ClinVar Miner

List of variants in gene TPP1 reported as benign by GeneDx

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Gene type:
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Total variants: 32
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HGVS dbSNP
NC_000011.10:g.6617275A>T
NC_000011.10:g.6619522A>G
NC_000011.10:g.6619638A>G
NM_000391.3(TPP1):c.-40T>C rs200184958
NM_000391.4(TPP1):c.1002C>T (p.Ser334=) rs796053432
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972
NM_000391.4(TPP1):c.1075+42C>T
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685
NM_000391.4(TPP1):c.1125C>T (p.Arg375=) rs587780972
NM_000391.4(TPP1):c.1146-107C>G
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) rs138744051
NM_000391.4(TPP1):c.1266+5G>A rs1800753
NM_000391.4(TPP1):c.1383G>A (p.Val461=) rs202190396
NM_000391.4(TPP1):c.1396G>A (p.Val466Met) rs78970155
NM_000391.4(TPP1):c.1426-10A>G rs200965587
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457
NM_000391.4(TPP1):c.1497T>C (p.Pro499=) rs142672910
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu) rs2734715
NM_000391.4(TPP1):c.228C>T (p.Tyr76=) rs373318861
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000391.4(TPP1):c.42C>A (p.Ile14=) rs35903915
NM_000391.4(TPP1):c.435T>C (p.Pro145=) rs188822344
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170
NM_000391.4(TPP1):c.508+31G>A
NM_000391.4(TPP1):c.513G>T (p.Gly171=) rs145224171
NM_000391.4(TPP1):c.687+32T>C
NM_000391.4(TPP1):c.688-18C>T rs376868997
NM_000391.4(TPP1):c.688-45G>A
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036
NM_000391.4(TPP1):c.887-7_887-6del rs35039601

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