ClinVar Miner

List of variants in gene TPP1 reported by Athena Diagnostics Inc

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Total variants: 22
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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.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.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.553C>T (p.Arg185Cys) rs34758634 0.00324
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036 0.00257
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.1241A>T (p.Asn414Ile) rs146798796 0.00051
NM_000391.4(TPP1):c.1307T>C (p.Leu436Pro) rs150039898 0.00031
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955 0.00025
NM_000391.4(TPP1):c.1490G>A (p.Arg497His) rs549928656 0.00005
NM_000391.4(TPP1):c.18-10G>T rs778206032 0.00003
NM_000391.4(TPP1):c.83G>A (p.Arg28Gln) rs369126677 0.00002
NM_000391.4(TPP1):c.580G>A (p.Val194Ile) rs1303710593

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