ClinVar Miner

List of variants in gene TAFAZZIN reported as pathogenic

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000116.5(TAFAZZIN):c.284+28G>A rs781969431 0.00001
NC_000023.10:g.(?_153647872)_(153650075_?)del
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs) rs2148186224
NM_000116.5(TAFAZZIN):c.145del (p.Val49fs) rs1557191074
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter) rs104894941
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAFAZZIN):c.154G>T (p.Glu52Ter) rs794729166
NM_000116.5(TAFAZZIN):c.207C>G (p.His69Gln) rs1557191125
NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter) rs2522925387
NM_000116.5(TAFAZZIN):c.238+1del rs2522925422
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.483del (p.Met162fs) rs1557193815
NM_000116.5(TAFAZZIN):c.487dup (p.Asp163fs) rs1557193821
NM_000116.5(TAFAZZIN):c.489dup (p.Phe164fs) rs2522984951
NM_000116.5(TAFAZZIN):c.497T>A (p.Leu166Ter) rs2522985080
NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs) rs2522985246
NM_000116.5(TAFAZZIN):c.526C>T (p.His176Tyr) rs794729174
NM_000116.5(TAFAZZIN):c.536del (p.Pro179fs) rs2522985522
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val) rs2522986801
NM_000116.5(TAFAZZIN):c.562G>T (p.Glu188Ter) rs375663114
NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs) rs2522987020
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) rs2522990298
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.639G>A (p.Trp213Ter) rs1557194077
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAFAZZIN):c.647-1G>C rs587776741
NM_000116.5(TAFAZZIN):c.647-2_649delinsTCCTGCACAG
NM_000116.5(TAFAZZIN):c.688del (p.Arg230fs) rs1569552936
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter) rs1603381860
NM_000116.5(TAFAZZIN):c.699+1G>A rs1057518416
NM_000116.5(TAFAZZIN):c.700-1G>A rs397515747
NM_000116.5(TAFAZZIN):c.703del (p.Ile235fs)
NM_000116.5(TAFAZZIN):c.703dup (p.Ile235fs) rs2522996355
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) rs2522999559

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