ClinVar Miner

List of variants reported as uncertain significance for COG1-CDG by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 52
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HGVS dbSNP
NM_018714.3(COG1):c.*41C>T
NM_018714.3(COG1):c.1117G>A (p.Val373Met) rs201886877
NM_018714.3(COG1):c.1132G>C (p.Gly378Arg)
NM_018714.3(COG1):c.1157T>C (p.Met386Thr) rs200459268
NM_018714.3(COG1):c.1230G>A (p.Pro410=) rs148502827
NM_018714.3(COG1):c.1243G>C (p.Glu415Gln)
NM_018714.3(COG1):c.1282-3T>C rs188853520
NM_018714.3(COG1):c.1318A>G (p.Ser440Gly) rs886053369
NM_018714.3(COG1):c.1480A>G (p.Asn494Asp)
NM_018714.3(COG1):c.1621T>A (p.Ser541Thr)
NM_018714.3(COG1):c.1689G>A (p.Ala563=)
NM_018714.3(COG1):c.1695C>T (p.Thr565=)
NM_018714.3(COG1):c.1712G>A (p.Arg571Gln) rs141750466
NM_018714.3(COG1):c.1722C>T (p.Ser574=)
NM_018714.3(COG1):c.1750T>C (p.Cys584Arg)
NM_018714.3(COG1):c.1757G>A (p.Arg586Gln)
NM_018714.3(COG1):c.1782G>C (p.Glu594Asp)
NM_018714.3(COG1):c.1784G>T (p.Gly595Val)
NM_018714.3(COG1):c.1890G>A (p.Gln630=)
NM_018714.3(COG1):c.200G>T (p.Gly67Val) rs886053367
NM_018714.3(COG1):c.20C>T (p.Ser7Leu) rs200144944
NM_018714.3(COG1):c.2304A>G (p.Thr768=) rs147598221
NM_018714.3(COG1):c.2365G>A (p.Glu789Lys) rs201867802
NM_018714.3(COG1):c.2482A>G (p.Lys828Glu)
NM_018714.3(COG1):c.2485A>C (p.Ser829Arg)
NM_018714.3(COG1):c.2511-5C>G rs201123101
NM_018714.3(COG1):c.2597A>G (p.His866Arg)
NM_018714.3(COG1):c.2605G>A (p.Val869Met) rs886053370
NM_018714.3(COG1):c.2617T>G (p.Ser873Ala)
NM_018714.3(COG1):c.2619+11T>A rs144115463
NM_018714.3(COG1):c.2626_2629dup (p.Gly877fs) rs1568298983
NM_018714.3(COG1):c.265C>T (p.Arg89Cys) rs766457949
NM_018714.3(COG1):c.2666G>A (p.Arg889Gln) rs148773959
NM_018714.3(COG1):c.2682C>T (p.Asn894=) rs781686684
NM_018714.3(COG1):c.26C>T (p.Ala9Val) rs759369353
NM_018714.3(COG1):c.2752A>G (p.Met918Val) rs201733537
NM_018714.3(COG1):c.2791G>T (p.Glu931Ter) rs774479733
NM_018714.3(COG1):c.2808T>C (p.Val936=)
NM_018714.3(COG1):c.2816dup (p.Ala940fs) rs776834154
NM_018714.3(COG1):c.2900C>G (p.Pro967Arg) rs147588256
NM_018714.3(COG1):c.303G>A (p.Pro101=) rs886053368
NM_018714.3(COG1):c.315+10C>G
NM_018714.3(COG1):c.315+8C>T rs748732950
NM_018714.3(COG1):c.384G>A (p.Pro128=)
NM_018714.3(COG1):c.401C>T (p.Ser134Leu) rs146066919
NM_018714.3(COG1):c.542C>T (p.Ala181Val) rs534708439
NM_018714.3(COG1):c.560+15C>T rs201364732
NM_018714.3(COG1):c.733C>T (p.Pro245Ser)
NM_018714.3(COG1):c.791C>T (p.Thr264Ile)
NM_018714.3(COG1):c.87G>C (p.Glu29Asp) rs375609831
NM_018714.3(COG1):c.903G>C (p.Gln301His) rs117208167
NM_018714.3(COG1):c.967C>A (p.His323Asn) rs369505856

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