List of variants in gene TTPA reported as likely pathogenic 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)	rs121917851	0.00004
NM_000370.3(TTPA):c.205-2A>G	rs758349851	0.00002
NM_000370.3(TTPA):c.2T>C (p.Met1Thr)	rs786204758	0.00002
NM_000370.3(TTPA):c.13C>T (p.Arg5Ter)	rs1008240677
NM_000370.3(TTPA):c.1A>T (p.Met1Leu)	rs1408863841
NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer)	rs1554524061
NM_000370.3(TTPA):c.2T>A (p.Met1Lys)	rs786204758
NM_000370.3(TTPA):c.313A>T (p.Arg105Ter)	rs1057516423
NM_000370.3(TTPA):c.441del (p.Glu148fs)	rs1057517448
NM_000370.3(TTPA):c.487del (p.Trp163fs)	rs397515378
NM_000370.3(TTPA):c.557C>A (p.Ser186Ter)	rs1554605498
NM_000370.3(TTPA):c.83_105del (p.Leu28fs)	rs1554525128
NM_000370.3(TTPA):c.88_118del (p.Ala30fs)	rs1554525125

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