List of variants in gene TPP1 reported as uncertain significance by Counsyl

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)	rs138976576	0.00133
NM_000391.4(TPP1):c.225A>G (p.Gln75=)	rs368709098	0.00004
NM_000391.4(TPP1):c.887-18A>G	rs935526225	0.00003
NM_000391.4(TPP1):c.1642T>C (p.Trp548Arg)	rs1348967263	0.00001
NM_000391.4(TPP1):c.1042_1047del (p.Ala348_Ala349del)	rs1554901785
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)	rs1554901784
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer)	rs763961289
NM_000391.4(TPP1):c.457T>C (p.Ser153Pro)	rs1554902028
NM_000391.4(TPP1):c.508+2dup	rs1554902017
NM_000391.4(TPP1):c.731T>C (p.Met244Thr)	rs1554901895
NM_000391.4(TPP1):c.833A>C (p.Gln278Pro)	rs796053439

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