ClinVar Miner

List of variants in gene TPP1 studied for Ceroid lipofuscinosis neuronal 2; Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

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Total variants: 12
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HGVS dbSNP
NM_000391.4(TPP1):c.101G>A (p.Gly34Asp) rs138448968
NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu) rs1564854760
NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr) rs190013230
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met) rs201034755
NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg) rs149529997
NM_000391.4(TPP1):c.319G>A (p.Gly107Arg) rs201613668
NM_000391.4(TPP1):c.379C>T (p.Arg127Ter) rs756564767
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000391.4(TPP1):c.776G>A (p.Arg259His) rs140176031
NM_000391.4(TPP1):c.851G>T (p.Gly284Val) rs119455957
NM_000391.4(TPP1):c.902A>C (p.Gln301Pro) rs1191799507

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