ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome progeroid type

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 277
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HGVS dbSNP gnomAD frequency
NM_007255.3(B4GALT7):c.828+28A>G rs6600953 0.99130
NM_007255.3(B4GALT7):c.219T>C (p.Arg73=) rs11537644 0.65175
NM_007255.3(B4GALT7):c.777T>C (p.His259=) rs729459 0.58812
NM_007255.3(B4GALT7):c.828+20T>C rs755873 0.02090
NM_007255.3(B4GALT7):c.413+12C>G rs77537553 0.01194
NM_007255.3(B4GALT7):c.297G>T (p.Val99=) rs114036939 0.01155
NM_007255.3(B4GALT7):c.414-20G>A rs138092105 0.00252
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr) rs142476892 0.00150
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=) rs142951817 0.00140
NM_007255.3(B4GALT7):c.51-14C>T rs202024448 0.00079
NM_007255.3(B4GALT7):c.723+20G>A rs199543624 0.00074
NM_007255.3(B4GALT7):c.814G>A (p.Ala272Thr) rs146632722 0.00062
NM_007255.3(B4GALT7):c.387C>T (p.Tyr129=) rs200124872 0.00047
NM_007255.3(B4GALT7):c.634C>T (p.Arg212Trp) rs41284943 0.00031
NM_007255.3(B4GALT7):c.564G>A (p.Pro188=) rs115756833 0.00028
NM_007255.3(B4GALT7):c.723+19C>T rs374080326 0.00028
NM_007255.3(B4GALT7):c.49A>G (p.Arg17Gly) rs774824237 0.00025
NM_007255.3(B4GALT7):c.867T>C (p.Thr289=) rs201616836 0.00023
NM_007255.3(B4GALT7):c.222C>G (p.Ala74=) rs200218920 0.00022
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_007255.3(B4GALT7):c.498G>A (p.Leu166=) rs140848441 0.00016
NM_007255.3(B4GALT7):c.589A>G (p.Lys197Glu) rs200732558 0.00016
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.717G>C (p.Gly239=) rs149805079 0.00012
NM_007255.3(B4GALT7):c.489C>T (p.Asp163=) rs372857848 0.00009
NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys) rs28937869 0.00009
NM_007255.3(B4GALT7):c.828+10G>A rs766078359 0.00009
NM_007255.3(B4GALT7):c.909C>T (p.Gly303=) rs557374282 0.00009
NM_007255.3(B4GALT7):c.522C>T (p.Asp174=) rs775207945 0.00007
NM_007255.3(B4GALT7):c.561C>T (p.Ser187=) rs767559423 0.00007
NM_007255.3(B4GALT7):c.278A>G (p.His93Arg) rs370658610 0.00006
NM_007255.3(B4GALT7):c.315C>T (p.Phe105=) rs150487733 0.00006
NM_007255.3(B4GALT7):c.432C>T (p.Leu144=) rs369974140 0.00006
NM_007255.3(B4GALT7):c.553G>A (p.Val185Met) rs137913131 0.00006
NM_007255.3(B4GALT7):c.697C>T (p.Arg233Trp) rs147617631 0.00006
NM_007255.3(B4GALT7):c.723+13G>A rs775276570 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.421C>T (p.Arg141Trp) rs187063864 0.00005
NM_007255.3(B4GALT7):c.600C>T (p.Val200=) rs148615542 0.00005
NM_007255.3(B4GALT7):c.66C>T (p.Ser22=) rs774814337 0.00005
NM_007255.3(B4GALT7):c.723+7T>C rs376100460 0.00005
NM_007255.3(B4GALT7):c.225C>T (p.Cys75=) rs780427259 0.00004
NM_007255.3(B4GALT7):c.302T>C (p.Phe101Ser) rs771088509 0.00004
NM_007255.3(B4GALT7):c.51-13G>A rs1405020049 0.00004
NM_007255.3(B4GALT7):c.603C>T (p.Gly201=) rs374198956 0.00004
NM_007255.3(B4GALT7):c.676C>T (p.Arg226Cys) rs201489289 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.273C>T (p.Gly91=) rs375667092 0.00003
NM_007255.3(B4GALT7):c.337C>T (p.Pro113Ser) rs138496419 0.00003
NM_007255.3(B4GALT7):c.517C>T (p.Leu173=) rs373068387 0.00003
NM_007255.3(B4GALT7):c.829-14C>G rs199973542 0.00003
NM_007255.3(B4GALT7):c.128T>G (p.Phe43Cys) rs370483831 0.00002
NM_007255.3(B4GALT7):c.136C>T (p.Leu46=) rs748963969 0.00002
NM_007255.3(B4GALT7):c.362G>C (p.Arg121Thr) rs781467817 0.00002
NM_007255.3(B4GALT7):c.468G>A (p.Thr156=) rs775059052 0.00002
NM_007255.3(B4GALT7):c.514G>A (p.Glu172Lys) rs749164672 0.00002
NM_007255.3(B4GALT7):c.557C>A (p.Ala186Asp) rs121917817 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.100C>T (p.Leu34=) rs753921062 0.00001
NM_007255.3(B4GALT7):c.122T>C (p.Leu41Pro) rs375845310 0.00001
NM_007255.3(B4GALT7):c.15G>A (p.Arg5=) rs778740793 0.00001
NM_007255.3(B4GALT7):c.20A>G (p.Lys7Arg) rs1370799068 0.00001
NM_007255.3(B4GALT7):c.288A>G (p.Ala96=) rs748595740 0.00001
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.50+13G>T rs746553066 0.00001
NM_007255.3(B4GALT7):c.50+20C>A rs1259555733 0.00001
NM_007255.3(B4GALT7):c.50+9C>T rs1180310359 0.00001
NM_007255.3(B4GALT7):c.51-12C>T rs374904923 0.00001
NM_007255.3(B4GALT7):c.51-15C>A rs750251768 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.702C>T (p.Arg234=) rs1768086053 0.00001
NM_007255.3(B4GALT7):c.726T>A (p.Leu242=) rs367964168 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.813C>T (p.Ile271=) rs570926723 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.879T>C (p.His293=) rs755949684 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.(?_176047812)_(177422934_?)del
NC_000005.9:g.(?_177027212)_(177027281_?)del
NC_000005.9:g.(?_177031160)_(178414004_?)dup
NM_007255.3(B4GALT7):c.105C>T (p.Phe35=)
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.135C>T (p.Ser45=)
NM_007255.3(B4GALT7):c.13C>T (p.Arg5Trp) rs2127509643
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.171G>A (p.Val57=)
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.18G>A (p.Arg6=)
NM_007255.3(B4GALT7):c.204C>A (p.Thr68=) rs1767919814
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.240C>T (p.Pro80=) rs377379133
NM_007255.3(B4GALT7):c.242_243del (p.Pro81fs)
NM_007255.3(B4GALT7):c.246G>A (p.Glu82=)
NM_007255.3(B4GALT7):c.256G>C (p.Glu86Gln)
NM_007255.3(B4GALT7):c.258A>T (p.Glu86Asp) rs759226446
NM_007255.3(B4GALT7):c.261C>T (p.Asp87=)
NM_007255.3(B4GALT7):c.267C>T (p.Ser89=)
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.27G>A (p.Ala9=) rs1448005107
NM_007255.3(B4GALT7):c.283C>G (p.Leu95Val) rs926913315
NM_007255.3(B4GALT7):c.283C>T (p.Leu95=)
NM_007255.3(B4GALT7):c.29A>T (p.Gln10Leu)
NM_007255.3(B4GALT7):c.300C>T (p.Pro100=)
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.324C>T (p.Leu108=) rs1767927262
NM_007255.3(B4GALT7):c.325del (p.Leu109fs) rs2127511689
NM_007255.3(B4GALT7):c.33G>A (p.Leu11=) rs1005210482
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.351C>T (p.Arg117=)
NM_007255.3(B4GALT7):c.364A>C (p.Lys122Gln) rs201281389
NM_007255.3(B4GALT7):c.396C>T (p.Asn132=)
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.408C>T (p.His136=)
NM_007255.3(B4GALT7):c.413+12C>T
NM_007255.3(B4GALT7):c.413+13C>T
NM_007255.3(B4GALT7):c.413+14C>T
NM_007255.3(B4GALT7):c.413+15C>T rs757790046
NM_007255.3(B4GALT7):c.413+16A>C rs1767932065
NM_007255.3(B4GALT7):c.413+16A>G
NM_007255.3(B4GALT7):c.413+17C>G
NM_007255.3(B4GALT7):c.413+17C>T
NM_007255.3(B4GALT7):c.413+19C>T
NM_007255.3(B4GALT7):c.413+3A>G
NM_007255.3(B4GALT7):c.413+60C>G rs28499092
NM_007255.3(B4GALT7):c.414-2A>G
NM_007255.3(B4GALT7):c.421C>A (p.Arg141=)
NM_007255.3(B4GALT7):c.429G>A (p.Ala143=)
NM_007255.3(B4GALT7):c.438C>T (p.Asn146=)
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.46G>C (p.Gly16Arg) rs1391741493
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.486C>T (p.His162=)
NM_007255.3(B4GALT7):c.491T>C (p.Val164Ala) rs1281774679
NM_007255.3(B4GALT7):c.492T>C (p.Val164=)
NM_007255.3(B4GALT7):c.50+14G>A
NM_007255.3(B4GALT7):c.50+1G>A
NM_007255.3(B4GALT7):c.50+5GCG[4]
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.51-11G>A rs763444666
NM_007255.3(B4GALT7):c.51-19T>C
NM_007255.3(B4GALT7):c.51-20C>G
NM_007255.3(B4GALT7):c.51-4C>T
NM_007255.3(B4GALT7):c.510C>T (p.Asn170=)
NM_007255.3(B4GALT7):c.511G>A (p.Glu171Lys)
NM_007255.3(B4GALT7):c.519G>A (p.Leu173=)
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.54C>T (p.Ser18=)
NM_007255.3(B4GALT7):c.563C>G (p.Pro188Arg) rs149484064
NM_007255.3(B4GALT7):c.564G>T (p.Pro188=)
NM_007255.3(B4GALT7):c.579C>T (p.Leu193=)
NM_007255.3(B4GALT7):c.57G>A (p.Gly19=)
NM_007255.3(B4GALT7):c.585C>T (p.His195=)
NM_007255.3(B4GALT7):c.597T>C (p.Tyr199=) rs560198890
NM_007255.3(B4GALT7):c.617T>C (p.Leu206Pro) rs121917818
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.633C>T (p.Tyr211=)
NM_007255.3(B4GALT7):c.636G>A (p.Arg212=)
NM_007255.3(B4GALT7):c.639+10G>A rs1023872849
NM_007255.3(B4GALT7):c.639+13C>A rs746538176
NM_007255.3(B4GALT7):c.639+6G>T
NM_007255.3(B4GALT7):c.639+9C>A
NM_007255.3(B4GALT7):c.639+9C>T
NM_007255.3(B4GALT7):c.640-14T>G
NM_007255.3(B4GALT7):c.648G>A (p.Gly216=)
NM_007255.3(B4GALT7):c.654C>T (p.Ser218=) rs780413704
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.678C>T (p.Arg226=)
NM_007255.3(B4GALT7):c.684C>T (p.Asp228=)
NM_007255.3(B4GALT7):c.688G>A (p.Glu230Lys) rs751946151
NM_007255.3(B4GALT7):c.693C>T (p.Phe231=)
NM_007255.3(B4GALT7):c.705T>A (p.Ile235=)
NM_007255.3(B4GALT7):c.720C>T (p.Leu240=)
NM_007255.3(B4GALT7):c.723+12C>T
NM_007255.3(B4GALT7):c.723+13G>T rs775276570
NM_007255.3(B4GALT7):c.723+15del rs773263037
NM_007255.3(B4GALT7):c.723+18C>T
NM_007255.3(B4GALT7):c.723+19del
NM_007255.3(B4GALT7):c.723+3G>A
NM_007255.3(B4GALT7):c.724-20A>C
NM_007255.3(B4GALT7):c.724-21_724-19del rs2127514102
NM_007255.3(B4GALT7):c.724-6C>T
NM_007255.3(B4GALT7):c.72C>T (p.Gly24=)
NM_007255.3(B4GALT7):c.731G>A (p.Arg244His)
NM_007255.3(B4GALT7):c.750T>C (p.Thr250=) rs772835831
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.780C>T (p.Asp260=)
NM_007255.3(B4GALT7):c.781C>T (p.Pro261Ser) rs1768098034
NM_007255.3(B4GALT7):c.786C>A (p.Ala262=)
NM_007255.3(B4GALT7):c.786C>T (p.Ala262=) rs757401980
NM_007255.3(B4GALT7):c.7C>T (p.Pro3Ser) rs749515076
NM_007255.3(B4GALT7):c.828+19A>G
NM_007255.3(B4GALT7):c.828+7G>C
NM_007255.3(B4GALT7):c.829-16C>A
NM_007255.3(B4GALT7):c.829-16C>T
NM_007255.3(B4GALT7):c.829-6C>T rs377212592
NM_007255.3(B4GALT7):c.840G>A (p.Lys280=)
NM_007255.3(B4GALT7):c.844G>A (p.Asp282Asn) rs1768115670
NM_007255.3(B4GALT7):c.864C>T (p.Asn288=)
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.888C>T (p.Ser296=)
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.900G>A (p.Leu300=) rs1421610470
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.915C>A (p.Ala305=)
NM_007255.3(B4GALT7):c.915C>T (p.Ala305=)
NM_007255.3(B4GALT7):c.918C>T (p.Pro306=) rs2127514617
NM_007255.3(B4GALT7):c.924T>A (p.Thr308=)
NM_007255.3(B4GALT7):c.926del (p.Val309fs)
NM_007255.3(B4GALT7):c.927C>T (p.Val309=)
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.945C>T (p.Asp315=) rs2127514653
NM_007255.3(B4GALT7):c.952A>G (p.Lys318Glu) rs2127514659
NM_007255.3(B4GALT7):c.957C>G (p.Thr319=)
NM_007255.3(B4GALT7):c.957C>T (p.Thr319=) rs138973879
NM_007255.3(B4GALT7):c.959C>A (p.Ala320Asp) rs770222232
NM_007255.3(B4GALT7):c.960C>A (p.Ala320=)
NM_007255.3(B4GALT7):c.962C>T (p.Thr321Ile) rs773712777
NM_007255.3(B4GALT7):c.963A>G (p.Thr321=)

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