ClinVar Miner

List of variants in gene COG1, FAM104A studied for auditory system disease

Included ClinVar conditions (549):
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Total variants: 10
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HGVS dbSNP
NM_018714.3(COG1):c.*41C>T
NM_018714.3(COG1):c.2806-13C>T rs141573449
NM_018714.3(COG1):c.2808T>C (p.Val936=)
NM_018714.3(COG1):c.2816dup (p.Ala940fs) rs776834154
NM_018714.3(COG1):c.2822G>A (p.Arg941His)
NM_018714.3(COG1):c.2826C>T (p.Ser942=) rs767159115
NM_018714.3(COG1):c.2836G>A (p.Asp946Asn) rs139440017
NM_018714.3(COG1):c.2848C>T (p.Pro950Ser)
NM_018714.3(COG1):c.2900C>G (p.Pro967Arg) rs147588256
NM_018714.3(COG1):c.2929A>G (p.Ser977Gly) rs757086937

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