ClinVar Miner

List of variants studied for Trichothiodystrophy 3, photosensitive

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_207118.3(GTF2H5):c.167G>A (p.Arg56Gln) rs181096841 0.00028
NM_207118.3(GTF2H5):c.116A>T (p.Asp39Val) rs773165282 0.00002
NM_207118.3(GTF2H5):c.166C>T (p.Arg56Ter) rs121434364 0.00002
NM_207118.3(GTF2H5):c.36-2A>G rs765378190 0.00001
NM_207118.3(GTF2H5):c.163G>T (p.Glu55Ter) rs1777038679
NM_207118.3(GTF2H5):c.29T>A (p.Ile10Lys) rs1785841426
NM_207118.3(GTF2H5):c.49A>T (p.Lys17Ter) rs1777036380
NM_207118.3(GTF2H5):c.62T>C (p.Leu21Pro) rs121434365

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