List of variants in gene TPP1 studied for Autosomal recessive spinocerebellar ataxia 7

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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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
NM_000391.4(TPP1):c.509-1G>C	rs56144125	0.00053
NM_000391.4(TPP1):c.225A>G (p.Gln75=)	rs368709098	0.00004
NM_000391.4(TPP1):c.1266G>C (p.Gln422His)	rs121908200	0.00002
NM_000391.4(TPP1):c.638C>T (p.Ser213Leu)	rs773546205	0.00002
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly)	rs398122959	0.00001
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)	rs1184563885	0.00001
NM_000391.4(TPP1):c.1029G>C (p.Glu343Asp)	rs886037833
NM_000391.4(TPP1):c.89+1G>A	rs1855631590

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