List of variants in gene TAFAZZIN reported as pathogenic for cardiovascular disorder

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: 47

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HGVS	dbSNP	gnomAD frequency
NC_000023.10:g.(?_153647872)_(153650075_?)del
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs)	rs2148186224
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter)	rs104894941
NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter)
NM_000116.5(TAFAZZIN):c.238+1del
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg)	rs1557191170
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg)	rs1557191170
NM_000116.5(TAFAZZIN):c.239-1G>A	rs1603377590
NM_000116.5(TAFAZZIN):c.239-1G>C	rs1603377590
NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser)	rs104894942
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys)	rs104894942
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His)	rs1060500044
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu)	rs1060500044
NM_000116.5(TAFAZZIN):c.284+110G>A	rs1603377747
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer)	rs2148191858
NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu)	rs397515741
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)	rs727504327
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg)	rs104894937
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter)	rs1569552731
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)
NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs)
NM_000116.5(TAFAZZIN):c.536del (p.Pro179fs)
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
NM_000116.5(TAFAZZIN):c.562G>T (p.Glu188Ter)
NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs)
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs)	rs2148211636
NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter)	rs794729167
NM_000116.5(TAFAZZIN):c.583G>T (p.Gly195Ter)	rs878853656
NM_000116.5(TAFAZZIN):c.586del (p.Ile196fs)
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)	rs132630277
NM_000116.5(TAFAZZIN):c.605_608del (p.Glu202fs)	rs1603381671
NM_000116.5(TAFAZZIN):c.634del (p.Leu212fs)	rs2148212610
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg)	rs1085307797
NM_000116.5(TAFAZZIN):c.647-1G>C	rs587776741
NM_000116.5(TAFAZZIN):c.688del (p.Arg230fs)	rs1569552936
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter)	rs1603381860
NM_000116.5(TAFAZZIN):c.700-1G>A	rs397515747
NM_000116.5(TAFAZZIN):c.703dup (p.Ile235fs)
NM_000116.5(TAFAZZIN):c.710_711del (p.Val237fs)	rs727504394
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg)	rs387907218
NM_000116.5(TAFAZZIN):c.718G>C (p.Gly240Arg)	rs387907218
NM_000116.5(TAFAZZIN):c.777+1G>A	rs2068606932
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter)	rs1298362744
NM_000116.5(TAFAZZIN):c.868_872dup (p.Arg292fs)

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