ClinVar Miner

List of variants in gene GCNT2 studied for obsolete blood group, 1 system

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 92
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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_145649.5(GCNT2):c.683G>A (p.Arg228Gln) rs137853340 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.259_262del (p.Ser87fs) rs1085307067
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.505G>A (p.Ala169Thr) rs137853339
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

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