ClinVar Miner

List of variants in gene TTPA reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379 0.00010
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) rs121917851 0.00004
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 0.00002
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) rs35916840 0.00002
NM_000370.3(TTPA):c.205-1G>C rs886040963 0.00001
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377

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