ClinVar Miner

List of variants in gene COA8 reported as likely benign by Fulgent Genetics, Fulgent Genetics

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001370595.2(COA8):c.351A>G (p.Leu117=) rs71417867 0.01287
NM_001370595.2(COA8):c.123+12C>T rs767933232 0.00010
NM_001370595.2(COA8):c.123+6C>T rs2274266 0.00006
NM_001370595.2(COA8):c.129A>C (p.Ser43=) rs143925033 0.00003
NM_001370595.2(COA8):c.81T>C (p.Ala27=) rs1268847789 0.00002
NM_001370595.2(COA8):c.123+10G>A rs751821020
NM_001370595.2(COA8):c.123+10G>C rs751821020

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