ClinVar Miner

List of variants in gene TPP1 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 21
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HGVS dbSNP
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155
NM_000391.4(TPP1):c.1049G>A (p.Arg350Gln) rs199866669
NM_000391.4(TPP1):c.118C>T (p.Arg40Cys) rs794727482
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile) rs146798796
NM_000391.4(TPP1):c.1252C>T (p.Arg418Trp)
NM_000391.4(TPP1):c.1495C>G (p.Pro499Ala) rs201126448
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.4(TPP1):c.1552-9C>T rs369699167
NM_000391.4(TPP1):c.1558C>A (p.Arg520Ser) rs371204585
NM_000391.4(TPP1):c.1653C>G (p.Pro551=) rs372564255
NM_000391.4(TPP1):c.244C>T (p.Leu82=) rs794727623
NM_000391.4(TPP1):c.510G>A (p.Val170=) rs751488322
NM_000391.4(TPP1):c.523C>T (p.Arg175Cys) rs750241218
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) rs139059149
NM_000391.4(TPP1):c.665A>G (p.Asn222Ser) rs372787642
NM_000391.4(TPP1):c.687+20C>T rs569432039
NM_000391.4(TPP1):c.6A>T (p.Gly2=) rs747594496
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile) rs142163063
NM_000391.4(TPP1):c.887-10A>G rs755445790
NM_000391.4(TPP1):c.887-18A>G rs935526225

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