ClinVar Miner

List of variants in gene TPP1 reported as pathogenic for Neuronal ceroid lipofuscinosis

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Total variants: 20
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HGVS dbSNP
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp) rs750428882
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu) rs121908199
NM_000391.4(TPP1):c.1266G>C (p.Gln422His) rs121908200
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter) rs786204753
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly) rs398122959
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202
NM_000391.4(TPP1):c.1676_1677CT[1] (p.Leu560fs)
NM_000391.4(TPP1):c.196C>T (p.Gln66Ter) rs759080581
NM_000391.4(TPP1):c.237C>G (p.Tyr79Ter) rs1564855860
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.325C>T (p.Gln109Ter)
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767
NM_000391.4(TPP1):c.509-1G>A rs56144125
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.617G>A (p.Arg206His) rs121908209
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000391.4(TPP1):c.827A>T (p.Asp276Val) rs763162812
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) rs119455957

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