ClinVar Miner

List of variants in gene TPP1 studied for not specified

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Total variants: 75
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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.381-10dup rs146315473 0.02726
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.229+181A>C rs189816289 0.00351
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.688-7T>A rs375262484 0.00194
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_000391.3(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.7C>A (p.Leu3Ile) rs142163063 0.00025
NM_000391.4(TPP1):c.1086G>A (p.Gly362=) rs140809393 0.00021
NM_000391.4(TPP1):c.-20C>G rs368143492 0.00013
NM_000391.4(TPP1):c.1653C>G (p.Pro551=) rs372564255 0.00011
NM_000391.4(TPP1):c.318C>T (p.Ala106=) rs774528021 0.00010
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.645C>T (p.Asp215=) rs766845531 0.00007
NM_000391.4(TPP1):c.741C>T (p.Phe247=) rs372817942 0.00006
NM_000391.4(TPP1):c.1125C>T (p.Arg375=) rs587780972 0.00005
NM_000391.4(TPP1):c.6A>T (p.Gly2=) rs747594496 0.00005
NM_000391.4(TPP1):c.-3A>G rs762785189 0.00004
NM_000391.4(TPP1):c.228C>T (p.Tyr76=) rs373318861 0.00004
NM_000391.4(TPP1):c.797G>A (p.Arg266Gln) rs757953998 0.00004
NM_000391.4(TPP1):c.688-4A>G rs370683758 0.00003
NM_000391.4(TPP1):c.75C>T (p.Pro25=) rs902447645 0.00003
NM_000391.4(TPP1):c.83G>A (p.Arg28Gln) rs369126677 0.00002
NM_000391.4(TPP1):c.-12C>T rs770733577 0.00001
NM_000391.4(TPP1):c.1076-17C>T rs1258440716 0.00001
NM_000391.4(TPP1):c.1076-7C>T rs746276384 0.00001
NM_000391.4(TPP1):c.1146-18G>A rs72909098 0.00001
NM_000391.4(TPP1):c.1362A>G (p.Ala454=) rs141701073 0.00001
NM_000391.4(TPP1):c.139C>T (p.Leu47=) rs1057523084 0.00001
NM_000391.4(TPP1):c.380+3G>A rs781744173 0.00001
NM_000391.4(TPP1):c.435T>C (p.Pro145=) rs188822344 0.00001
NM_000391.4(TPP1):c.524G>A (p.Arg175His) rs764922748 0.00001
NM_000391.4(TPP1):c.959T>G (p.Val320Gly) rs1314521780 0.00001
NM_000391.3(TPP1):c.-33C>G rs757508432
NM_000391.3(TPP1):c.-33C>T rs757508432
NM_000391.4(TPP1):c.-22A>C rs767860643
NM_000391.4(TPP1):c.1002C>T (p.Ser334=) rs796053432
NM_000391.4(TPP1):c.1367C>A (p.Ser456Tyr)
NM_000391.4(TPP1):c.1377C>T (p.Tyr459=) rs1554901573
NM_000391.4(TPP1):c.1393A>G (p.Arg465Gly) rs796053433
NM_000391.4(TPP1):c.1407A>T (p.Pro469=) rs750546113
NM_000391.4(TPP1):c.1426-10A>G rs200965587
NM_000391.4(TPP1):c.1470G>A (p.Glu490=) rs367681647
NM_000391.4(TPP1):c.1515A>G (p.Pro505=) rs1057521257
NM_000391.4(TPP1):c.1524C>T (p.Tyr508=) rs2134590875
NM_000391.4(TPP1):c.182T>C (p.Leu61Pro) rs1060502179
NM_000391.4(TPP1):c.213C>T (p.Pro71=) rs143730817
NM_000391.4(TPP1):c.216C>A (p.Ser72Arg) rs796053431
NM_000391.4(TPP1):c.230-19C>T rs1057523929
NM_000391.4(TPP1):c.420C>T (p.His140=) rs1057521538
NM_000391.4(TPP1):c.457T>C (p.Ser153Pro) rs1554902028
NM_000391.4(TPP1):c.580G>A (p.Val194Ile) rs1303710593
NM_000391.4(TPP1):c.828T>C (p.Asp276=) rs1057522366
NM_000391.4(TPP1):c.887-10_887-6del rs35039601
NM_000391.4(TPP1):c.887-6del rs35039601
NM_000391.4(TPP1):c.887-8_887-6del rs35039601
NM_000391.4(TPP1):c.960G>C (p.Val320=) rs1554901808

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