ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome, spondylodysplastic type, 2 by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 140
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HGVS dbSNP gnomAD frequency
NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln) rs1131691530 0.00041
NM_080605.4(B3GALT6):c.604G>A (p.Ala202Thr) rs377718922 0.00013
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_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.676C>T (p.His226Tyr) rs746174922 0.00004
NM_080605.4(B3GALT6):c.886G>A (p.Glu296Lys) rs1267101770 0.00004
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.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.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
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

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