List of variants in gene TPP1 reported as pathogenic for Inborn genetic diseases

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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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.1266G>C (p.Gln422His)	rs121908200	0.00002
NM_000391.4(TPP1):c.1497del (p.Gly501fs)	rs1554901523
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)	rs202189057
NM_000391.4(TPP1):c.509-1G>A	rs56144125

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