ClinVar Miner

List of variants in gene TPP1 reported as likely benign by Ambry Genetics

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Total variants: 20
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HGVS dbSNP gnomAD frequency
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.513G>T (p.Gly171=) rs145224171 0.00039
NM_000391.4(TPP1):c.1086G>A (p.Gly362=) rs140809393 0.00021
NM_000391.4(TPP1):c.318C>T (p.Ala106=) rs774528021 0.00010
NM_000391.4(TPP1):c.438G>A (p.Thr146=) rs777339172 0.00004
NM_000391.4(TPP1):c.122C>T (p.Ala41Val) rs768795654 0.00002
NM_000391.4(TPP1):c.465T>C (p.His155=) rs778947332 0.00002
NM_000391.4(TPP1):c.83G>A (p.Arg28Gln) rs369126677 0.00002
NM_000391.4(TPP1):c.69G>A (p.Pro23=) rs141680923 0.00001
NM_000391.4(TPP1):c.1422C>G (p.Thr474=)
NM_000391.4(TPP1):c.1512C>T (p.Asn504=) rs1564854136
NM_000391.4(TPP1):c.213C>T (p.Pro71=) rs143730817
NM_000391.4(TPP1):c.436A>G (p.Thr146Ala)
NM_000391.4(TPP1):c.6A>G (p.Gly2=) rs747594496
NM_000391.4(TPP1):c.816G>A (p.Glu272=) rs1564855114

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