ClinVar Miner

List of variants studied for B3GALT6-congenital disorder of glycosylation

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 292
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_080605.4(B3GALT6):c.138C>T (p.Ser46=) rs190796582 0.15534
NM_080605.4(B3GALT6):c.522G>C (p.Glu174Asp) rs12085009 0.10007
NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile) rs142820961 0.00455
NM_080605.4(B3GALT6):c.107C>T (p.Pro36Leu) rs568623476 0.00202
NM_080605.4(B3GALT6):c.909G>A (p.Glu303=) rs368507303 0.00190
NM_080605.4(B3GALT6):c.110G>A (p.Gly37Glu) rs892958562 0.00109
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val) rs200646244 0.00065
NM_080605.4(B3GALT6):c.853G>A (p.Asp285Asn) rs201547600 0.00061
NM_080605.4(B3GALT6):c.483G>A (p.Ala161=) rs373668725 0.00050
NM_080605.4(B3GALT6):c.485G>A (p.Arg162Gln) rs376811907 0.00045
NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln) rs1131691530 0.00041
NM_080605.4(B3GALT6):c.585G>T (p.Gly195=) rs562616873 0.00036
NM_080605.4(B3GALT6):c.834G>A (p.Thr278=) rs368078922 0.00029
NM_080605.4(B3GALT6):c.388G>A (p.Glu130Lys) rs777778007 0.00020
NM_080605.4(B3GALT6):c.604G>A (p.Ala202Thr) rs377718922 0.00013
NM_080605.4(B3GALT6):c.477C>T (p.Ser159=) rs370430307 0.00012
NM_080605.4(B3GALT6):c.582G>T (p.Pro194=) rs532162467 0.00012
NM_080605.4(B3GALT6):c.818A>G (p.Asn273Ser) rs759357299 0.00011
NM_080605.4(B3GALT6):c.895C>A (p.Leu299Met) rs374645024 0.00011
NM_080605.4(B3GALT6):c.16C>A (p.Arg6=) rs397514722 0.00010
NM_080605.4(B3GALT6):c.503C>T (p.Ala168Val) rs766519442 0.00010
NM_080605.4(B3GALT6):c.324C>A (p.Ala108=) rs764859016 0.00009
NM_080605.4(B3GALT6):c.884G>T (p.Arg295Leu) rs756566189 0.00009
NM_080605.4(B3GALT6):c.35C>G (p.Ala12Gly) rs900539403 0.00008
NM_080605.4(B3GALT6):c.508C>T (p.Leu170=) rs759484127 0.00007
NM_080605.4(B3GALT6):c.753G>A (p.Pro251=) rs370328225 0.00007
NM_080605.4(B3GALT6):c.768G>A (p.Arg256=) rs779285702 0.00006
NM_080605.4(B3GALT6):c.409C>G (p.Leu137Val) rs142133113 0.00005
NM_080605.4(B3GALT6):c.436C>T (p.His146Tyr) rs558669120 0.00005
NM_080605.4(B3GALT6):c.859C>T (p.Leu287=) rs766907387 0.00005
NM_080605.4(B3GALT6):c.10C>T (p.Leu4=) rs928368471 0.00004
NM_080605.4(B3GALT6):c.1A>G (p.Met1Val) rs786200938 0.00004
NM_080605.4(B3GALT6):c.313G>C (p.Glu105Gln) rs1199531500 0.00004
NM_080605.4(B3GALT6):c.630G>A (p.Leu210=) rs547484259 0.00004
NM_080605.4(B3GALT6):c.676C>T (p.His226Tyr) rs746174922 0.00004
NM_080605.4(B3GALT6):c.886G>A (p.Glu296Lys) rs1267101770 0.00004
NM_080605.4(B3GALT6):c.147C>A (p.Pro49=) rs1204837935 0.00003
NM_080605.4(B3GALT6):c.175C>T (p.Leu59=) rs963500907 0.00003
NM_080605.4(B3GALT6):c.367C>T (p.Pro123Ser) rs1057522880 0.00003
NM_080605.4(B3GALT6):c.576C>T (p.Val192=) rs762952410 0.00003
NM_080605.4(B3GALT6):c.587G>T (p.Gly196Val) rs778444849 0.00003
NM_080605.4(B3GALT6):c.667G>A (p.Asp223Asn) rs548246291 0.00003
NM_080605.4(B3GALT6):c.833C>T (p.Thr278Met) rs775252357 0.00003
NM_080605.4(B3GALT6):c.145C>A (p.Pro49Thr) rs1490617023 0.00002
NM_080605.4(B3GALT6):c.252C>T (p.Arg84=) rs933332160 0.00002
NM_080605.4(B3GALT6):c.31C>T (p.Arg11Trp) rs1039242906 0.00002
NM_080605.4(B3GALT6):c.422C>T (p.Ala141Val) rs762606889 0.00002
NM_080605.4(B3GALT6):c.520G>C (p.Glu174Gln) rs750182732 0.00002
NM_080605.4(B3GALT6):c.538C>T (p.Arg180Cys) rs886138913 0.00002
NM_080605.4(B3GALT6):c.554T>G (p.Phe185Cys) rs771306094 0.00002
NM_080605.4(B3GALT6):c.750G>A (p.Ala250=) rs1200418637 0.00002
NM_080605.4(B3GALT6):c.7C>T (p.Leu3=) rs981250392 0.00002
NM_080605.4(B3GALT6):c.149C>A (p.Pro50His) rs1156566104 0.00001
NM_080605.4(B3GALT6):c.171C>T (p.Ala57=) rs1638537998 0.00001
NM_080605.4(B3GALT6):c.189G>A (p.Val63=) rs1471843111 0.00001
NM_080605.4(B3GALT6):c.234C>T (p.Ser78=) rs1305896128 0.00001
NM_080605.4(B3GALT6):c.273G>C (p.Trp91Cys) rs924068844 0.00001
NM_080605.4(B3GALT6):c.291C>T (p.Gly97=) rs1457990186 0.00001
NM_080605.4(B3GALT6):c.353del (p.Asp118fs) rs750088530 0.00001
NM_080605.4(B3GALT6):c.354C>T (p.Asp118=) rs767598361 0.00001
NM_080605.4(B3GALT6):c.366G>A (p.Leu122=) rs750669776 0.00001
NM_080605.4(B3GALT6):c.387C>T (p.Tyr129=) rs1402832925 0.00001
NM_080605.4(B3GALT6):c.414C>T (p.Ala138=) rs1489962435 0.00001
NM_080605.4(B3GALT6):c.46C>T (p.Leu16=) rs1057524131 0.00001
NM_080605.4(B3GALT6):c.503C>G (p.Ala168Gly) rs766519442 0.00001
NM_080605.4(B3GALT6):c.511C>T (p.Arg171Cys) rs765337103 0.00001
NM_080605.4(B3GALT6):c.526G>T (p.Ala176Ser) rs748952705 0.00001
NM_080605.4(B3GALT6):c.529C>T (p.Arg177Cys) rs1260565985 0.00001
NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys) rs1314046622 0.00001
NM_080605.4(B3GALT6):c.549G>A (p.Trp183Ter) rs760986725 0.00001
NM_080605.4(B3GALT6):c.552C>T (p.Gly184=) rs1256336773 0.00001
NM_080605.4(B3GALT6):c.613C>G (p.Leu205Val) rs1422897152 0.00001
NM_080605.4(B3GALT6):c.628C>T (p.Leu210=) rs1300221753 0.00001
NM_080605.4(B3GALT6):c.631C>T (p.Pro211Ser) rs760685441 0.00001
NM_080605.4(B3GALT6):c.651C>T (p.Gly217=) rs764901184 0.00001
NM_080605.4(B3GALT6):c.655G>A (p.Val219Met) rs1557526653 0.00001
NM_080605.4(B3GALT6):c.664G>C (p.Ala222Pro) rs777233616 0.00001
NM_080605.4(B3GALT6):c.694C>T (p.Arg232Cys) rs397514717 0.00001
NM_080605.4(B3GALT6):c.699C>T (p.Asp233=) rs766274999 0.00001
NM_080605.4(B3GALT6):c.703C>T (p.Leu235=) rs764915085 0.00001
NM_080605.4(B3GALT6):c.731C>T (p.Ser244Phe) rs1381077083 0.00001
NM_080605.4(B3GALT6):c.783C>T (p.Arg261=) rs1031675737 0.00001
NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp) rs374677519 0.00001
NM_080605.4(B3GALT6):c.803C>T (p.Ser268Phe) rs1638568014 0.00001
NM_080605.4(B3GALT6):c.829G>T (p.Val277Leu) rs1216124589 0.00001
NM_080605.4(B3GALT6):c.871G>C (p.Ala291Pro) rs1434211258 0.00001
NM_080605.4(B3GALT6):c.883C>T (p.Arg295Cys) rs1284101388 0.00001
NM_080605.4(B3GALT6):c.929A>G (p.Tyr310Cys) rs1250638849 0.00001
NM_080605.4(B3GALT6):c.951G>A (p.Pro317=) rs1441211766 0.00001
NM_080605.4(B3GALT6):c.957G>T (p.Ser319=) rs914725170 0.00001
NC_000001.10:g.(?_1146915)_(1168668_?)dup
NC_000001.10:g.(?_1167659)_(1168648_?)dup
NC_000001.10:g.(?_861322)_(3768971_?)del
NC_000001.10:g.(?_948954)_(1284445_?)dup
NC_000001.11:g.(?_1013554)_(1313808_?)del
NC_000001.11:g.1232202_1232288del
NM_080605.4(B3GALT6):c.101C>T (p.Ala34Val)
NM_080605.4(B3GALT6):c.102C>G (p.Ala34=) rs1416591096
NM_080605.4(B3GALT6):c.109G>A (p.Gly37Arg) rs867336520
NM_080605.4(B3GALT6):c.109G>C (p.Gly37Arg) rs867336520
NM_080605.4(B3GALT6):c.10C>G (p.Leu4Val)
NM_080605.4(B3GALT6):c.116C>T (p.Pro39Leu)
NM_080605.4(B3GALT6):c.128C>T (p.Ser43Leu)
NM_080605.4(B3GALT6):c.129G>A (p.Ser43=)
NM_080605.4(B3GALT6):c.12G>A (p.Leu4=) rs868472493
NM_080605.4(B3GALT6):c.13C>T (p.Arg5Trp) rs1638529780
NM_080605.4(B3GALT6):c.140C>T (p.Pro47Leu)
NM_080605.4(B3GALT6):c.141G>A (p.Pro47=)
NM_080605.4(B3GALT6):c.141_142delinsTT (p.Pro48Ser)
NM_080605.4(B3GALT6):c.148C>A (p.Pro50Thr)
NM_080605.4(B3GALT6):c.148C>G (p.Pro50Ala) rs1249919137
NM_080605.4(B3GALT6):c.149C>G (p.Pro50Arg) rs1156566104
NM_080605.4(B3GALT6):c.150dup (p.Ala51fs) rs1638536337
NM_080605.4(B3GALT6):c.156C>T (p.Pro52=)
NM_080605.4(B3GALT6):c.160C>G (p.Arg54Gly) rs1035452129
NM_080605.4(B3GALT6):c.163G>C (p.Ala55Pro) rs950488335
NM_080605.4(B3GALT6):c.165C>T (p.Ala55=) rs1278117182
NM_080605.4(B3GALT6):c.168C>T (p.Ala56=)
NM_080605.4(B3GALT6):c.16C>T (p.Arg6Trp) rs397514722
NM_080605.4(B3GALT6):c.175C>G (p.Leu59Val) rs963500907
NM_080605.4(B3GALT6):c.178G>A (p.Ala60Thr) rs1638538307
NM_080605.4(B3GALT6):c.193A>G (p.Ser65Gly) rs397514719
NM_080605.4(B3GALT6):c.193A>T (p.Ser65Cys)
NM_080605.4(B3GALT6):c.194G>C (p.Ser65Thr) rs2100993440
NM_080605.4(B3GALT6):c.198G>A (p.Ala66=)
NM_080605.4(B3GALT6):c.199C>A (p.Pro67Thr)
NM_080605.4(B3GALT6):c.199C>T (p.Pro67Ser)
NM_080605.4(B3GALT6):c.19_30dup (p.Ala7_Arg10dup) rs1553151150
NM_080605.4(B3GALT6):c.1A>C (p.Met1Leu) rs786200938
NM_080605.4(B3GALT6):c.200C>T (p.Pro67Leu) rs397514720
NM_080605.4(B3GALT6):c.201_210del (p.Arg68fs) rs2100993446
NM_080605.4(B3GALT6):c.210C>A (p.Ala70=) rs1179179554
NM_080605.4(B3GALT6):c.213G>A (p.Glu71=)
NM_080605.4(B3GALT6):c.217_231dup (p.Arg73_Arg77dup) rs1638539426
NM_080605.4(B3GALT6):c.227T>G (p.Ile76Ser) rs1436567011
NM_080605.4(B3GALT6):c.227del (p.Ile76fs) rs1638539773
NM_080605.4(B3GALT6):c.228C>G (p.Ile76Met) rs1174370874
NM_080605.4(B3GALT6):c.22TGGCGGCGGCGGGCG[3] (p.8WRRRA[3]) rs1553151151
NM_080605.4(B3GALT6):c.22_36dup (p.Trp8_Ala12dup) rs1553151151
NM_080605.4(B3GALT6):c.235A>G (p.Thr79Ala)
NM_080605.4(B3GALT6):c.236C>A (p.Thr79Lys)
NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg) rs1409554936
NM_080605.4(B3GALT6):c.252C>G (p.Arg84=)
NM_080605.4(B3GALT6):c.255G>T (p.Gly85=) rs1372150716
NM_080605.4(B3GALT6):c.261G>A (p.Pro87=)
NM_080605.4(B3GALT6):c.261G>T (p.Pro87=)
NM_080605.4(B3GALT6):c.26G>T (p.Arg9Leu)
NM_080605.4(B3GALT6):c.276_291dup (p.Thr98fs) rs2100993592
NM_080605.4(B3GALT6):c.285C>A (p.Ala95=)
NM_080605.4(B3GALT6):c.285C>G (p.Ala95=) rs1557526065
NM_080605.4(B3GALT6):c.285C>T (p.Ala95=)
NM_080605.4(B3GALT6):c.2T>A (p.Met1Lys) rs969701761
NM_080605.4(B3GALT6):c.2T>C (p.Met1Thr) rs969701761
NM_080605.4(B3GALT6):c.308C>T (p.Ala103Val)
NM_080605.4(B3GALT6):c.30G>C (p.Arg10=)
NM_080605.4(B3GALT6):c.30_39dup (p.Leu14fs) rs2100993072
NM_080605.4(B3GALT6):c.312G>C (p.Glu104Asp)
NM_080605.4(B3GALT6):c.324C>T (p.Ala108=)
NM_080605.4(B3GALT6):c.331C>A (p.Arg111=)
NM_080605.4(B3GALT6):c.336G>A (p.Glu112=)
NM_080605.4(B3GALT6):c.33_39dup (p.Leu14fs) rs1468255826
NM_080605.4(B3GALT6):c.340G>A (p.Ala114Thr)
NM_080605.4(B3GALT6):c.341C>A (p.Ala114Glu) rs558454078
NM_080605.4(B3GALT6):c.341C>G (p.Ala114Gly) rs558454078
NM_080605.4(B3GALT6):c.343C>T (p.Arg115Trp)
NM_080605.4(B3GALT6):c.345G>A (p.Arg115=) rs1224612114
NM_080605.4(B3GALT6):c.347A>G (p.His116Arg) rs1638548585
NM_080605.4(B3GALT6):c.354C>G (p.Asp118Glu) rs767598361
NM_080605.4(B3GALT6):c.356TGC[5] (p.Leu122dup) rs755700896
NM_080605.4(B3GALT6):c.357G>C (p.Leu119=)
NM_080605.4(B3GALT6):c.366G>T (p.Leu122=)
NM_080605.4(B3GALT6):c.370G>A (p.Ala124Thr)
NM_080605.4(B3GALT6):c.384C>G (p.Ala128=) rs1570498417
NM_080605.4(B3GALT6):c.389A>G (p.Glu130Gly) rs1478246707
NM_080605.4(B3GALT6):c.38C>G (p.Ala13Gly)
NM_080605.4(B3GALT6):c.393C>T (p.Asn131=) rs1255662040
NM_080605.4(B3GALT6):c.3G>A (p.Met1Ile)
NM_080605.4(B3GALT6):c.409C>T (p.Leu137=)
NM_080605.4(B3GALT6):c.415A>G (p.Met139Val) rs2100993852
NM_080605.4(B3GALT6):c.415_423del (p.Met139_Ala141del) rs786200942
NM_080605.4(B3GALT6):c.420G>C (p.Leu140=)
NM_080605.4(B3GALT6):c.421del (p.Ala141fs)
NM_080605.4(B3GALT6):c.423C>T (p.Ala141=)
NM_080605.4(B3GALT6):c.443C>T (p.Ala148Val)
NM_080605.4(B3GALT6):c.446del (p.Phe149fs) rs1553151257
NM_080605.4(B3GALT6):c.447C>G (p.Phe149Leu) rs1638552845
NM_080605.4(B3GALT6):c.448G>C (p.Glu150Gln) rs1557526286
NM_080605.4(B3GALT6):c.451T>A (p.Phe151Ile)
NM_080605.4(B3GALT6):c.455T>C (p.Val152Ala)
NM_080605.4(B3GALT6):c.456G>C (p.Val152=)
NM_080605.4(B3GALT6):c.457C>T (p.Leu153Phe)
NM_080605.4(B3GALT6):c.458T>C (p.Leu153Pro) rs1638553187
NM_080605.4(B3GALT6):c.459C>G (p.Leu153=)
NM_080605.4(B3GALT6):c.459C>T (p.Leu153=) rs753855818
NM_080605.4(B3GALT6):c.462G>A (p.Lys154=)
NM_080605.4(B3GALT6):c.464C>A (p.Ala155Glu) rs2100993929
NM_080605.4(B3GALT6):c.466G>A (p.Asp156Asn) rs397514718
NM_080605.4(B3GALT6):c.472G>T (p.Asp158Tyr)
NM_080605.4(B3GALT6):c.472_473inv (p.Asp158Ser)
NM_080605.4(B3GALT6):c.476C>A (p.Ser159Tyr) rs1360531002
NM_080605.4(B3GALT6):c.484C>T (p.Arg162Trp) rs1638554377
NM_080605.4(B3GALT6):c.489G>A (p.Leu163=) rs1305970798
NM_080605.4(B3GALT6):c.48G>A (p.Leu16=) rs1570497749
NM_080605.4(B3GALT6):c.490_518dup (p.Glu174fs) rs2100993997
NM_080605.4(B3GALT6):c.495G>A (p.Ala165=)
NM_080605.4(B3GALT6):c.499C>T (p.Leu167=)
NM_080605.4(B3GALT6):c.49G>A (p.Gly17Ser)
NM_080605.4(B3GALT6):c.504C>G (p.Ala168=)
NM_080605.4(B3GALT6):c.513_520del (p.Glu174fs) rs778123798
NM_080605.4(B3GALT6):c.519C>T (p.Arg173=)
NM_080605.4(B3GALT6):c.521A>G (p.Glu174Gly) rs2100994072
NM_080605.4(B3GALT6):c.521_528del (p.Glu174fs)
NM_080605.4(B3GALT6):c.530G>A (p.Arg177His)
NM_080605.4(B3GALT6):c.530GCC[5] (p.Arg180dup) rs1057034356
NM_080605.4(B3GALT6):c.532C>T (p.Arg178Cys)
NM_080605.4(B3GALT6):c.533G>T (p.Arg178Leu)
NM_080605.4(B3GALT6):c.535C>T (p.Arg179Cys)
NM_080605.4(B3GALT6):c.536G>C (p.Arg179Pro)
NM_080605.4(B3GALT6):c.541C>A (p.Leu181Ile)
NM_080605.4(B3GALT6):c.546C>T (p.Tyr182=)
NM_080605.4(B3GALT6):c.547T>A (p.Trp183Arg)
NM_080605.4(B3GALT6):c.555C>T (p.Phe185=)
NM_080605.4(B3GALT6):c.556T>C (p.Phe186Leu) rs1553151294
NM_080605.4(B3GALT6):c.558C>T (p.Phe186=)
NM_080605.4(B3GALT6):c.55C>T (p.Leu19=)
NM_080605.4(B3GALT6):c.560C>G (p.Ser187Trp) rs1004549168
NM_080605.4(B3GALT6):c.573C>G (p.Arg191=)
NM_080605.4(B3GALT6):c.576C>G (p.Val192=) rs762952410
NM_080605.4(B3GALT6):c.581C>G (p.Pro194Arg) rs2100994186
NM_080605.4(B3GALT6):c.582G>C (p.Pro194=) rs532162467
NM_080605.4(B3GALT6):c.583G>A (p.Gly195Arg) rs551984021
NM_080605.4(B3GALT6):c.583G>C (p.Gly195Arg) rs551984021
NM_080605.4(B3GALT6):c.585G>A (p.Gly195=) rs562616873
NM_080605.4(B3GALT6):c.588del (p.Arg197fs) rs533071750
NM_080605.4(B3GALT6):c.588dup (p.Arg197fs) rs533071750
NM_080605.4(B3GALT6):c.591C>G (p.Arg197=)
NM_080605.4(B3GALT6):c.597C>T (p.Arg199=)
NM_080605.4(B3GALT6):c.598G>A (p.Glu200Lys)
NM_080605.4(B3GALT6):c.59C>G (p.Ala20Gly) rs1405919033
NM_080605.4(B3GALT6):c.609G>T (p.Trp203Cys) rs1170976606
NM_080605.4(B3GALT6):c.618C>G (p.Cys206Trp) rs763080896
NM_080605.4(B3GALT6):c.619G>C (p.Asp207His) rs397514723
NM_080605.4(B3GALT6):c.621C>T (p.Asp207=)
NM_080605.4(B3GALT6):c.623A>C (p.Tyr208Ser) rs1638560291
NM_080605.4(B3GALT6):c.636C>G (p.Tyr212Ter)
NM_080605.4(B3GALT6):c.646G>A (p.Gly216Ser) rs866914942
NM_080605.4(B3GALT6):c.651del (p.Tyr218fs) rs2100994328
NM_080605.4(B3GALT6):c.670C>T (p.Leu224=)
NM_080605.4(B3GALT6):c.673G>T (p.Val225Leu)
NM_080605.4(B3GALT6):c.682C>T (p.Leu228=)
NM_080605.4(B3GALT6):c.683T>G (p.Leu228Arg)
NM_080605.4(B3GALT6):c.687C>T (p.Arg229=)
NM_080605.4(B3GALT6):c.690C>T (p.Leu230=)
NM_080605.4(B3GALT6):c.702C>G (p.Tyr234Ter)
NM_080605.4(B3GALT6):c.702C>T (p.Tyr234=)
NM_080605.4(B3GALT6):c.706C>A (p.Arg236Ser)
NM_080605.4(B3GALT6):c.70G>A (p.Ala24Thr)
NM_080605.4(B3GALT6):c.70G>T (p.Ala24Ser)
NM_080605.4(B3GALT6):c.71C>T (p.Ala24Val)
NM_080605.4(B3GALT6):c.749C>G (p.Ala250Gly) rs2100994545
NM_080605.4(B3GALT6):c.749C>T (p.Ala250Val) rs2100994545
NM_080605.4(B3GALT6):c.762C>A (p.Val254=) rs2100994568
NM_080605.4(B3GALT6):c.763C>G (p.Gln255Glu)
NM_080605.4(B3GALT6):c.766C>T (p.Arg256Trp) rs1638566519
NM_080605.4(B3GALT6):c.772C>T (p.His258Tyr)
NM_080605.4(B3GALT6):c.77T>C (p.Leu26Pro) rs1553151166
NM_080605.4(B3GALT6):c.799C>T (p.Arg267Trp)
NM_080605.4(B3GALT6):c.79C>T (p.Leu27Phe)
NM_080605.4(B3GALT6):c.805C>T (p.Arg269Cys)
NM_080605.4(B3GALT6):c.815G>A (p.Ser272Asn) rs2100994661
NM_080605.4(B3GALT6):c.816C>G (p.Ser272Arg)
NM_080605.4(B3GALT6):c.81C>A (p.Leu27=) rs1334196295
NM_080605.4(B3GALT6):c.828G>C (p.Leu276=) rs1471341896
NM_080605.4(B3GALT6):c.829G>A (p.Val277Met)
NM_080605.4(B3GALT6):c.847C>T (p.Leu283=)
NM_080605.4(B3GALT6):c.84C>G (p.Tyr28Ter)
NM_080605.4(B3GALT6):c.856A>G (p.Met286Val) rs2100994726
NM_080605.4(B3GALT6):c.859C>G (p.Leu287Val)
NM_080605.4(B3GALT6):c.864G>A (p.Glu288=)
NM_080605.4(B3GALT6):c.877C>T (p.Leu293=)
NM_080605.4(B3GALT6):c.899G>C (p.Cys300Ser) rs786200939
NM_080605.4(B3GALT6):c.901_904dup (p.Arg302fs) rs1329926209
NM_080605.4(B3GALT6):c.903G>A (p.Lys301=)
NM_080605.4(B3GALT6):c.90G>A (p.Ala30=) rs1638533336
NM_080605.4(B3GALT6):c.918G>A (p.Leu306=)
NM_080605.4(B3GALT6):c.918G>T (p.Leu306=)
NM_080605.4(B3GALT6):c.925T>A (p.Ser309Thr) rs397514721
NM_080605.4(B3GALT6):c.956C>T (p.Ser319Leu) rs988906237
NM_080605.4(B3GALT6):c.96C>T (p.Cys32=)
NM_080605.4(B3GALT6):c.980dup (p.Ile328fs) rs1339079870
NM_080605.4(B3GALT6):c.986C>T (p.Pro329Leu)
NM_080605.4(B3GALT6):c.989G>A (p.Ter330=)

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.