ClinVar Miner

List of variants in gene B3GALT6 studied for Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 267
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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 0.00425
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 0.00100
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val) rs200646244 0.00065
NM_080605.4(B3GALT6):c.853G>A (p.Asp285Asn) rs201547600 0.00058
NM_080605.4(B3GALT6):c.483G>A (p.Ala161=) rs373668725 0.00050
NM_080605.4(B3GALT6):c.485G>A (p.Arg162Gln) rs376811907 0.00043
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.109G>A (p.Gly37Arg) rs867336520 0.00033
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.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.149C>A (p.Pro50His) rs1156566104 0.00007
NM_080605.4(B3GALT6):c.436C>T (p.His146Tyr) rs558669120 0.00007
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.49G>A (p.Gly17Ser) rs933320998 0.00006
NM_080605.4(B3GALT6):c.520G>C (p.Glu174Gln) rs750182732 0.00006
NM_080605.4(B3GALT6):c.768G>A (p.Arg256=) rs779285702 0.00006
NM_080605.4(B3GALT6):c.1A>G (p.Met1Val) rs786200938 0.00005
NM_080605.4(B3GALT6):c.409C>G (p.Leu137Val) rs142133113 0.00005
NM_080605.4(B3GALT6):c.676C>T (p.His226Tyr) rs746174922 0.00005
NM_080605.4(B3GALT6):c.816C>G (p.Ser272Arg) rs1056092134 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.472G>T (p.Asp158Tyr) rs1326713160 0.00004
NM_080605.4(B3GALT6):c.630G>A (p.Leu210=) rs547484259 0.00004
NM_080605.4(B3GALT6):c.886G>A (p.Glu296Lys) rs1267101770 0.00004
NM_080605.4(B3GALT6):c.145C>A (p.Pro49Thr) rs1490617023 0.00003
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.343C>T (p.Arg115Trp) rs751816384 0.00003
NM_080605.4(B3GALT6):c.370G>A (p.Ala124Thr) rs540078143 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.81C>A (p.Leu27=) rs1334196295 0.00003
NM_080605.4(B3GALT6):c.833C>T (p.Thr278Met) rs775252357 0.00003
NM_080605.4(B3GALT6):c.13C>T (p.Arg5Trp) rs1638529780 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.340G>A (p.Ala114Thr) rs1345844830 0.00002
NM_080605.4(B3GALT6):c.367C>T (p.Pro123Ser) rs1057522880 0.00002
NM_080605.4(B3GALT6):c.422C>T (p.Ala141Val) rs762606889 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.687C>T (p.Arg229=) rs769070902 0.00002
NM_080605.4(B3GALT6):c.706C>A (p.Arg236Ser) rs752525239 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.829G>T (p.Val277Leu) rs1216124589 0.00002
NM_080605.4(B3GALT6):c.96C>T (p.Cys32=) rs1638533555 0.00002
NM_080605.4(B3GALT6):c.116C>T (p.Pro39Leu) rs1228493514 0.00001
NM_080605.4(B3GALT6):c.140C>T (p.Pro47Leu) rs1443054347 0.00001
NM_080605.4(B3GALT6):c.141G>A (p.Pro47=) rs1192778440 0.00001
NM_080605.4(B3GALT6):c.160C>G (p.Arg54Gly) rs1035452129 0.00001
NM_080605.4(B3GALT6):c.16C>A (p.Arg6=) rs397514722 0.00001
NM_080605.4(B3GALT6):c.16C>T (p.Arg6Trp) rs397514722 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.213G>A (p.Glu71=) rs1638539285 0.00001
NM_080605.4(B3GALT6):c.234C>T (p.Ser78=) rs1305896128 0.00001
NM_080605.4(B3GALT6):c.236C>A (p.Thr79Lys) rs1409554936 0.00001
NM_080605.4(B3GALT6):c.273G>C (p.Trp91Cys) rs924068844 0.00001
NM_080605.4(B3GALT6):c.285C>T (p.Ala95=) rs1557526065 0.00001
NM_080605.4(B3GALT6):c.291C>T (p.Gly97=) rs1457990186 0.00001
NM_080605.4(B3GALT6):c.308C>T (p.Ala103Val) rs1455509557 0.00001
NM_080605.4(B3GALT6):c.336G>A (p.Glu112=) rs775184604 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.443C>T (p.Ala148Val) rs756325734 0.00001
NM_080605.4(B3GALT6):c.456G>C (p.Val152=) rs1638553083 0.00001
NM_080605.4(B3GALT6):c.46C>T (p.Leu16=) rs1057524131 0.00001
NM_080605.4(B3GALT6):c.495G>A (p.Ala165=) rs1333788078 0.00001
NM_080605.4(B3GALT6):c.499C>T (p.Leu167=) rs761042305 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.519C>T (p.Arg173=) rs781333823 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.530G>A (p.Arg177His) rs778482110 0.00001
NM_080605.4(B3GALT6):c.535C>T (p.Arg179Cys) rs1262018584 0.00001
NM_080605.4(B3GALT6):c.545A>G (p.Tyr182Cys) rs1314046622 0.00001
NM_080605.4(B3GALT6):c.546C>T (p.Tyr182=) rs1481960157 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.573C>G (p.Arg191=) rs1331756827 0.00001
NM_080605.4(B3GALT6):c.576C>T (p.Val192=) rs762952410 0.00001
NM_080605.4(B3GALT6):c.597C>T (p.Arg199=) rs1638559455 0.00001
NM_080605.4(B3GALT6):c.59C>G (p.Ala20Gly) rs1405919033 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.673G>T (p.Val225Leu) rs781560319 0.00001
NM_080605.4(B3GALT6):c.682C>T (p.Leu228=) rs775975088 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.70G>T (p.Ala24Ser) rs1278976393 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.79C>T (p.Leu27Phe) rs1275399283 0.00001
NM_080605.4(B3GALT6):c.803C>T (p.Ser268Phe) rs1638568014 0.00001
NM_080605.4(B3GALT6):c.828G>C (p.Leu276=) rs1471341896 0.00001
NM_080605.4(B3GALT6):c.847C>T (p.Leu283=) rs540015952 0.00001
NM_080605.4(B3GALT6):c.871G>C (p.Ala291Pro) rs1434211258 0.00001
NM_080605.4(B3GALT6):c.877C>T (p.Leu293=) rs1239726506 0.00001
NM_080605.4(B3GALT6):c.883C>T (p.Arg295Cys) rs1284101388 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
NM_080605.4(B3GALT6):c.989G>A (p.Ter330=) rs1285145259 0.00001
NC_000001.10:g.(?_1167659)_(1168648_?)dup
NC_000001.11:g.1232202_1232288del
NM_080605.4(B3GALT6):c.101C>T (p.Ala34Val) rs1638533643
NM_080605.4(B3GALT6):c.102C>G (p.Ala34=) rs1416591096
NM_080605.4(B3GALT6):c.109G>C (p.Gly37Arg) rs867336520
NM_080605.4(B3GALT6):c.10C>G (p.Leu4Val) rs928368471
NM_080605.4(B3GALT6):c.128C>T (p.Ser43Leu) rs1322812318
NM_080605.4(B3GALT6):c.129G>A (p.Ser43=) rs1022883202
NM_080605.4(B3GALT6):c.12G>A (p.Leu4=) rs868472493
NM_080605.4(B3GALT6):c.141_142delinsTT (p.Pro48Ser) rs2521962294
NM_080605.4(B3GALT6):c.148C>A (p.Pro50Thr) rs1249919137
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=) rs1638536808
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.175C>G (p.Leu59Val) rs963500907
NM_080605.4(B3GALT6):c.178G>A (p.Ala60Thr) rs1638538307
NM_080605.4(B3GALT6):c.193A>T (p.Ser65Cys) rs397514719
NM_080605.4(B3GALT6):c.194G>C (p.Ser65Thr) rs2100993440
NM_080605.4(B3GALT6):c.198G>A (p.Ala66=) rs1234350290
NM_080605.4(B3GALT6):c.199C>A (p.Pro67Thr) rs2521963125
NM_080605.4(B3GALT6):c.199C>T (p.Pro67Ser) rs2521963125
NM_080605.4(B3GALT6):c.19_30dup (p.Ala7_Arg10dup) rs1553151150
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.217_231dup (p.Arg73_Arg77dup) rs1638539426
NM_080605.4(B3GALT6):c.227T>G (p.Ile76Ser) rs1436567011
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) rs1638540007
NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg) rs1409554936
NM_080605.4(B3GALT6):c.252C>G (p.Arg84=) rs933332160
NM_080605.4(B3GALT6):c.255G>T (p.Gly85=) rs1372150716
NM_080605.4(B3GALT6):c.261G>A (p.Pro87=) rs1410126668
NM_080605.4(B3GALT6):c.261G>T (p.Pro87=) rs1410126668
NM_080605.4(B3GALT6):c.26G>T (p.Arg9Leu) rs1478555453
NM_080605.4(B3GALT6):c.276_291dup (p.Thr98fs) rs2100993592
NM_080605.4(B3GALT6):c.285C>A (p.Ala95=) rs1557526065
NM_080605.4(B3GALT6):c.285C>G (p.Ala95=) rs1557526065
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.30G>C (p.Arg10=)
NM_080605.4(B3GALT6):c.30_39dup (p.Leu14fs) rs2100993072
NM_080605.4(B3GALT6):c.312G>C (p.Glu104Asp) rs2521964517
NM_080605.4(B3GALT6):c.324C>T (p.Ala108=) rs764859016
NM_080605.4(B3GALT6):c.331C>A (p.Arg111=) rs1638547925
NM_080605.4(B3GALT6):c.33_39dup (p.Leu14fs) rs1468255826
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.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=) rs2521965638
NM_080605.4(B3GALT6):c.366G>T (p.Leu122=) rs750669776
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) rs1429790718
NM_080605.4(B3GALT6):c.393C>T (p.Asn131=) rs1255662040
NM_080605.4(B3GALT6):c.3G>A (p.Met1Ile) rs2521960362
NM_080605.4(B3GALT6):c.409C>T (p.Leu137=) rs142133113
NM_080605.4(B3GALT6):c.415A>G (p.Met139Val) rs2100993852
NM_080605.4(B3GALT6):c.420G>C (p.Leu140=) rs2521966601
NM_080605.4(B3GALT6):c.421del (p.Ala141fs) rs1340631697
NM_080605.4(B3GALT6):c.423C>T (p.Ala141=)
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.455T>C (p.Val152Ala) rs955106901
NM_080605.4(B3GALT6):c.457C>T (p.Leu153Phe) rs142820961
NM_080605.4(B3GALT6):c.458T>C (p.Leu153Pro) rs1638553187
NM_080605.4(B3GALT6):c.459C>G (p.Leu153=) rs753855818
NM_080605.4(B3GALT6):c.459C>T (p.Leu153=) rs753855818
NM_080605.4(B3GALT6):c.462G>A (p.Lys154=) rs1188654312
NM_080605.4(B3GALT6):c.464C>A (p.Ala155Glu) rs2100993929
NM_080605.4(B3GALT6):c.472_473inv (p.Asp158Ser)
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.504C>G (p.Ala168=) rs1638555085
NM_080605.4(B3GALT6):c.513_520del (p.Glu174fs) rs778123798
NM_080605.4(B3GALT6):c.521A>G (p.Glu174Gly) rs2100994072
NM_080605.4(B3GALT6):c.521_528del (p.Glu174fs)
NM_080605.4(B3GALT6):c.530GCC[5] (p.Arg180dup) rs1057034356
NM_080605.4(B3GALT6):c.532C>T (p.Arg178Cys) rs747670452
NM_080605.4(B3GALT6):c.533G>T (p.Arg178Leu) rs2521968902
NM_080605.4(B3GALT6):c.536G>C (p.Arg179Pro) rs772512796
NM_080605.4(B3GALT6):c.541C>A (p.Leu181Ile) rs2521969057
NM_080605.4(B3GALT6):c.555C>T (p.Phe185=) rs1638557420
NM_080605.4(B3GALT6):c.558C>T (p.Phe186=) rs776909065
NM_080605.4(B3GALT6):c.55C>T (p.Leu19=) rs1159941155
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.588dup (p.Arg197fs) rs533071750
NM_080605.4(B3GALT6):c.591C>G (p.Arg197=) rs2521969822
NM_080605.4(B3GALT6):c.609G>T (p.Trp203Cys) rs1170976606
NM_080605.4(B3GALT6):c.621C>T (p.Asp207=) rs1638560199
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=) rs1351950308
NM_080605.4(B3GALT6):c.683T>G (p.Leu228Arg) rs2100994407
NM_080605.4(B3GALT6):c.690C>T (p.Leu230=) rs774559255
NM_080605.4(B3GALT6):c.702C>G (p.Tyr234Ter) rs776467362
NM_080605.4(B3GALT6):c.702C>T (p.Tyr234=) rs776467362
NM_080605.4(B3GALT6):c.70G>A (p.Ala24Thr)
NM_080605.4(B3GALT6):c.71C>T (p.Ala24Val) rs1334410069
NM_080605.4(B3GALT6):c.749C>G (p.Ala250Gly) rs2100994545
NM_080605.4(B3GALT6):c.762C>A (p.Val254=) rs2100994568
NM_080605.4(B3GALT6):c.763C>G (p.Gln255Glu) rs1239366051
NM_080605.4(B3GALT6):c.772C>T (p.His258Tyr) rs2521972358
NM_080605.4(B3GALT6):c.77T>C (p.Leu26Pro) rs1553151166
NM_080605.4(B3GALT6):c.799C>T (p.Arg267Trp) rs1448290829
NM_080605.4(B3GALT6):c.805C>T (p.Arg269Cys)
NM_080605.4(B3GALT6):c.815G>A (p.Ser272Asn) rs2100994661
NM_080605.4(B3GALT6):c.829G>A (p.Val277Met) rs1216124589
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=) rs1298748896
NM_080605.4(B3GALT6):c.901_904dup (p.Arg302fs) rs1329926209
NM_080605.4(B3GALT6):c.903G>A (p.Lys301=) rs2521974152
NM_080605.4(B3GALT6):c.90G>A (p.Ala30=) rs1638533336
NM_080605.4(B3GALT6):c.918G>A (p.Leu306=) rs574367204
NM_080605.4(B3GALT6):c.918G>T (p.Leu306=) rs574367204
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.980dup (p.Ile328fs) rs1339079870
NM_080605.4(B3GALT6):c.986C>T (p.Pro329Leu)

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