ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome, spondylodysplastic type by Invitae

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 288
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007255.3(B4GALT7):c.814G>A (p.Ala272Thr) rs146632722 0.00062
NM_001128225.3(SLC39A13):c.571G>A (p.Ala191Thr) rs138998777 0.00061
NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln) rs1131691530 0.00041
NM_007255.3(B4GALT7):c.634C>T (p.Arg212Trp) rs41284943 0.00031
NM_001128225.3(SLC39A13):c.55C>T (p.Leu19Phe) rs61995938 0.00028
NM_007255.3(B4GALT7):c.700C>T (p.Arg234Cys) rs139730903 0.00020
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833 0.00019
NM_001128225.3(SLC39A13):c.635G>A (p.Arg212Gln) rs200490683 0.00013
NM_007255.3(B4GALT7):c.791G>A (p.Arg264Gln) rs375644526 0.00013
NM_080605.4(B3GALT6):c.604G>A (p.Ala202Thr) rs377718922 0.00013
NM_001128225.3(SLC39A13):c.302-3T>C rs371414744 0.00012
NM_007255.3(B4GALT7):c.185G>A (p.Arg62Lys) rs373059256 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.367C>T (p.Pro123Ser) rs1057522880 0.00010
NM_080605.4(B3GALT6):c.503C>T (p.Ala168Val) rs766519442 0.00010
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_001128225.3(SLC39A13):c.1043G>A (p.Arg348His) rs770908923 0.00006
NM_007255.3(B4GALT7):c.737C>T (p.Ser246Leu) rs145692398 0.00006
NM_007255.3(B4GALT7):c.872A>G (p.Lys291Arg) rs751742436 0.00006
NM_001128225.3(SLC39A13):c.889G>A (p.Ala297Thr) rs374739509 0.00005
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_001128225.3(SLC39A13):c.1046C>T (p.Ser349Phe) rs376076637 0.00004
NM_001128225.3(SLC39A13):c.116G>A (p.Ser39Asn) rs775918761 0.00004
NM_001128225.3(SLC39A13):c.118C>T (p.Arg40Trp) rs368796707 0.00004
NM_001128225.3(SLC39A13):c.23G>T (p.Gly8Val) rs779570378 0.00004
NM_001128225.3(SLC39A13):c.314G>A (p.Arg105His) rs762900525 0.00004
NM_001128225.3(SLC39A13):c.491C>T (p.Ala164Val) rs914512778 0.00004
NM_001128225.3(SLC39A13):c.640A>G (p.Ile214Val) rs750123189 0.00004
NM_001128225.3(SLC39A13):c.833G>C (p.Ser278Thr) rs370516835 0.00004
NM_001128225.3(SLC39A13):c.95G>T (p.Gly32Val) rs754558033 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_001128225.3(SLC39A13):c.139C>T (p.Arg47Cys) rs766701277 0.00003
NM_001128225.3(SLC39A13):c.403A>G (p.Ser135Gly) rs377518253 0.00003
NM_001128225.3(SLC39A13):c.786+6C>T rs779162662 0.00003
NM_001128225.3(SLC39A13):c.919+4C>T rs368667805 0.00003
NM_007255.3(B4GALT7):c.337C>T (p.Pro113Ser) rs138496419 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_001128225.3(SLC39A13):c.112C>T (p.Arg38Trp) rs149930229 0.00002
NM_001128225.3(SLC39A13):c.191G>A (p.Arg64Gln) rs368519440 0.00002
NM_001128225.3(SLC39A13):c.286A>G (p.Met96Val) rs895559794 0.00002
NM_001128225.3(SLC39A13):c.35C>T (p.Ala12Val) rs556023069 0.00002
NM_001128225.3(SLC39A13):c.38G>T (p.Gly13Val) rs148165667 0.00002
NM_001128225.3(SLC39A13):c.584G>A (p.Gly195Asp) rs750069673 0.00002
NM_007255.3(B4GALT7):c.128T>G (p.Phe43Cys) rs370483831 0.00002
NM_007255.3(B4GALT7):c.362G>C (p.Arg121Thr) rs781467817 0.00002
NM_007255.3(B4GALT7):c.79C>T (p.Arg27Trp) rs947051343 0.00002
NM_007255.3(B4GALT7):c.94T>A (p.Phe32Ile) rs1043221348 0.00002
NM_080605.4(B3GALT6):c.145C>A (p.Pro49Thr) rs1490617023 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_001128225.3(SLC39A13):c.1108G>A (p.Val370Met) rs772789507 0.00001
NM_001128225.3(SLC39A13):c.1116A>G (p.Ter372=) rs762617893 0.00001
NM_001128225.3(SLC39A13):c.113G>A (p.Arg38Gln) rs770839268 0.00001
NM_001128225.3(SLC39A13):c.128C>T (p.Ala43Val) rs762413647 0.00001
NM_001128225.3(SLC39A13):c.140G>A (p.Arg47His) rs754538699 0.00001
NM_001128225.3(SLC39A13):c.149A>G (p.Asn50Ser) rs563652715 0.00001
NM_001128225.3(SLC39A13):c.184G>A (p.Gly62Arg) rs200726045 0.00001
NM_001128225.3(SLC39A13):c.221G>A (p.Gly74Asp) rs121434363 0.00001
NM_001128225.3(SLC39A13):c.234G>A (p.Val78=) rs140298838 0.00001
NM_001128225.3(SLC39A13):c.284C>T (p.Thr95Ile) rs1317018795 0.00001
NM_001128225.3(SLC39A13):c.292C>T (p.Arg98Cys) rs369854018 0.00001
NM_001128225.3(SLC39A13):c.313C>T (p.Arg105Cys) rs374468349 0.00001
NM_001128225.3(SLC39A13):c.31A>G (p.Met11Val) rs768592866 0.00001
NM_001128225.3(SLC39A13):c.355G>T (p.Gly119Cys) rs892859231 0.00001
NM_001128225.3(SLC39A13):c.392C>T (p.Ala131Val) rs370161381 0.00001
NM_001128225.3(SLC39A13):c.427C>T (p.Gln143Ter) rs752159748 0.00001
NM_001128225.3(SLC39A13):c.487C>G (p.Leu163Val) rs2096004287 0.00001
NM_001128225.3(SLC39A13):c.572C>T (p.Ala191Val) rs200688736 0.00001
NM_001128225.3(SLC39A13):c.578A>G (p.Asn193Ser) rs746264976 0.00001
NM_001128225.3(SLC39A13):c.589T>C (p.Cys197Arg) rs779407804 0.00001
NM_001128225.3(SLC39A13):c.736A>G (p.Ile246Val) rs767784704 0.00001
NM_001128225.3(SLC39A13):c.767T>C (p.Leu256Pro) rs924156969 0.00001
NM_001128225.3(SLC39A13):c.817G>A (p.Gly273Ser) rs199989846 0.00001
NM_001128225.3(SLC39A13):c.823G>C (p.Asp275His) rs1484874346 0.00001
NM_001128225.3(SLC39A13):c.850C>G (p.Leu284Val) rs1300393650 0.00001
NM_001128225.3(SLC39A13):c.991A>G (p.Ile331Val) rs1407619087 0.00001
NM_007255.3(B4GALT7):c.374G>A (p.Arg125Gln) rs568792091 0.00001
NM_007255.3(B4GALT7):c.413+4G>C rs761866281 0.00001
NM_007255.3(B4GALT7):c.601G>A (p.Gly201Ser) rs935389752 0.00001
NM_007255.3(B4GALT7):c.641G>A (p.Cys214Tyr) rs753594601 0.00001
NM_007255.3(B4GALT7):c.767G>A (p.Arg256His) rs764639019 0.00001
NM_007255.3(B4GALT7):c.811A>C (p.Ile271Leu) rs143680535 0.00001
NM_007255.3(B4GALT7):c.829G>T (p.Glu277Ter) rs1481659687 0.00001
NM_007255.3(B4GALT7):c.895G>A (p.Ala299Thr) rs771646034 0.00001
NM_007255.3(B4GALT7):c.914C>A (p.Ala305Asp) rs774322603 0.00001
NM_080605.4(B3GALT6):c.149C>A (p.Pro50His) rs1156566104 0.00001
NM_080605.4(B3GALT6):c.273G>C (p.Trp91Cys) rs924068844 0.00001
NM_080605.4(B3GALT6):c.353del (p.Asp118fs) rs750088530 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.631C>T (p.Pro211Ser) rs760685441 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.731C>T (p.Ser244Phe) rs1381077083 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
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_000005.9:g.(?_176047812)_(177422934_?)del
NC_000005.9:g.(?_177027212)_(177027281_?)del
NC_000005.9:g.(?_177031160)_(178414004_?)dup
NM_001128225.3(SLC39A13):c.1000G>A (p.Val334Met) rs1595887083
NM_001128225.3(SLC39A13):c.1010T>C (p.Leu337Pro) rs2153301868
NM_001128225.3(SLC39A13):c.1037C>G (p.Pro346Arg)
NM_001128225.3(SLC39A13):c.1051C>T (p.Gln351Ter)
NM_001128225.3(SLC39A13):c.1077C>T (p.Gly359=) rs1163501092
NM_001128225.3(SLC39A13):c.1094T>C (p.Leu365Pro) rs2096021765
NM_001128225.3(SLC39A13):c.109C>T (p.Leu37Phe)
NM_001128225.3(SLC39A13):c.1100C>T (p.Ser367Leu) rs777112793
NM_001128225.3(SLC39A13):c.131C>T (p.Thr44Met)
NM_001128225.3(SLC39A13):c.133G>A (p.Ala45Thr)
NM_001128225.3(SLC39A13):c.134C>T (p.Ala45Val) rs2095991241
NM_001128225.3(SLC39A13):c.163T>C (p.Ser55Pro)
NM_001128225.3(SLC39A13):c.166dup (p.Trp56fs)
NM_001128225.3(SLC39A13):c.185G>C (p.Gly62Ala) rs1565660438
NM_001128225.3(SLC39A13):c.255_269del (p.Leu87_Leu91del) rs2095992049
NM_001128225.3(SLC39A13):c.265A>G (p.Ile89Val) rs754729494
NM_001128225.3(SLC39A13):c.299A>C (p.Glu100Ala) rs2153291853
NM_001128225.3(SLC39A13):c.301+5G>A rs1351664483
NM_001128225.3(SLC39A13):c.302C>T (p.Ala101Val) rs2153295514
NM_001128225.3(SLC39A13):c.323A>G (p.Gln108Arg) rs1565662802
NM_001128225.3(SLC39A13):c.325C>G (p.Leu109Val) rs146848042
NM_001128225.3(SLC39A13):c.377dup (p.Pro127fs)
NM_001128225.3(SLC39A13):c.38G>C (p.Gly13Ala) rs148165667
NM_001128225.3(SLC39A13):c.497AGA[1] (p.Lys167del)
NM_001128225.3(SLC39A13):c.530C>T (p.Thr177Ile) rs1555136368
NM_001128225.3(SLC39A13):c.634C>T (p.Arg212Trp)
NM_001128225.3(SLC39A13):c.644A>C (p.Lys215Thr) rs765944959
NM_001128225.3(SLC39A13):c.645+3G>A rs2153299338
NM_001128225.3(SLC39A13):c.652G>A (p.Gly218Ser)
NM_001128225.3(SLC39A13):c.694C>T (p.His232Tyr)
NM_001128225.3(SLC39A13):c.730_732AAG[1] (p.Lys245del) rs2153299658
NM_001128225.3(SLC39A13):c.786+5G>A rs1331180727
NM_001128225.3(SLC39A13):c.789G>A (p.Val263=) rs747750601
NM_001128225.3(SLC39A13):c.812G>C (p.Arg271Pro) rs376883075
NM_001128225.3(SLC39A13):c.849A>T (p.Gln283His) rs1468079148
NM_001128225.3(SLC39A13):c.863T>G (p.Leu288Arg)
NM_001128225.3(SLC39A13):c.86G>A (p.Arg29Lys) rs751210151
NM_001128225.3(SLC39A13):c.875T>G (p.Leu292Arg)
NM_001128225.3(SLC39A13):c.880G>A (p.Ala294Thr)
NM_001128225.3(SLC39A13):c.919+5G>A
NM_007255.3(B4GALT7):c.106G>A (p.Val36Met)
NM_007255.3(B4GALT7):c.13C>T (p.Arg5Trp) rs2127509643
NM_007255.3(B4GALT7):c.161C>G (p.Ser54Cys)
NM_007255.3(B4GALT7):c.186G>C (p.Arg62Ser)
NM_007255.3(B4GALT7):c.188G>A (p.Gly63Glu)
NM_007255.3(B4GALT7):c.218_219inv (p.Arg73His)
NM_007255.3(B4GALT7):c.256G>C (p.Glu86Gln)
NM_007255.3(B4GALT7):c.272_273delinsTT (p.Gly91Val) rs2127511623
NM_007255.3(B4GALT7):c.274C>T (p.Pro92Ser) rs756885469
NM_007255.3(B4GALT7):c.277dup (p.His93fs) rs879255634
NM_007255.3(B4GALT7):c.283C>G (p.Leu95Val) rs926913315
NM_007255.3(B4GALT7):c.29A>T (p.Gln10Leu)
NM_007255.3(B4GALT7):c.316G>A (p.Glu106Lys) rs2127511686
NM_007255.3(B4GALT7):c.340C>A (p.His114Asn) rs753864389
NM_007255.3(B4GALT7):c.343A>G (p.Met115Val)
NM_007255.3(B4GALT7):c.364A>C (p.Lys122Gln) rs201281389
NM_007255.3(B4GALT7):c.398A>G (p.Gln133Arg) rs1370937766
NM_007255.3(B4GALT7):c.400G>A (p.Val134Met) rs2127511771
NM_007255.3(B4GALT7):c.467C>T (p.Thr156Met)
NM_007255.3(B4GALT7):c.485A>G (p.His162Arg)
NM_007255.3(B4GALT7):c.511G>A (p.Glu171Lys)
NM_007255.3(B4GALT7):c.53C>G (p.Ser18Cys)
NM_007255.3(B4GALT7):c.563C>G (p.Pro188Arg) rs149484064
NM_007255.3(B4GALT7):c.658C>A (p.Arg220Ser) rs199905021
NM_007255.3(B4GALT7):c.658C>T (p.Arg220Cys) rs199905021
NM_007255.3(B4GALT7):c.731G>A (p.Arg244His)
NM_007255.3(B4GALT7):c.761C>T (p.Thr254Ile) rs1435784513
NM_007255.3(B4GALT7):c.7C>T (p.Pro3Ser) rs749515076
NM_007255.3(B4GALT7):c.844G>A (p.Asp282Asn) rs1768115670
NM_007255.3(B4GALT7):c.889C>T (p.Arg297Cys) rs749289544
NM_007255.3(B4GALT7):c.910G>A (p.Gly304Arg) rs145082497
NM_007255.3(B4GALT7):c.938T>G (p.Met313Arg) rs757174910
NM_080605.4(B3GALT6):c.101C>T (p.Ala34Val)
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.13C>T (p.Arg5Trp) rs1638529780
NM_080605.4(B3GALT6):c.140C>T (p.Pro47Leu)
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.160C>G (p.Arg54Gly) rs1035452129
NM_080605.4(B3GALT6):c.163G>C (p.Ala55Pro) rs950488335
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>T (p.Ser65Cys)
NM_080605.4(B3GALT6):c.194G>C (p.Ser65Thr) rs2100993440
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.201_210del (p.Arg68fs) rs2100993446
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.236C>A (p.Thr79Lys)
NM_080605.4(B3GALT6):c.236C>G (p.Thr79Arg) rs1409554936
NM_080605.4(B3GALT6):c.26G>T (p.Arg9Leu)
NM_080605.4(B3GALT6):c.276_291dup (p.Thr98fs) rs2100993592
NM_080605.4(B3GALT6):c.308C>T (p.Ala103Val)
NM_080605.4(B3GALT6):c.30_39dup (p.Leu14fs) rs2100993072
NM_080605.4(B3GALT6):c.312G>C (p.Glu104Asp)
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.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.370G>A (p.Ala124Thr)
NM_080605.4(B3GALT6):c.389A>G (p.Glu130Gly) rs1478246707
NM_080605.4(B3GALT6):c.38C>G (p.Ala13Gly)
NM_080605.4(B3GALT6):c.415A>G (p.Met139Val) rs2100993852
NM_080605.4(B3GALT6):c.420G>C (p.Leu140=)
NM_080605.4(B3GALT6):c.421del (p.Ala141fs)
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.455T>C (p.Val152Ala)
NM_080605.4(B3GALT6):c.457C>T (p.Leu153Phe)
NM_080605.4(B3GALT6):c.458T>C (p.Leu153Pro) rs1638553187
NM_080605.4(B3GALT6):c.464C>A (p.Ala155Glu) rs2100993929
NM_080605.4(B3GALT6):c.472G>T (p.Asp158Tyr)
NM_080605.4(B3GALT6):c.472_473inv (p.Asp158Ser)
NM_080605.4(B3GALT6):c.490_518dup (p.Glu174fs) rs2100993997
NM_080605.4(B3GALT6):c.49G>A (p.Gly17Ser)
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.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.581C>G (p.Pro194Arg) rs2100994186
NM_080605.4(B3GALT6):c.583G>A (p.Gly195Arg) rs551984021
NM_080605.4(B3GALT6):c.588dup (p.Arg197fs) rs533071750
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.623A>C (p.Tyr208Ser) rs1638560291
NM_080605.4(B3GALT6):c.646G>A (p.Gly216Ser) rs866914942
NM_080605.4(B3GALT6):c.651del (p.Tyr218fs) rs2100994328
NM_080605.4(B3GALT6):c.673G>T (p.Val225Leu)
NM_080605.4(B3GALT6):c.683T>G (p.Leu228Arg)
NM_080605.4(B3GALT6):c.702C>G (p.Tyr234Ter)
NM_080605.4(B3GALT6):c.706C>A (p.Arg236Ser)
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.763C>G (p.Gln255Glu)
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.815G>A (p.Ser272Asn) rs2100994661
NM_080605.4(B3GALT6):c.816C>G (p.Ser272Arg)
NM_080605.4(B3GALT6):c.829G>A (p.Val277Met)
NM_080605.4(B3GALT6):c.856A>G (p.Met286Val) rs2100994726
NM_080605.4(B3GALT6):c.901_904dup (p.Arg302fs) rs1329926209
NM_080605.4(B3GALT6):c.956C>T (p.Ser319Leu) rs988906237
NM_080605.4(B3GALT6):c.980dup (p.Ile328fs) rs1339079870

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.