List of variants in gene TAFAZZIN reported as pathogenic by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter)	rs2522925387
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter)	rs1603377945
NM_000116.5(TAFAZZIN):c.461-2A>G	rs876661038
NM_000116.5(TAFAZZIN):c.497T>A (p.Leu166Ter)	rs2522985080
NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs)	rs2522985246
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)	rs132630277
NM_000116.5(TAFAZZIN):c.703dup (p.Ile235fs)	rs2522996355
NM_000116.5(TAFAZZIN):c.777+1G>A	rs2068606932
NM_000116.5(TAFAZZIN):c.868_872dup (p.Arg292fs)	rs2522999559

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