ClinVar Miner

List of variants reported as uncertain significance for COG1 congenital disorder of glycosylation by Invitae

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Total variants: 22
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HGVS dbSNP
NC_000017.10:g.(?_71189189)_(71189543_?)dup
NM_018714.3(COG1):c.1071G>T (p.Met357Ile)
NM_018714.3(COG1):c.1117G>A (p.Val373Met) rs201886877
NM_018714.3(COG1):c.1243G>C (p.Glu415Gln)
NM_018714.3(COG1):c.1498A>T (p.Ser500Cys)
NM_018714.3(COG1):c.1757G>A (p.Arg586Gln)
NM_018714.3(COG1):c.2183_2184delinsCA (p.Gly728Ala) rs1599328658
NM_018714.3(COG1):c.2222C>A (p.Pro741Gln)
NM_018714.3(COG1):c.2510G>C (p.Arg837Thr)
NM_018714.3(COG1):c.2675C>G (p.Thr892Arg)
NM_018714.3(COG1):c.2791G>A (p.Glu931Lys) rs774479733
NM_018714.3(COG1):c.2822G>A (p.Arg941His)
NM_018714.3(COG1):c.2836G>A (p.Asp946Asn) rs139440017
NM_018714.3(COG1):c.2848C>T (p.Pro950Ser)
NM_018714.3(COG1):c.2900C>G (p.Pro967Arg) rs147588256
NM_018714.3(COG1):c.2929A>G (p.Ser977Gly) rs757086937
NM_018714.3(COG1):c.427G>A (p.Ala143Thr)
NM_018714.3(COG1):c.494G>A (p.Arg165Gln)
NM_018714.3(COG1):c.542_543inv (p.Ala181Val)
NM_018714.3(COG1):c.85G>A (p.Glu29Lys) rs1032371996
NM_018714.3(COG1):c.985G>A (p.Val329Ile)
NM_018714.3(COG1):c.988G>A (p.Glu330Lys) rs779924491

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