM_022445.4(TPK1):c.154T>C (p.Leu52=) rs759534507
NM_022445.4(TPK1):c.177G>A (p.Glu59=)
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.22T>C (p.Leu8=)
NM_022445.4(TPK1):c.231T>G (p.Pro77=)
NM_022445.4(TPK1):c.246C>T (p.Tyr82=) rs970696642
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.303T>C (p.Phe101=)
NM_022445.4(TPK1):c.30C>G (p.Pro10=) rs775787586
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.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.43+12C>A
NM_022445.4(TPK1):c.43+15T>C
NM_022445.4(TPK1):c.435G>T (p.Ala145=) rs770545870
NM_022445.4(TPK1):c.44-12_44-5del
NM_022445.4(TPK1):c.44-9T>C rs776830969
NM_022445.4(TPK1):c.465A>C (p.Ile155=) rs1273766700
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+7C>A
NM_022445.4(TPK1):c.501+9A>C
NM_022445.4(TPK1):c.502-9C>A rs2129165021
NM_022445.4(TPK1):c.507G>A (p.Lys169=)
NM_022445.4(TPK1):c.552C>G (p.Gly184=)
NM_022445.4(TPK1):c.555T>C (p.Leu185=) rs2063721111
NM_022445.4(TPK1):c.564T>C (p.Val188=)
NM_022445.4(TPK1):c.614-11T>C
NM_022445.4(TPK1):c.614-15C>A
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.669G>C (p.Gly223=) rs113056357
NM_022445.4(TPK1):c.66A>C (p.Val22=)
NM_022445.4(TPK1):c.687G>A (p.Val229=) rs2054437657
NM_022445.4(TPK1):c.72T>C (p.Leu24=)
NM_022445.4(TPK1):c.84G>A (p.Leu28=)
NM_022445.4(TPK1):c.87C>T (p.Asp29=) rs1312832296
NM_022445.4(TPK1):c.9T>C (p.His3=)

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