ClinVar Miner

List of variants in gene TTPA studied for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 133
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HGVS dbSNP gnomAD frequency
NM_000370.3(TTPA):c.663+11T>C rs4501570 0.59337
NM_000370.3(TTPA):c.*1093G>A rs4587328 0.59276
NM_000370.3(TTPA):c.*1487G>A rs6472068 0.51778
NM_000370.3(TTPA):c.*1404G>A rs56675911 0.01322
NM_000370.3(TTPA):c.*578T>C rs886063065 0.00730
NM_000370.3(TTPA):c.*782C>T rs114278576 0.00716
NM_000370.3(TTPA):c.664-4T>G rs2045224 0.00304
NM_000370.3(TTPA):c.48G>A (p.Ala16=) rs562202164 0.00239
NM_000370.3(TTPA):c.24C>G (p.Pro8=) rs140010311 0.00172
NM_000370.3(TTPA):c.147C>T (p.Asp49=) rs199805621 0.00160
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.513_514insTT (p.Thr172fs) rs397515379 0.00010
NM_000370.3(TTPA):c.575G>A (p.Arg192His) rs121917850 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.400C>T (p.Arg134Ter) rs121917851 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.205-2A>G rs758349851 0.00002
NM_000370.3(TTPA):c.2T>C (p.Met1Thr) rs786204758 0.00002
NM_000370.3(TTPA):c.522C>T (p.Ser174=) rs772020906 0.00002
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 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.205-1G>C rs886040963 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.381T>C (p.Phe127=) rs768075601 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.471C>A (p.Ile157=) rs572263038 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.*576_*578del rs10543235
NM_000370.3(TTPA):c.*595C>G rs760669854
NM_000370.3(TTPA):c.*817G>A rs975457415
NM_000370.3(TTPA):c.*932G>A rs547975805
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.13C>T (p.Arg5Ter) rs1008240677
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.148delinsATG (p.Ser50fs)
NM_000370.3(TTPA):c.166C>T (p.Leu56=) rs1482746572
NM_000370.3(TTPA):c.172G>C (p.Ala58Pro) rs982650476
NM_000370.3(TTPA):c.173C>A (p.Ala58Asp) rs1805742556
NM_000370.3(TTPA):c.177G>C (p.Arg59=) rs1805742361
NM_000370.3(TTPA):c.182del (p.Phe61fs) rs1805742175
NM_000370.3(TTPA):c.191A>G (p.Asp64Gly) rs397515523
NM_000370.3(TTPA):c.19C>T (p.Gln7Ter) rs1351036862
NM_000370.3(TTPA):c.19del (p.Gln7fs) rs760014795
NM_000370.3(TTPA):c.1A>T (p.Met1Leu) rs1408863841
NM_000370.3(TTPA):c.204+1G>T
NM_000370.3(TTPA):c.205-1G>T rs886040963
NM_000370.3(TTPA):c.214_215delinsC (p.Asn72fs)
NM_000370.3(TTPA):c.218_219dup (p.Tyr74fs) rs766675875
NM_000370.3(TTPA):c.223A>T (p.Lys75Ter)
NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer) rs1554524061
NM_000370.3(TTPA):c.254_259dup (p.Asp86_Leu87insProAsp) rs1554524054
NM_000370.3(TTPA):c.2T>A (p.Met1Lys) rs786204758
NM_000370.3(TTPA):c.302_309del (p.His101fs)
NM_000370.3(TTPA):c.303T>G (p.His101Gln) rs121917849
NM_000370.3(TTPA):c.313A>T (p.Arg105Ter) rs1057516423
NM_000370.3(TTPA):c.339del (p.Val114fs) rs1563363293
NM_000370.3(TTPA):c.358+2T>C
NM_000370.3(TTPA):c.358+2T>G
NM_000370.3(TTPA):c.359-3del rs398123340
NM_000370.3(TTPA):c.36G>T (p.Pro12=) rs773911591
NM_000370.3(TTPA):c.381dup (p.Thr128fs)
NM_000370.3(TTPA):c.438_439delinsCGATCACAGATGTGTA (p.Glu146fs)
NM_000370.3(TTPA):c.441del (p.Glu148fs) rs1057517448
NM_000370.3(TTPA):c.467_469delinsT (p.Ala156fs)
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378
NM_000370.3(TTPA):c.489del (p.Trp163fs)
NM_000370.3(TTPA):c.530_531delinsGTAAGT (p.Lys177fs) rs1554605631
NM_000370.3(TTPA):c.548T>C (p.Leu183Pro) rs397515525
NM_000370.3(TTPA):c.552+2T>A rs886040964
NM_000370.3(TTPA):c.552G>T (p.Thr184=) rs181109321
NM_000370.3(TTPA):c.553-1G>T rs2129741848
NM_000370.3(TTPA):c.557C>A (p.Ser186Ter) rs1554605498
NM_000370.3(TTPA):c.588del (p.Leu196_Ile197insTer)
NM_000370.3(TTPA):c.663+10_663+11insAC rs757003890
NM_000370.3(TTPA):c.736G>C (p.Gly246Arg) rs397515526
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377
NM_000370.3(TTPA):c.74del (p.Gln25fs)
NM_000370.3(TTPA):c.807T>A (p.Tyr269Ter) rs1554605276
NM_000370.3(TTPA):c.80del (p.Gly27fs)
NM_000370.3(TTPA):c.815G>T (p.Ser272Ile) rs1233515069
NM_000370.3(TTPA):c.83_105del (p.Leu28fs) rs1554525128
NM_000370.3(TTPA):c.84_91dup (p.Leu31fs) rs1805745954
NM_000370.3(TTPA):c.88_118del (p.Ala30fs) rs1554525125

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