ClinVar Miner

List of variants in gene COG1 reported as benign by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_018714.3(COG1):c.2383-17T>C rs3829571 0.91491
NM_018714.3(COG1):c.543A>G (p.Ala181=) rs11544800 0.43890
NM_018714.3(COG1):c.333G>A (p.Gln111=) rs1052706 0.43844
NM_018714.3(COG1):c.1473C>T (p.Ser491=) rs1551036 0.13412
NM_018714.3(COG1):c.1357G>C (p.Glu453Gln) rs62621249 0.06636
NM_018714.3(COG1):c.1893C>T (p.Cys631=) rs80232475 0.00230
NM_018714.3(COG1):c.401C>T (p.Ser134Leu) rs146066919 0.00125
NM_018714.3(COG1):c.1782G>A (p.Glu594=) rs1037256
NM_018714.3(COG1):c.903G>C (p.Gln301His) rs117208167

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