ClinVar Miner

List of variants in gene COG1, VCF1 studied for disorder of multiple glycosylation

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_018714.3(COG1):c.2806-13C>T rs141573449 0.00381
NM_018714.3(COG1):c.2900C>G (p.Pro967Arg) rs147588256 0.00034
NM_018714.3(COG1):c.2822G>A (p.Arg941His) rs759050295 0.00010
NM_018714.3(COG1):c.2818G>A (p.Ala940Thr) rs144896007 0.00008
NM_018714.3(COG1):c.2890A>G (p.Thr964Ala) rs777073858 0.00006
NM_018714.3(COG1):c.2826C>T (p.Ser942=) rs767159115 0.00005
NM_018714.3(COG1):c.2836G>A (p.Asp946Asn) rs139440017 0.00004
NM_018714.3(COG1):c.2929A>G (p.Ser977Gly) rs757086937 0.00004
NM_018714.3(COG1):c.2841G>A (p.Pro947=) rs777590708 0.00002
NM_018714.3(COG1):c.2891C>T (p.Thr964Met) rs767105962 0.00002
NM_018714.3(COG1):c.*41C>T rs369768700 0.00001
NM_018714.3(COG1):c.2844A>G (p.Thr948=) rs376824047 0.00001
NM_018714.3(COG1):c.2848C>T (p.Pro950Ser) rs779987364 0.00001
NM_018714.3(COG1):c.2866C>T (p.Gln956Ter) rs748475815 0.00001
NM_018714.3(COG1):c.2892G>A (p.Thr964=) rs775097195 0.00001
NM_018714.3(COG1):c.2806-19_2806-15del
NM_018714.3(COG1):c.2808T>C (p.Val936=) rs1382677421
NM_018714.3(COG1):c.2816dup (p.Ala940fs) rs776834154
NM_018714.3(COG1):c.2817G>A (p.Pro939=)
NM_018714.3(COG1):c.2825C>T (p.Ser942Phe)
NM_018714.3(COG1):c.2840C>T (p.Pro947Leu) rs755921036
NM_018714.3(COG1):c.2862C>T (p.Phe954=)
NM_018714.3(COG1):c.2867A>C (p.Gln956Pro) rs2145112419
NM_018714.3(COG1):c.2872G>A (p.Val958Ile)
NM_018714.3(COG1):c.2883A>C (p.Glu961Asp) rs2145112491
NM_018714.3(COG1):c.2928T>C (p.Ser976=)

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