ClinVar Miner

List of variants reported as uncertain significance for COG1 congenital disorder of glycosylation by Illumina Laboratory Services, Illumina

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_018714.3(COG1):c.1712G>A (p.Arg571Gln) rs141750466 0.00398
NM_018714.3(COG1):c.2304A>G (p.Thr768=) rs147598221 0.00134
NM_018714.3(COG1):c.401C>T (p.Ser134Leu) rs146066919 0.00125
NM_018714.3(COG1):c.1282-3T>C rs188853520 0.00064
NM_018714.3(COG1):c.2900C>G (p.Pro967Arg) rs147588256 0.00034
NM_018714.3(COG1):c.1117G>A (p.Val373Met) rs201886877 0.00022
NM_018714.3(COG1):c.1243G>C (p.Glu415Gln) rs142830395 0.00021
NM_018714.3(COG1):c.2365G>A (p.Glu789Lys) rs201867802 0.00021
NM_018714.3(COG1):c.1132G>C (p.Gly378Arg) rs138121131 0.00020
NM_018714.3(COG1):c.2482A>G (p.Lys828Glu) rs1011259443 0.00013
NM_018714.3(COG1):c.560+15C>T rs201364732 0.00013
NM_018714.3(COG1):c.1230G>A (p.Pro410=) rs148502827 0.00012
NM_018714.3(COG1):c.265C>T (p.Arg89Cys) rs766457949 0.00012
NM_018714.3(COG1):c.384G>A (p.Pro128=) rs142827255 0.00012
NM_018714.3(COG1):c.542C>T (p.Ala181Val) rs534708439 0.00012
NM_018714.3(COG1):c.2511-5C>G rs201123101 0.00011
NM_018714.3(COG1):c.2619+11T>A rs144115463 0.00011
NM_018714.3(COG1):c.315+8C>T rs748732950 0.00011
NM_018714.3(COG1):c.1722C>T (p.Ser574=) rs149888309 0.00009
NM_018714.3(COG1):c.2485A>C (p.Ser829Arg) rs199752799 0.00009
NM_018714.3(COG1):c.2752A>G (p.Met918Val) rs201733537 0.00008
NM_018714.3(COG1):c.20C>T (p.Ser7Leu) rs200144944 0.00005
NM_018714.3(COG1):c.2666G>A (p.Arg889Gln) rs148773959 0.00005
NM_018714.3(COG1):c.1157T>C (p.Met386Thr) rs200459268 0.00004
NM_018714.3(COG1):c.1757G>A (p.Arg586Gln) rs769310036 0.00004
NM_018714.3(COG1):c.2617T>G (p.Ser873Ala) rs139330442 0.00003
NM_018714.3(COG1):c.87G>C (p.Glu29Asp) rs375609831 0.00003
NM_018714.3(COG1):c.1784G>T (p.Gly595Val) rs752197597 0.00002
NM_018714.3(COG1):c.1890G>A (p.Gln630=) rs146046236 0.00002
NM_001098832.2(VCF1):c.*1037G>A rs369768700 0.00001
NM_018714.3(COG1):c.1318A>G (p.Ser440Gly) rs886053369 0.00001
NM_018714.3(COG1):c.1480A>G (p.Asn494Asp) rs779677895 0.00001
NM_018714.3(COG1):c.1621T>A (p.Ser541Thr) rs1485609633 0.00001
NM_018714.3(COG1):c.1689G>A (p.Ala563=) rs1313968056 0.00001
NM_018714.3(COG1):c.1695C>T (p.Thr565=) rs760702621 0.00001
NM_018714.3(COG1):c.1750T>C (p.Cys584Arg) rs1230710369 0.00001
NM_018714.3(COG1):c.2682C>T (p.Asn894=) rs781686684 0.00001
NM_018714.3(COG1):c.303G>A (p.Pro101=) rs886053368 0.00001
NM_018714.3(COG1):c.791C>T (p.Thr264Ile) rs367884440 0.00001
NM_018714.3(COG1):c.1782G>C (p.Glu594Asp) rs1037256
NM_018714.3(COG1):c.200G>T (p.Gly67Val) rs886053367
NM_018714.3(COG1):c.2597A>G (p.His866Arg) rs555212855
NM_018714.3(COG1):c.2605G>A (p.Val869Met) rs886053370
NM_018714.3(COG1):c.2626_2629dup (p.Gly877fs) rs1568298983
NM_018714.3(COG1):c.26C>T (p.Ala9Val) rs759369353
NM_018714.3(COG1):c.2791G>T (p.Glu931Ter) rs774479733
NM_018714.3(COG1):c.2808T>C (p.Val936=) rs1382677421
NM_018714.3(COG1):c.2816dup (p.Ala940fs) rs776834154
NM_018714.3(COG1):c.315+10C>G rs1188495993
NM_018714.3(COG1):c.733C>T (p.Pro245Ser) rs1486692795
NM_018714.3(COG1):c.903G>C (p.Gln301His) rs117208167
NM_018714.3(COG1):c.967C>A (p.His323Asn) rs369505856

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