ClinVar Miner

List of variants in gene TPP1 reported as benign for Autosomal recessive spinocerebellar ataxia 7

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.1075+28T>C rs7943955 0.98952
NM_000391.4(TPP1):c.508+26T>A rs1800738 0.47213
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19057
NM_000391.4(TPP1):c.1075+42C>T rs2072651 0.18683
NM_000391.4(TPP1):c.1426-78T>C rs1800723 0.15684
NM_000391.4(TPP1):c.687+32T>C rs1800710 0.08743

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