ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000116.5(TAFAZZIN):c.149T>C (p.Leu50Pro) rs2522924071
NM_000116.5(TAFAZZIN):c.161T>A (p.Ile54Asn) rs2522924321
NM_000116.5(TAFAZZIN):c.211T>C (p.Ser71Pro) rs2522924959
NM_000116.5(TAFAZZIN):c.245T>C (p.Leu82Pro) rs2522936895
NM_000116.5(TAFAZZIN):c.302A>T (p.Asp101Val) rs2522941943
NM_000116.5(TAFAZZIN):c.310T>G (p.Phe104Val) rs397515741
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.349A>G (p.Lys117Glu) rs2522943187
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg) rs104894937
NM_000116.5(TAFAZZIN):c.481G>A (p.Gly161Arg) rs2522984825
NM_000116.5(TAFAZZIN):c.533T>C (p.Phe178Ser) rs2522985468
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val) rs2522986801
NM_000116.5(TAFAZZIN):c.583+5G>A rs2522987201
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.626T>A (p.Ile209Asn) rs2522990751
NM_000116.5(TAFAZZIN):c.635T>C (p.Leu212Pro) rs2522990873

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