ClinVar Miner

List of variants in gene TTPA reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1167):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 70
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000370.3(TTPA):c.*578T>C rs886063065 0.00730
NM_000370.3(TTPA):c.*776C>T rs886063063 0.00067
NM_000370.3(TTPA):c.178G>A (p.Asp60Asn) rs199636231 0.00046
NM_000370.3(TTPA):c.452G>A (p.Arg151Gln) rs150710403 0.00040
NM_000370.3(TTPA):c.*806C>T rs752352118 0.00035
NM_000370.3(TTPA):c.*161A>G rs183885151 0.00034
NM_000370.3(TTPA):c.*326T>A rs529634119 0.00024
NM_000370.3(TTPA):c.*1365A>C rs181348477 0.00023
NM_000370.3(TTPA):c.*364A>T rs559345463 0.00019
NM_000370.3(TTPA):c.204+6C>T rs574780098 0.00018
NM_000370.3(TTPA):c.760G>T (p.Asp254Tyr) rs374606907 0.00018
NM_000370.3(TTPA):c.*554C>T rs576595274 0.00017
NM_000370.3(TTPA):c.*735T>C rs886063064 0.00016
NM_000370.3(TTPA):c.*1422T>G rs913423928 0.00012
NM_000370.3(TTPA):c.635C>A (p.Pro212Gln) rs141163645 0.00012
NM_000370.3(TTPA):c.*1368C>G rs553853197 0.00010
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236 0.00008
NM_000370.3(TTPA):c.*934C>T rs776683493 0.00006
NM_000370.3(TTPA):c.355A>G (p.Ile119Val) rs766200402 0.00006
NM_000370.3(TTPA):c.75G>C (p.Gln25His) rs751638180 0.00006
NM_000370.3(TTPA):c.*1716T>C rs1029598636 0.00005
NM_000370.3(TTPA):c.*1486C>T rs535310725 0.00004
NM_000370.3(TTPA):c.352A>G (p.Arg118Gly) rs751549880 0.00004
NM_000370.3(TTPA):c.616G>A (p.Val206Ile) rs554118281 0.00004
NM_000370.3(TTPA):c.*239C>T rs761554482 0.00003
NM_000370.3(TTPA):c.-18G>A rs764083716 0.00003
NM_000370.3(TTPA):c.221A>G (p.Tyr74Cys) rs368131865 0.00003
NM_000370.3(TTPA):c.338A>G (p.Lys113Arg) rs200547556 0.00003
NM_000370.3(TTPA):c.*1407G>A rs1805273393 0.00002
NM_000370.3(TTPA):c.*286C>G rs886063068 0.00002
NM_000370.3(TTPA):c.202C>A (p.Arg68=) rs973874631 0.00002
NM_000370.3(TTPA):c.522C>T (p.Ser174=) rs772020906 0.00002
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) rs35916840 0.00002
NM_000370.3(TTPA):c.*1441C>G rs553317836 0.00001
NM_000370.3(TTPA):c.*292A>G rs886063067 0.00001
NM_000370.3(TTPA):c.*769G>A rs775461769 0.00001
NM_000370.3(TTPA):c.117C>T (p.Gly39=) rs750576019 0.00001
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp) rs397515522 0.00001
NM_000370.3(TTPA):c.272G>C (p.Ser91Thr) rs186021365 0.00001
NM_000370.3(TTPA):c.358+15A>G rs371592549 0.00001
NM_000370.3(TTPA):c.401G>A (p.Arg134Gln) rs748038814 0.00001
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys) rs397515524 0.00001
NM_000370.3(TTPA):c.558A>G (p.Ser186=) rs774283073 0.00001
NM_000370.3(TTPA):c.663+10A>G rs374903020 0.00001
NM_000370.3(TTPA):c.752C>T (p.Ser251Phe) rs756313678 0.00001
NM_000370.3(TTPA):c.*1135T>C rs886063062
NM_000370.3(TTPA):c.*1164A>T rs886063061
NM_000370.3(TTPA):c.*1176ATA[1] rs548084272
NM_000370.3(TTPA):c.*1247A>G rs1277245038
NM_000370.3(TTPA):c.*1394A>G rs886063060
NM_000370.3(TTPA):c.*1424C>T rs577649057
NM_000370.3(TTPA):c.*1469ATAA[3] rs773557348
NM_000370.3(TTPA):c.*1598C>T rs886063059
NM_000370.3(TTPA):c.*265T>C rs1805296752
NM_000370.3(TTPA):c.*452T>C rs886063066
NM_000370.3(TTPA):c.*496T>G rs565583075
NM_000370.3(TTPA):c.*595C>G rs760669854
NM_000370.3(TTPA):c.*817G>A rs975457415
NM_000370.3(TTPA):c.-1C>T rs1349901379
NM_000370.3(TTPA):c.123G>A (p.Pro41=) rs1368032681
NM_000370.3(TTPA):c.131C>T (p.Pro44Leu) rs928983374
NM_000370.3(TTPA):c.143C>T (p.Thr48Ile) rs2129795826
NM_000370.3(TTPA):c.144C>G (p.Thr48=) rs1805743504
NM_000370.3(TTPA):c.166C>T (p.Leu56=) rs1482746572
NM_000370.3(TTPA):c.177G>C (p.Arg59=) rs1805742361
NM_000370.3(TTPA):c.254_259dup (p.Asp86_Leu87insProAsp) rs1554524054
NM_000370.3(TTPA):c.36G>T (p.Pro12=) rs773911591
NM_000370.3(TTPA):c.552G>T (p.Thr184=) rs181109321
NM_000370.3(TTPA):c.807T>A (p.Tyr269Ter) rs1554605276
NM_000370.3(TTPA):c.815G>T (p.Ser272Ile) rs1233515069

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.