ClinVar Miner

List of variants in gene B4GALT7 reported as uncertain significance for Ehlers-Danlos syndrome, spondylodysplastic type

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr) rs142476892 0.00150
NM_007255.3(B4GALT7):c.814G>A (p.Ala272Thr) rs146632722 0.00062
NM_007255.3(B4GALT7):c.634C>T (p.Arg212Trp) rs41284943 0.00031
NM_007255.3(B4GALT7):c.700C>T (p.Arg234Cys) rs139730903 0.00020
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=) rs756942664 0.00015
NM_007255.3(B4GALT7):c.791G>A (p.Arg264Gln) rs375644526 0.00013
NM_007255.3(B4GALT7):c.185G>A (p.Arg62Lys) rs373059256 0.00012
NM_007255.3(B4GALT7):c.278A>G (p.His93Arg) rs370658610 0.00006
NM_007255.3(B4GALT7):c.553G>A (p.Val185Met) rs137913131 0.00006
NM_007255.3(B4GALT7):c.737C>T (p.Ser246Leu) rs145692398 0.00006
NM_007255.3(B4GALT7):c.809G>A (p.Arg270His) rs369752734 0.00006
NM_007255.3(B4GALT7):c.872A>G (p.Lys291Arg) rs751742436 0.00006
NM_007255.3(B4GALT7):c.302T>C (p.Phe101Ser) rs771088509 0.00004
NM_007255.3(B4GALT7):c.698G>A (p.Arg233Gln) rs780268052 0.00004
NM_007255.3(B4GALT7):c.890G>A (p.Arg297His) rs374994284 0.00004
NM_007255.3(B4GALT7):c.337C>T (p.Pro113Ser) rs138496419 0.00003
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.514G>A (p.Glu172Lys) rs749164672 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_007255.3(B4GALT7):c.311G>T (p.Arg104Leu) rs140590638 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.413+6G>A rs566517243 0.00001
NM_007255.3(B4GALT7):c.487G>A (p.Asp163Asn) rs542850594 0.00001
NM_007255.3(B4GALT7):c.601G>A (p.Gly201Ser) rs935389752 0.00001
NM_007255.3(B4GALT7):c.614T>C (p.Leu205Pro) rs771458628 0.00001
NM_007255.3(B4GALT7):c.620C>T (p.Ser207Phe) rs774917613 0.00001
NM_007255.3(B4GALT7):c.639+5G>A rs1421361359 0.00001
NM_007255.3(B4GALT7):c.641G>A (p.Cys214Tyr) rs753594601 0.00001
NM_007255.3(B4GALT7):c.662T>C (p.Phe221Ser) rs1468472910 0.00001
NM_007255.3(B4GALT7):c.685G>A (p.Asp229Asn) rs753374573 0.00001
NM_007255.3(B4GALT7):c.733C>T (p.Pro245Ser) rs1429482924 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.875A>G (p.Tyr292Cys) rs780922438 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
NC_000005.9:g.(?_177027212)_(177027281_?)del
NM_007255.3(B4GALT7):c.106G>A (p.Val36Met)
NM_007255.3(B4GALT7):c.128TCT[1] (p.Phe44del) rs762698149
NM_007255.3(B4GALT7):c.134C>G (p.Ser45Cys) rs747688432
NM_007255.3(B4GALT7):c.134C>T (p.Ser45Phe)
NM_007255.3(B4GALT7):c.161C>G (p.Ser54Cys)
NM_007255.3(B4GALT7):c.168C>G (p.Asp56Glu) rs1309659292
NM_007255.3(B4GALT7):c.170T>C (p.Val57Ala)
NM_007255.3(B4GALT7):c.179_413+354del
NM_007255.3(B4GALT7):c.186G>C (p.Arg62Ser)
NM_007255.3(B4GALT7):c.188G>A (p.Gly63Glu)
NM_007255.3(B4GALT7):c.188G>T (p.Gly63Val)
NM_007255.3(B4GALT7):c.207G>A (p.Ser69=)
NM_007255.3(B4GALT7):c.218_219inv (p.Arg73His)
NM_007255.3(B4GALT7):c.225C>A (p.Cys75Ter) rs780427259
NM_007255.3(B4GALT7):c.239C>T (p.Pro80Leu)
NM_007255.3(B4GALT7):c.242_243del (p.Pro81fs)
NM_007255.3(B4GALT7):c.256G>C (p.Glu86Gln)
NM_007255.3(B4GALT7):c.258A>T (p.Glu86Asp) rs759226446
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.275C>T (p.Pro92Leu) rs778409854
NM_007255.3(B4GALT7):c.277dup (p.His93fs) rs879255634
NM_007255.3(B4GALT7):c.283C>G (p.Leu95Val) rs926913315
NM_007255.3(B4GALT7):c.316G>A (p.Glu106Lys) rs2127511686
NM_007255.3(B4GALT7):c.319G>C (p.Glu107Gln) rs1767927068
NM_007255.3(B4GALT7):c.325del (p.Leu109fs) rs2127511689
NM_007255.3(B4GALT7):c.340C>A (p.His114Asn) rs753864389
NM_007255.3(B4GALT7):c.343A>G (p.Met115Val)
NM_007255.3(B4GALT7):c.346C>G (p.Arg116Gly) rs750028904
NM_007255.3(B4GALT7):c.347G>A (p.Arg116His)
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.407A>T (p.His136Leu)
NM_007255.3(B4GALT7):c.413+3A>G
NM_007255.3(B4GALT7):c.414-2A>G
NM_007255.3(B4GALT7):c.446T>G (p.Phe149Cys) rs2127513189
NM_007255.3(B4GALT7):c.455G>C (p.Ser152Thr)
NM_007255.3(B4GALT7):c.467C>T (p.Thr156Met)
NM_007255.3(B4GALT7):c.484C>T (p.His162Tyr) rs375801425
NM_007255.3(B4GALT7):c.485A>G (p.His162Arg)
NM_007255.3(B4GALT7):c.486C>G (p.His162Gln) rs370142626
NM_007255.3(B4GALT7):c.491T>C (p.Val164Ala) rs1281774679
NM_007255.3(B4GALT7):c.502_517del (p.Pro168fs) rs2127513246
NM_007255.3(B4GALT7):c.509A>G (p.Asn170Ser) rs2127513256
NM_007255.3(B4GALT7):c.511G>A (p.Glu171Lys)
NM_007255.3(B4GALT7):c.520G>C (p.Asp174His)
NM_007255.3(B4GALT7):c.520G>T (p.Asp174Tyr) rs532945440
NM_007255.3(B4GALT7):c.522C>G (p.Asp174Glu)
NM_007255.3(B4GALT7):c.53C>G (p.Ser18Cys)
NM_007255.3(B4GALT7):c.563C>G (p.Pro188Arg) rs149484064
NM_007255.3(B4GALT7):c.629A>C (p.His210Pro) rs752722346
NM_007255.3(B4GALT7):c.632A>T (p.Tyr211Phe) rs2127513358
NM_007255.3(B4GALT7):c.639+6G>T
NM_007255.3(B4GALT7):c.640-12T>A
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.667G>A (p.Gly223Ser)
NM_007255.3(B4GALT7):c.688G>A (p.Glu230Lys) rs751946151
NM_007255.3(B4GALT7):c.723+3G>A
NM_007255.3(B4GALT7):c.731G>A (p.Arg244His)
NM_007255.3(B4GALT7):c.751G>A (p.Gly251Arg)
NM_007255.3(B4GALT7):c.761C>T (p.Thr254Ile) rs1435784513
NM_007255.3(B4GALT7):c.762_763del (p.Phe255fs)
NM_007255.3(B4GALT7):c.781C>T (p.Pro261Ser) rs1768098034
NM_007255.3(B4GALT7):c.844G>A (p.Asp282Asn) rs1768115670
NM_007255.3(B4GALT7):c.869T>C (p.Val290Ala)
NM_007255.3(B4GALT7):c.86G>A (p.Cys29Tyr)
NM_007255.3(B4GALT7):c.881_882insTGAGGTGGATTAAACCAAACCCAGCTACGCAAAATCTTAGT (p.Val294_Ala295insGluValAspTer) rs2127514559
NM_007255.3(B4GALT7):c.889C>T (p.Arg297Cys) rs749289544
NM_007255.3(B4GALT7):c.89C>T (p.Ser30Phe) rs1433445414
NM_007255.3(B4GALT7):c.910G>A (p.Gly304Arg) rs145082497
NM_007255.3(B4GALT7):c.910G>C (p.Gly304Arg) rs145082497
NM_007255.3(B4GALT7):c.911G>C (p.Gly304Ala)
NM_007255.3(B4GALT7):c.926del (p.Val309fs)
NM_007255.3(B4GALT7):c.937A>G (p.Met313Val) rs1768121721
NM_007255.3(B4GALT7):c.938T>G (p.Met313Arg) rs757174910
NM_007255.3(B4GALT7):c.939G>C (p.Met313Ile) rs778439107
NM_007255.3(B4GALT7):c.952A>G (p.Lys318Glu) rs2127514659
NM_007255.3(B4GALT7):c.959C>A (p.Ala320Asp) rs770222232
NM_007255.3(B4GALT7):c.962C>T (p.Thr321Ile) rs773712777

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