ClinVar Miner

List of variants studied for COG1-CDG by Invitae

Included ClinVar conditions (1):
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Total variants: 35
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HGVS dbSNP
NM_018714.3(COG1):c.1049C>T (p.Thr350Met) rs117344829
NM_018714.3(COG1):c.1071G>T (p.Met357Ile)
NM_018714.3(COG1):c.1117G>A (p.Val373Met) rs201886877
NM_018714.3(COG1):c.1230G>A (p.Pro410=) rs148502827
NM_018714.3(COG1):c.1243G>C (p.Glu415Gln)
NM_018714.3(COG1):c.1428G>A (p.Trp476Ter)
NM_018714.3(COG1):c.1710G>A (p.Leu570=) rs139407216
NM_018714.3(COG1):c.1712G>A (p.Arg571Gln) rs141750466
NM_018714.3(COG1):c.1893C>T (p.Cys631=) rs80232475
NM_018714.3(COG1):c.2183_2184delinsCA (p.Gly728Ala) rs1599328658
NM_018714.3(COG1):c.2222C>A (p.Pro741Gln)
NM_018714.3(COG1):c.2231A>G (p.Tyr744Cys) rs7208207
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.2620-10T>G rs144989249
NM_018714.3(COG1):c.2682C>T (p.Asn894=) rs781686684
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.34C>T (p.Arg12Trp) rs201263432
NM_018714.3(COG1):c.401C>T (p.Ser134Leu) rs146066919
NM_018714.3(COG1):c.402G>A (p.Ser134=) rs765699770
NM_018714.3(COG1):c.522T>C (p.Pro174=) rs75460067
NM_018714.3(COG1):c.529A>G (p.Ile177Val) rs150001655
NM_018714.3(COG1):c.542_543inv (p.Ala181Val)
NM_018714.3(COG1):c.613G>A (p.Asp205Asn) rs141474045
NM_018714.3(COG1):c.743-10C>G rs185592690
NM_018714.3(COG1):c.775G>T (p.Val259Leu) rs139304974
NM_018714.3(COG1):c.85G>A (p.Glu29Lys) rs1032371996
NM_018714.3(COG1):c.903G>C (p.Gln301His) rs117208167
NM_018714.3(COG1):c.96G>A (p.Gly32=) rs143964203
NM_018714.3(COG1):c.988G>A (p.Glu330Lys) rs779924491

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