List of variants in gene TPP1 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000391.4(TPP1):c.509-1G>C	rs56144125	0.00053
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)	rs119455955	0.00025
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)	rs119455954	0.00005
NM_000391.4(TPP1):c.1439T>G (p.Val480Gly)	rs1192702664	0.00001
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp)	rs750428882
NM_000391.4(TPP1):c.1288_1289dup (p.Leu430_Ser431insTer)	rs2134591764
NM_000391.4(TPP1):c.1678_1679del (p.Leu560fs)	rs759664259
NM_000391.4(TPP1):c.565C>T (p.Gln189Ter)

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