ClinVar Miner

List of variants in gene TPP1 reported by Ambry Genetics

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Gene type:
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Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19057
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170 0.04313
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
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.299A>G (p.Gln100Arg) rs1800746 0.00889
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.840G>C (p.Leu280=) rs140349036 0.00257
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254 0.00209
NM_000391.4(TPP1):c.1497T>C (p.Pro499=) rs142672910 0.00170
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00133
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) rs139059149 0.00095
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) rs148064565 0.00088
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) rs146798796 0.00051
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) rs138448968 0.00041
NM_000391.4(TPP1):c.513G>T (p.Gly171=) rs145224171 0.00039
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg) rs149529997 0.00034
NM_000391.4(TPP1):c.1307T>C (p.Leu436Pro) rs150039898 0.00031
NM_000391.4(TPP1):c.776G>A (p.Arg259His) rs140176031 0.00027
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile) rs142163063 0.00025
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met) rs201034755 0.00024
NM_000391.4(TPP1):c.1086G>A (p.Gly362=) rs140809393 0.00021
NM_000391.4(TPP1):c.1252C>T (p.Arg418Trp) rs143584882 0.00021
NM_000391.4(TPP1):c.1328A>G (p.Asn443Ser) rs139343938 0.00013
NM_000391.4(TPP1):c.318C>T (p.Ala106=) rs774528021 0.00010
NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn) rs145966505 0.00008
NM_000391.4(TPP1):c.947C>A (p.Ala316Asp) rs149463616 0.00007
NM_000391.4(TPP1):c.509-5T>C rs375548657 0.00006
NM_000391.4(TPP1):c.530C>T (p.Pro177Leu) rs753351050 0.00005
NM_000391.4(TPP1):c.-3A>G rs762785189 0.00004
NM_000391.4(TPP1):c.1003G>A (p.Ala335Thr) rs146927291 0.00004
NM_000391.4(TPP1):c.438G>A (p.Thr146=) rs777339172 0.00004
NM_000391.4(TPP1):c.797G>A (p.Arg266Gln) rs757953998 0.00004
NM_000391.4(TPP1):c.1551+5G>A rs778756815 0.00003
NM_000391.4(TPP1):c.54A>T (p.Lys18Asn) rs753509905 0.00003
NM_000391.4(TPP1):c.688-4A>G rs370683758 0.00003
NM_000391.4(TPP1):c.122C>T (p.Ala41Val) rs768795654 0.00002
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200 0.00002
NM_000391.4(TPP1):c.465T>C (p.His155=) rs778947332 0.00002
NM_000391.4(TPP1):c.782T>C (p.Val261Ala) rs146136938 0.00002
NM_000391.4(TPP1):c.83G>A (p.Arg28Gln) rs369126677 0.00002
NM_000391.4(TPP1):c.890G>A (p.Arg297Gln) rs796053441 0.00002
NM_000391.4(TPP1):c.1035G>A (p.Met345Ile) rs760406360 0.00001
NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr) rs190013230 0.00001
NM_000391.4(TPP1):c.1192C>T (p.Leu398Phe) rs149319579 0.00001
NM_000391.4(TPP1):c.1289T>A (p.Leu430Gln) rs780656523 0.00001
NM_000391.4(TPP1):c.1543C>T (p.Leu515Phe) rs748345018 0.00001
NM_000391.4(TPP1):c.197A>T (p.Gln66Leu) rs751088292 0.00001
NM_000391.4(TPP1):c.284C>G (p.Thr95Ser) rs535584300 0.00001
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209 0.00001
NM_000391.4(TPP1):c.69G>A (p.Pro23=) rs141680923 0.00001
NM_000391.4(TPP1):c.734G>A (p.Arg245His) rs754161261 0.00001
NM_000391.4(TPP1):c.775C>T (p.Arg259Cys) rs748038934 0.00001
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.4(TPP1):c.1181A>G (p.Gln394Arg) rs796053442
NM_000391.4(TPP1):c.1190T>G (p.Phe397Cys)
NM_000391.4(TPP1):c.1300C>T (p.Pro434Ser) rs1420637772
NM_000391.4(TPP1):c.1422C>G (p.Thr474=)
NM_000391.4(TPP1):c.1497del (p.Gly501fs) rs1554901523
NM_000391.4(TPP1):c.1512C>T (p.Asn504=) rs1564854136
NM_000391.4(TPP1):c.1681C>T (p.Leu561Phe)
NM_000391.4(TPP1):c.17+2T>A
NM_000391.4(TPP1):c.193G>A (p.Val65Met)
NM_000391.4(TPP1):c.213C>T (p.Pro71=) rs143730817
NM_000391.4(TPP1):c.221C>T (p.Pro74Leu)
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.373A>G (p.Ser125Gly)
NM_000391.4(TPP1):c.415C>T (p.His139Tyr)
NM_000391.4(TPP1):c.436A>G (p.Thr146Ala)
NM_000391.4(TPP1):c.497A>T (p.His166Leu) rs796053437
NM_000391.4(TPP1):c.509-1G>A rs56144125
NM_000391.4(TPP1):c.532C>G (p.Pro178Ala) rs149986601
NM_000391.4(TPP1):c.553C>G (p.Arg185Gly)
NM_000391.4(TPP1):c.623G>A (p.Arg208Gln)
NM_000391.4(TPP1):c.6A>G (p.Gly2=) rs747594496
NM_000391.4(TPP1):c.733C>T (p.Arg245Cys) rs587780481
NM_000391.4(TPP1):c.808G>C (p.Gly270Arg)
NM_000391.4(TPP1):c.816G>A (p.Glu272=) rs1564855114
NM_000391.4(TPP1):c.887G>A (p.Gly296Asp)
NM_000391.4(TPP1):c.889C>G (p.Arg297Gly)
NM_000391.4(TPP1):c.905A>G (p.Glu302Gly)
NM_000391.4(TPP1):c.958G>A (p.Val320Met)

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