ClinVar Miner

List of variants in gene TARS1 studied for Trichothiodystrophy 7, nonphotosensitive

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_152295.5(TARS1):c.985-35G>A rs3765145 0.51204
NM_152295.5(TARS1):c.984+27T>A rs2270903 0.51180
NM_152295.5(TARS1):c.1653G>A (p.Ala551=) rs3736393 0.09094
NM_152295.5(TARS1):c.62G>A (p.Gly21Asp) rs34334786 0.01136
NM_152295.5(TARS1):c.1912C>T (p.Arg638Ter) rs749888012 0.00001
NM_152295.5(TARS1):c.1829dup (p.Lys611fs)
NM_152295.5(TARS1):c.680T>C (p.Leu227Pro) rs1579584983
NM_152295.5(TARS1):c.826A>G (p.Lys276Glu) rs1579585658

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