ClinVar Miner

List of variants reported as uncertain significance for COG5-congenital disorder of glycosylation by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_181581.3(DUS4L):c.-110-94C>A rs145603444 0.00625
NM_006348.5(COG5):c.*437A>G rs193127052 0.00506
NM_012257.4(HBP1):c.*448C>T rs147954001 0.00452
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys) rs41276187 0.00389
NM_006348.5(COG5):c.1262A>G (p.His421Arg) rs35393416 0.00266
NM_006348.5(COG5):c.790T>A (p.Leu264Ile) rs142276972 0.00201
NM_012257.4(HBP1):c.*343C>T rs534075932 0.00184
NM_006348.5(COG5):c.50G>T (p.Gly17Val) rs139763861 0.00172
NM_006348.5(COG5):c.*157T>C rs188638963 0.00160
NM_012257.4(HBP1):c.*617C>A rs183289135 0.00155
NM_006348.5(COG5):c.1776T>C (p.Ala592=) rs142970891 0.00142
NM_006348.5(COG5):c.2124A>G (p.Arg708=) rs148020994 0.00135
NM_006348.5(COG5):c.1160G>A (p.Arg387His) rs35258567 0.00106
NM_006348.5(COG5):c.298C>T (p.Leu100Phe) rs150351852 0.00096
NM_006348.5(COG5):c.*550A>G rs538476088 0.00070
NM_006348.5(COG5):c.1037C>T (p.Pro346Leu) rs143773937 0.00067
NM_006348.5(COG5):c.1211A>G (p.Gln404Arg) rs189560910 0.00056
NM_006348.5(COG5):c.2271C>T (p.Pro757=) rs145648013 0.00039
NM_006348.5(COG5):c.1750-14T>G rs199592702 0.00038
NM_006348.5(COG5):c.2023C>T (p.Arg675Cys) rs149517266 0.00036
NM_006348.5(COG5):c.264A>G (p.Ala88=) rs113660545 0.00036
NM_006348.5(COG5):c.15C>G (p.Gly5=) rs202123650 0.00035
NM_012257.4(HBP1):c.*636C>T rs551727433 0.00034
NM_006348.5(COG5):c.117C>T (p.Asn39=) rs138518242 0.00029
NM_012257.4(HBP1):c.*745T>C rs190095596 0.00028
NM_006348.5(COG5):c.2401T>C (p.Ser801Pro) rs141942249 0.00027
NM_012257.4(HBP1):c.*365T>C rs773755170 0.00022
NM_006348.5(COG5):c.*865C>G rs540645627 0.00020
NM_006348.5(COG5):c.1725G>A (p.Glu575=) rs145128460 0.00017
NM_006348.5(COG5):c.1349A>G (p.Tyr450Cys) rs143592207 0.00016
NM_006348.5(COG5):c.454T>C (p.Leu152=) rs200107630 0.00016
NM_006348.5(COG5):c.67G>C (p.Ala23Pro) rs146391348 0.00016
NM_181581.3(DUS4L):c.-323G>A rs555908807 0.00016
NM_006348.5(COG5):c.1686+7A>G rs373280339 0.00013
NM_006348.5(COG5):c.*606A>G rs772464238 0.00009
NM_006348.5(COG5):c.*986G>A rs886061870 0.00009
NM_006348.5(COG5):c.292+14A>G rs374007477 0.00009
NM_006348.5(COG5):c.795C>T (p.Asp265=) rs372226278 0.00009
NM_012257.4(HBP1):c.*842A>G rs530897270 0.00009
NM_006348.5(COG5):c.1780C>A (p.Gln594Lys) rs754614179 0.00008
NM_006348.5(COG5):c.768A>T (p.Leu256Phe) rs376958885 0.00008
NM_006348.5(COG5):c.2168+9G>A rs746107488 0.00006
NM_006348.5(COG5):c.2456A>C (p.Gln819Pro) rs34100214 0.00006
NM_006348.5(COG5):c.*617A>C rs894757078 0.00003
NM_006348.5(COG5):c.*162T>C rs1000375620 0.00002
NM_006348.5(COG5):c.*247T>C rs886061872 0.00002
NM_006348.5(COG5):c.*409T>C rs912460078 0.00002
NM_006348.5(COG5):c.*634T>C rs527645957 0.00002
NM_006348.5(COG5):c.*867A>G rs1003504113 0.00002
NM_006348.5(COG5):c.1906G>A (p.Glu636Lys) rs771961452 0.00002
NM_006348.5(COG5):c.2009T>C (p.Val670Ala) rs773647928 0.00002
NM_006348.5(COG5):c.2317C>T (p.Arg773Cys) rs767217808 0.00002
NM_006348.5(COG5):c.268G>A (p.Ala90Thr) rs773864216 0.00002
NM_006348.5(COG5):c.*622C>T rs548613467 0.00001
NM_006348.5(COG5):c.*89A>G rs1798504316 0.00001
NM_006348.5(COG5):c.*8A>C rs750444305 0.00001
NM_006348.5(COG5):c.17G>A (p.Gly6Asp) rs919495599 0.00001
NM_006348.5(COG5):c.185C>T (p.Ala62Val) rs886061875 0.00001
NM_006348.5(COG5):c.37C>T (p.Leu13Phe) rs1429157275 0.00001
NM_006348.5(COG5):c.538+10T>G rs769195866 0.00001
NM_006348.5(COG5):c.836-9C>T rs757452204 0.00001
NM_006348.5(COG5):c.858G>A (p.Met286Ile) rs1325740175 0.00001
NM_006348.5(COG5):c.94+3A>G rs374535796 0.00001
NM_012257.4(HBP1):c.*1088C>T rs886061869 0.00001
NM_012257.4(HBP1):c.*601A>G rs886061867 0.00001
NM_181581.3(DUS4L):c.-111+147G>C rs886061881 0.00001
NM_006348.5(COG5):c.*165C>T rs1798496835
NM_006348.5(COG5):c.*220G>A rs1281689688
NM_006348.5(COG5):c.*237T>C rs577491628
NM_006348.5(COG5):c.*306C>A rs1798486114
NM_006348.5(COG5):c.*468C>A rs886061871
NM_006348.5(COG5):c.*498T>G rs1798468428
NM_006348.5(COG5):c.*52G>A rs937117794
NM_006348.5(COG5):c.*589G>A rs1422526244
NM_006348.5(COG5):c.*612G>A rs6958137
NM_006348.5(COG5):c.*862C>G rs1258415041
NM_006348.5(COG5):c.1302G>T (p.Lys434Asn) rs200021706
NM_006348.5(COG5):c.1900A>T (p.Met634Leu) rs746657630
NM_006348.5(COG5):c.1901T>C (p.Met634Thr) rs1038024684
NM_006348.5(COG5):c.2030C>A (p.Ala677Asp) rs778785040
NM_006348.5(COG5):c.376A>C (p.Asn126His) rs1802592284
NM_006348.5(COG5):c.611_613delinsTAGTGGAATT (p.Ala204fs) rs1563018529
NM_006348.5(COG5):c.669+10A>G rs886061874
NM_006348.5(COG5):c.81del (p.Glu27fs) rs777937112
NM_006348.5(COG5):c.836-11C>T rs886061873
NM_006348.5(COG5):c.948+12A>T rs763696416
NM_012257.4(HBP1):c.*659T>C rs1798368433
NM_181581.3(DUS4L):c.-111+71G>A rs886061879
NM_181581.3(DUS4L):c.-111+72G>C rs886061880
NM_181581.3(DUS4L):c.-162C>A rs886061877
NM_181581.3(DUS4L):c.-186G>A rs778346804
NM_181581.3(DUS4L):c.-275C>G rs541648926
NM_181581.3(DUS4L):c.-275C>T rs541648926
NM_181581.3(DUS4L):c.-301T>A rs886061876
NM_181581.3(DUS4L):c.-332A>T rs748922374

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