ClinVar Miner

List of variants in gene TPP1 reported as benign

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Gene type:
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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.1075+28T>C rs7943955 0.98952
NM_000391.4(TPP1):c.*1628G>A rs7488 0.76311
NM_000391.4(TPP1):c.508+26T>A rs1800738 0.47213
NM_000391.4(TPP1):c.*1588C>T rs7487 0.44955
NM_000391.3(TPP1):c.-238T>C rs1800752 0.34997
NM_000391.4(TPP1):c.*1118G>C rs1045450 0.27054
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19057
NM_000391.4(TPP1):c.1075+42C>T rs2072651 0.18683
NM_000391.4(TPP1):c.1426-78T>C rs1800723 0.15684
NM_000391.4(TPP1):c.1146-107C>G rs1800745 0.15491
NM_000391.4(TPP1):c.687+32T>C rs1800710 0.08743
NM_000391.3(TPP1):c.-122T>C rs1800732 0.07336
NC_000011.10:g.6619550C>T rs1800756 0.05012
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170 0.04313
NM_000391.4(TPP1):c.381-10dup rs146315473 0.02726
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_000391.4(TPP1):c.688-45G>A rs57382209 0.01610
NM_000391.4(TPP1):c.508+31G>A rs112765517 0.01569
NM_000391.4(TPP1):c.*71G>A rs140680586 0.01221
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972 0.00982
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457 0.00902
NM_000391.4(TPP1):c.509-25C>T rs116069009 0.00892
NM_000391.4(TPP1):c.1266+28G>A rs115795247 0.00890
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_000391.4(TPP1):c.1146-24C>A rs13377445 0.00888
NM_000391.4(TPP1):c.1076-18A>G rs78676565 0.00826
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685 0.00817
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu) rs2734715 0.00549
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) rs138744051 0.00456
NM_000391.4(TPP1):c.42C>A (p.Ile14=) rs35903915 0.00419
NM_000391.4(TPP1):c.1396G>A (p.Val466Met) rs78970155 0.00339
NM_000391.4(TPP1):c.553C>T (p.Arg185Cys) rs34758634 0.00324
NM_000391.4(TPP1):c.381-23G>T rs181191327 0.00312
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036 0.00257
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254 0.00209
NM_000391.4(TPP1):c.688-7T>A rs375262484 0.00194
NM_000391.4(TPP1):c.1497T>C (p.Pro499=) rs142672910 0.00170
NM_000391.3(TPP1):c.-40T>C rs200184958 0.00053
NM_000391.4(TPP1):c.513G>T (p.Gly171=) rs145224171 0.00039
NM_000391.4(TPP1):c.688-18C>T rs376868997 0.00038
NM_000391.4(TPP1):c.*241T>C rs74843914 0.00029
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397 0.00018
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) rs141482368 0.00007
NM_000391.4(TPP1):c.1383G>A (p.Val461=) rs202190396 0.00007
NM_000391.4(TPP1):c.1125C>T (p.Arg375=) rs587780972 0.00005
NM_000391.4(TPP1):c.1407A>G (p.Pro469=) rs750546113 0.00004
NM_000391.4(TPP1):c.228C>T (p.Tyr76=) rs373318861 0.00004
NM_000391.4(TPP1):c.554G>A (p.Arg185His) rs773455971 0.00003
NM_000391.4(TPP1):c.1552-9C>T rs369699167 0.00002
NM_000391.4(TPP1):c.465T>C (p.His155=) rs778947332 0.00002
NM_000391.4(TPP1):c.435T>C (p.Pro145=) rs188822344 0.00001
NM_000391.4(TPP1):c.1002C>T (p.Ser334=) rs796053432
NM_000391.4(TPP1):c.1426-10A>G rs200965587
NM_000391.4(TPP1):c.186G>C (p.Ser62=) rs1310417118
NM_000391.4(TPP1):c.65G>T (p.Ser22Ile) rs202025584
NM_000391.4(TPP1):c.687+20C>T rs569432039
NM_000391.4(TPP1):c.688-18C>G rs376868997
NM_000391.4(TPP1):c.887-6del rs35039601
NM_000391.4(TPP1):c.887-7_887-6del rs35039601
NM_000391.4(TPP1):c.887-8_887-6del rs35039601
NM_000391.4(TPP1):c.887-9_887-6del rs35039601
NM_000391.4(TPP1):c.90-12dup

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