ClinVar Miner

List of variants in gene COG5 reported as uncertain significance for COG5-CDG

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP
NM_006348.5(COG5):c.*157T>C
NM_006348.5(COG5):c.*162T>C
NM_006348.5(COG5):c.*165C>T
NM_006348.5(COG5):c.*220G>A
NM_006348.5(COG5):c.*237T>C
NM_006348.5(COG5):c.*247T>C rs886061872
NM_006348.5(COG5):c.*306C>A
NM_006348.5(COG5):c.*409T>C
NM_006348.5(COG5):c.*437A>G
NM_006348.5(COG5):c.*468C>A rs886061871
NM_006348.5(COG5):c.*498T>G
NM_006348.5(COG5):c.*52G>A
NM_006348.5(COG5):c.*550A>G
NM_006348.5(COG5):c.*589G>A
NM_006348.5(COG5):c.*606A>G rs772464238
NM_006348.5(COG5):c.*612G>A
NM_006348.5(COG5):c.*617A>C
NM_006348.5(COG5):c.*622C>T
NM_006348.5(COG5):c.*634T>C
NM_006348.5(COG5):c.*862C>G
NM_006348.5(COG5):c.*865C>G
NM_006348.5(COG5):c.*867A>G
NM_006348.5(COG5):c.*89A>G
NM_006348.5(COG5):c.*8A>C rs750444305
NM_006348.5(COG5):c.*986G>A rs886061870
NM_006348.5(COG5):c.1026+4T>C rs748372051
NM_006348.5(COG5):c.1037C>T (p.Pro346Leu) rs143773937
NM_006348.5(COG5):c.1078C>G (p.Leu360Val) rs762031095
NM_006348.5(COG5):c.1160G>A (p.Arg387His) rs35258567
NM_006348.5(COG5):c.117C>T (p.Asn39=) rs138518242
NM_006348.5(COG5):c.1211A>G (p.Gln404Arg) rs189560910
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys) rs41276187
NM_006348.5(COG5):c.1262A>G (p.His421Arg) rs35393416
NM_006348.5(COG5):c.1266G>C (p.Met422Ile)
NM_006348.5(COG5):c.1302G>T (p.Lys434Asn)
NM_006348.5(COG5):c.1314-3C>T
NM_006348.5(COG5):c.1349A>G (p.Tyr450Cys) rs143592207
NM_006348.5(COG5):c.1535C>G (p.Ala512Gly) rs1037950511
NM_006348.5(COG5):c.15C>G (p.Gly5=) rs202123650
NM_006348.5(COG5):c.1686+7A>G rs373280339
NM_006348.5(COG5):c.1725G>A (p.Glu575=) rs145128460
NM_006348.5(COG5):c.1750-14T>G rs199592702
NM_006348.5(COG5):c.1756C>T (p.His586Tyr) rs151129529
NM_006348.5(COG5):c.1776T>C (p.Ala592=) rs142970891
NM_006348.5(COG5):c.1780C>A (p.Gln594Lys)
NM_006348.5(COG5):c.17G>A (p.Gly6Asp)
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr) rs142433421
NM_006348.5(COG5):c.184G>A (p.Ala62Thr) rs375537266
NM_006348.5(COG5):c.185C>T (p.Ala62Val) rs886061875
NM_006348.5(COG5):c.1900A>T (p.Met634Leu)
NM_006348.5(COG5):c.1901T>C (p.Met634Thr)
NM_006348.5(COG5):c.1903A>G (p.Lys635Glu) rs140418178
NM_006348.5(COG5):c.1906G>A (p.Glu636Lys)
NM_006348.5(COG5):c.2009T>C (p.Val670Ala) rs773647928
NM_006348.5(COG5):c.2023C>T (p.Arg675Cys) rs149517266
NM_006348.5(COG5):c.2030C>A (p.Ala677Asp)
NM_006348.5(COG5):c.2038A>T (p.Ile680Leu)
NM_006348.5(COG5):c.2124A>G (p.Arg708=) rs148020994
NM_006348.5(COG5):c.2168+9G>A rs746107488
NM_006348.5(COG5):c.2212G>T (p.Ala738Ser)
NM_006348.5(COG5):c.2271C>T (p.Pro757=) rs145648013
NM_006348.5(COG5):c.2317C>T (p.Arg773Cys)
NM_006348.5(COG5):c.2347T>C (p.Ser783Pro) rs773449359
NM_006348.5(COG5):c.2401T>C (p.Ser801Pro) rs141942249
NM_006348.5(COG5):c.2456A>C (p.Gln819Pro) rs34100214
NM_006348.5(COG5):c.264A>G (p.Ala88=) rs113660545
NM_006348.5(COG5):c.268G>A (p.Ala90Thr)
NM_006348.5(COG5):c.292+14A>G
NM_006348.5(COG5):c.298C>T (p.Leu100Phe) rs150351852
NM_006348.5(COG5):c.314C>T (p.Thr105Met) rs755030238
NM_006348.5(COG5):c.376A>C (p.Asn126His)
NM_006348.5(COG5):c.37C>T (p.Leu13Phe)
NM_006348.5(COG5):c.454T>C (p.Leu152=)
NM_006348.5(COG5):c.50G>T (p.Gly17Val) rs139763861
NM_006348.5(COG5):c.538+10T>G rs769195866
NM_006348.5(COG5):c.551A>G (p.Gln184Arg) rs753818358
NM_006348.5(COG5):c.611_613delinsTAGTGGAATT (p.Ala204fs) rs1563018529
NM_006348.5(COG5):c.669+10A>G rs886061874
NM_006348.5(COG5):c.67G>C (p.Ala23Pro) rs146391348
NM_006348.5(COG5):c.70A>G (p.Thr24Ala)
NM_006348.5(COG5):c.768A>T (p.Leu256Phe) rs376958885
NM_006348.5(COG5):c.790T>A (p.Leu264Ile) rs142276972
NM_006348.5(COG5):c.795C>T (p.Asp265=) rs372226278
NM_006348.5(COG5):c.81del (p.Glu27fs) rs777937112
NM_006348.5(COG5):c.836-11C>T rs886061873
NM_006348.5(COG5):c.836-9C>T
NM_006348.5(COG5):c.858G>A (p.Met286Ile)
NM_006348.5(COG5):c.907A>G (p.Met303Val) rs1001137054
NM_006348.5(COG5):c.94+3A>G rs374535796
NM_006348.5(COG5):c.948+12A>T
NM_006348.5(COG5):c.948+5A>G
NM_006348.5(COG5):c.959T>C (p.Leu320Pro) rs1584729488
NM_006348.5(COG5):c.963A>G (p.Gln321=) rs375846157

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