ClinVar Miner

List of variants in gene CTF1 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001330.5(CTF1):c.120C>T (p.Tyr40=) rs8059269 0.02315
NM_001330.5(CTF1):c.*5C>A rs397516644 0.00016
NM_001330.5(CTF1):c.144+7G>T rs374359365 0.00010
NM_001330.5(CTF1):c.25+6G>C rs397516647 0.00001
NM_001330.5(CTF1):c.26-12C>G rs727502948 0.00001
NM_001330.5(CTF1):c.102G>A (p.Ala34=) rs727504837

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