ClinVar Miner

List of variants in gene COG1 reported as benign for COG1-congenital disorder of glycosylation

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_018714.3(COG1):c.1282-48T>C rs1026130 0.98047
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.529A>G (p.Ile177Val) rs150001655 0.00545
NM_018714.3(COG1):c.2620-10T>G rs144989249 0.00513
NM_018714.3(COG1):c.522T>C (p.Pro174=) rs75460067 0.00469
NM_018714.3(COG1):c.775G>T (p.Val259Leu) rs139304974 0.00419
NM_018714.3(COG1):c.1712G>A (p.Arg571Gln) rs141750466 0.00398
NM_018714.3(COG1):c.1893C>T (p.Cys631=) rs80232475 0.00230
NM_018714.3(COG1):c.2304A>G (p.Thr768=) rs147598221 0.00134
NM_018714.3(COG1):c.2619+11T>A rs144115463 0.00011
NM_018714.3(COG1):c.1782G>A (p.Glu594=) rs1037256

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