ClinVar Miner

List of variants studied for obsolete blood group, 1 system by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 89
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_145649.5(GCNT2):c.925+25913G>T rs12660274 0.17987
NM_001491.3(GCNT2):c.216C>T (p.Cys72=) rs2230906 0.10090
NM_145649.5(GCNT2):c.*1174T>C rs13210512 0.08322
NM_145649.5(GCNT2):c.*671C>T rs6938748 0.04080
NM_145649.5(GCNT2):c.*2520C>A rs9460952 0.04060
NM_145649.5(GCNT2):c.*1733T>G rs76447432 0.03178
NM_145649.5(GCNT2):c.*682G>C rs80071169 0.03020
NM_145649.5(GCNT2):c.*105C>T rs113642669 0.02912
NM_145649.5(GCNT2):c.925+26270G>C rs564517 0.01811
NM_145649.5(GCNT2):c.*939G>T rs9467011 0.01772
NM_001491.3(GCNT2):c.330G>A (p.Arg110=) rs35537333 0.01705
NM_145649.5(GCNT2):c.*81G>A rs2230907 0.01112
NM_145649.5(GCNT2):c.*2452G>C rs114854786 0.01106
NM_145649.5(GCNT2):c.*768G>A rs73437198 0.01075
NM_145649.5(GCNT2):c.*225G>A rs6936681 0.00838
NM_145649.5(GCNT2):c.*1317G>A rs137926677 0.00716
NM_001491.3(GCNT2):c.687T>C (p.Tyr229=) rs35318346 0.00670
NM_001491.3(GCNT2):c.8T>C (p.Leu3Ser) rs75648279 0.00632
NM_145649.5(GCNT2):c.*398T>A rs75940068 0.00568
NM_145649.5(GCNT2):c.*1112G>A rs6899538 0.00398
NM_145649.5(GCNT2):c.*196A>G rs77170997 0.00354
NM_145649.5(GCNT2):c.*2026A>G rs184105266 0.00226
NM_145649.5(GCNT2):c.*104A>G rs151338305 0.00201
NM_001491.3(GCNT2):c.630T>G (p.Gly210=) rs148372193 0.00167
NM_145649.5(GCNT2):c.925+26075C>T rs530793153 0.00131
NM_145649.5(GCNT2):c.*93G>A rs556902601 0.00108
NM_001491.3(GCNT2):c.254C>G (p.Pro85Arg) rs17637756 0.00101
NM_145649.5(GCNT2):c.925+25945G>A rs761361450 0.00041
NM_145649.5(GCNT2):c.925+26536A>T rs540572080 0.00030
NM_145649.5(GCNT2):c.925+26357G>T rs545491917 0.00026
NM_145649.5(GCNT2):c.*19A>G rs200119543 0.00023
NM_145649.5(GCNT2):c.*467T>C rs762078028 0.00023
NM_001491.3(GCNT2):c.761A>G (p.His254Arg) rs138593604 0.00020
NM_145649.5(GCNT2):c.*2136G>A rs975353285 0.00017
NM_145649.5(GCNT2):c.*1362T>G rs768579867 0.00014
NM_145649.5(GCNT2):c.*189T>A rs956631549 0.00014
NM_145649.5(GCNT2):c.*130C>T rs548580728 0.00013
NM_145649.5(GCNT2):c.*2174G>A rs539707774 0.00011
NM_145649.5(GCNT2):c.*1242T>C rs549548523 0.00009
NM_001491.3(GCNT2):c.476A>G (p.Tyr159Cys) rs147047890 0.00007
NM_145649.5(GCNT2):c.1156G>A (p.Glu386Lys) rs748803778 0.00007
NM_001491.3(GCNT2):c.442G>A (p.Ala148Thr) rs142308624 0.00006
NM_145649.5(GCNT2):c.*2482T>C rs1011838980 0.00006
NM_145649.5(GCNT2):c.*608T>G rs1003664187 0.00004
NM_145649.5(GCNT2):c.1038T>C (p.Ile346=) rs747738500 0.00004
NM_145649.5(GCNT2):c.925+26208G>A rs886060902 0.00004
NM_001491.3(GCNT2):c.517A>G (p.Arg173Gly) rs560637463 0.00003
NM_145649.5(GCNT2):c.*637A>G rs886060905 0.00003
NM_145649.5(GCNT2):c.1018+15C>G rs78667015 0.00003
NM_145649.5(GCNT2):c.1185G>A (p.Ala395=) rs139955928 0.00003
NM_145649.5(GCNT2):c.*1074A>G rs569178362 0.00002
NM_145649.5(GCNT2):c.*916A>C rs752036164 0.00002
NM_001491.3(GCNT2):c.303C>T (p.Ile101=) rs569056707 0.00001
NM_001491.3(GCNT2):c.344T>C (p.Ile115Thr) rs993886125 0.00001
NM_001491.3(GCNT2):c.553G>A (p.Val185Ile) rs764763524 0.00001
NM_145649.5(GCNT2):c.*1857G>A rs911372197 0.00001
NM_145649.5(GCNT2):c.*1883T>G rs932413752 0.00001
NM_145649.5(GCNT2):c.*2503G>A rs866065380 0.00001
NM_145649.5(GCNT2):c.*989C>T rs575747661 0.00001
NM_145649.5(GCNT2):c.1126A>G (p.Thr376Ala) rs772150782 0.00001
NM_145649.5(GCNT2):c.925+26039G>A rs886060901 0.00001
NM_145649.5(GCNT2):c.925+27511G>A rs979052979 0.00001
NM_145649.5(GCNT2):c.925+27519C>T rs919544382 0.00001
NM_001491.3(GCNT2):c.169_187dup (p.Lys63fs) rs773702023
NM_001491.3(GCNT2):c.389C>G (p.Ala130Gly) rs1762731450
NM_001491.3(GCNT2):c.552C>G (p.Tyr184Ter) rs199770755
NM_001491.3(GCNT2):c.769A>T (p.Thr257Ser) rs1762757852
NM_001491.3(GCNT2):c.772A>G (p.Ile258Val) rs1191785910
NM_145649.5(GCNT2):c.*1314C>T rs886060908
NM_145649.5(GCNT2):c.*1386C>G rs746777573
NM_145649.5(GCNT2):c.*1432C>A rs578022959
NM_145649.5(GCNT2):c.*1840A>G rs1766356544
NM_145649.5(GCNT2):c.*1862G>C rs1766357890
NM_145649.5(GCNT2):c.*1956C>G rs886060910
NM_145649.5(GCNT2):c.*1990C>T rs760044966
NM_145649.5(GCNT2):c.*2224G>C rs886060911
NM_145649.5(GCNT2):c.*2330G>T rs145879560
NM_145649.5(GCNT2):c.*2521C>T rs190656787
NM_145649.5(GCNT2):c.*2529A>C rs886060913
NM_145649.5(GCNT2):c.*2668A>G rs1561847176
NM_145649.5(GCNT2):c.*272T>A rs1766281678
NM_145649.5(GCNT2):c.*592A>G rs886060904
NM_145649.5(GCNT2):c.*669C>T rs1488949688
NM_145649.5(GCNT2):c.1191dup (p.Pro398fs) rs771783647
NM_145649.5(GCNT2):c.925+26049C>T rs974874626
NM_145649.5(GCNT2):c.925+26059A>G rs560605815
NM_145649.5(GCNT2):c.925+26138C>T rs778215474
NM_145649.5(GCNT2):c.925+26157C>G rs1762681388
NM_145649.5(GCNT2):c.925+26338G>A rs1291079995

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.