ClinVar Miner

List of variants reported as likely benign for Ehlers-Danlos syndrome, spondylodysplastic type

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 389
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HGVS dbSNP gnomAD frequency
NM_080605.4(B3GALT6):c.138C>T (p.Ser46=) rs190796582 0.15534
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843 0.00217
NM_080605.4(B3GALT6):c.107C>T (p.Pro36Leu) rs568623476 0.00202
NM_001128225.3(SLC39A13):c.539C>G (p.Ala180Gly) rs147227015 0.00193
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_080605.4(B3GALT6):c.110G>A (p.Gly37Glu) rs892958562 0.00109
NM_001128225.3(SLC39A13):c.416-13C>T rs373723938 0.00108
NM_001128225.3(SLC39A13):c.406G>A (p.Ala136Thr) rs141246142 0.00105
NM_001128225.3(SLC39A13):c.646-7T>C rs140597965 0.00087
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val) rs200646244 0.00065
NM_080605.4(B3GALT6):c.853G>A (p.Asp285Asn) rs201547600 0.00061
NM_007255.3(B4GALT7):c.387C>T (p.Tyr129=) rs200124872 0.00047
NM_001128225.3(SLC39A13):c.696C>T (p.His232=) rs371961000 0.00046
NM_080605.4(B3GALT6):c.585G>T (p.Gly195=) rs562616873 0.00036
NM_001128225.3(SLC39A13):c.415+17G>A rs375059400 0.00029
NM_001128225.3(SLC39A13):c.792C>T (p.Gly264=) rs141753455 0.00029
NM_080605.4(B3GALT6):c.834G>A (p.Thr278=) rs368078922 0.00029
NM_007255.3(B4GALT7):c.564G>A (p.Pro188=) rs115756833 0.00028
NM_001128225.3(SLC39A13):c.1011C>T (p.Leu337=) rs113058610 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.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_001128225.3(SLC39A13):c.416-12C>T rs199512587 0.00014
NM_001128225.3(SLC39A13):c.78C>A (p.Leu26=) rs140844921 0.00013
NM_007255.3(B4GALT7):c.717G>C (p.Gly239=) rs149805079 0.00012
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.16C>A (p.Arg6=) rs397514722 0.00010
NM_001128225.3(SLC39A13):c.919+14G>A rs377290130 0.00009
NM_007255.3(B4GALT7):c.489C>T (p.Asp163=) rs372857848 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_080605.4(B3GALT6):c.324C>A (p.Ala108=) rs764859016 0.00009
NM_001128225.3(SLC39A13):c.621C>T (p.Leu207=) rs775396957 0.00008
NM_001128225.3(SLC39A13):c.948G>A (p.Thr316=) rs531462966 0.00007
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_080605.4(B3GALT6):c.508C>T (p.Leu170=) rs759484127 0.00007
NM_080605.4(B3GALT6):c.753G>A (p.Pro251=) rs370328225 0.00007
NM_001128225.3(SLC39A13):c.1038G>A (p.Pro346=) rs772924353 0.00006
NM_001128225.3(SLC39A13):c.1090G>T (p.Val364Leu) rs542593908 0.00006
NM_001128225.3(SLC39A13):c.786+8C>T rs572017658 0.00006
NM_007255.3(B4GALT7):c.315C>T (p.Phe105=) rs150487733 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_080605.4(B3GALT6):c.768G>A (p.Arg256=) rs779285702 0.00006
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_080605.4(B3GALT6):c.859C>T (p.Leu287=) rs766907387 0.00005
NM_001128225.3(SLC39A13):c.1041-15G>A rs762412348 0.00004
NM_001128225.3(SLC39A13):c.132G>A (p.Thr44=) rs201425631 0.00004
NM_001128225.3(SLC39A13):c.222T>A (p.Gly74=) rs753665968 0.00004
NM_001128225.3(SLC39A13):c.336C>T (p.Phe112=) rs751302246 0.00004
NM_001128225.3(SLC39A13):c.381C>T (p.Pro127=) rs780281875 0.00004
NM_001128225.3(SLC39A13):c.432C>T (p.Ser144=) rs755503604 0.00004
NM_001128225.3(SLC39A13):c.570C>T (p.Ala190=) rs767677018 0.00004
NM_001128225.3(SLC39A13):c.651C>T (p.Ser217=) rs752707598 0.00004
NM_001128225.3(SLC39A13):c.919+7G>A rs752106866 0.00004
NM_001128225.3(SLC39A13):c.919+9G>A rs767725133 0.00004
NM_001128225.3(SLC39A13):c.933C>T (p.Pro311=) rs374590960 0.00004
NM_001128225.3(SLC39A13):c.934G>A (p.Ala312Thr) rs749499150 0.00004
NM_001128225.3(SLC39A13):c.972C>T (p.Thr324=) rs774905397 0.00004
NM_007255.3(B4GALT7):c.225C>T (p.Cys75=) rs780427259 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_080605.4(B3GALT6):c.10C>T (p.Leu4=) rs928368471 0.00004
NM_080605.4(B3GALT6):c.630G>A (p.Leu210=) rs547484259 0.00004
NM_001128225.3(SLC39A13):c.183C>T (p.Ser61=) rs768720700 0.00003
NM_001128225.3(SLC39A13):c.405C>T (p.Ser135=) rs371063274 0.00003
NM_001128225.3(SLC39A13):c.627C>T (p.Ala209=) rs768982611 0.00003
NM_001128225.3(SLC39A13):c.736-18C>T rs761758087 0.00003
NM_007255.3(B4GALT7):c.273C>T (p.Gly91=) rs375667092 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_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.576C>T (p.Val192=) rs762952410 0.00003
NM_001128225.3(SLC39A13):c.1041-5C>G rs765891564 0.00002
NM_001128225.3(SLC39A13):c.302-7C>G rs746687344 0.00002
NM_001128225.3(SLC39A13):c.615C>T (p.Pro205=) rs147495812 0.00002
NM_001128225.3(SLC39A13):c.795C>T (p.Asp265=) rs762829962 0.00002
NM_007255.3(B4GALT7):c.136C>T (p.Leu46=) rs748963969 0.00002
NM_007255.3(B4GALT7):c.468G>A (p.Thr156=) rs775059052 0.00002
NM_080605.4(B3GALT6):c.252C>T (p.Arg84=) rs933332160 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_001128225.3(SLC39A13):c.1101G>A (p.Ser367=) rs1404886730 0.00001
NM_001128225.3(SLC39A13):c.249C>T (p.Val83=) rs1314433275 0.00001
NM_001128225.3(SLC39A13):c.302-17G>A rs775872862 0.00001
NM_001128225.3(SLC39A13):c.348A>G (p.Gly116=) rs202080209 0.00001
NM_001128225.3(SLC39A13):c.399G>A (p.Thr133=) rs539165797 0.00001
NM_001128225.3(SLC39A13):c.477C>T (p.Ile159=) rs778348255 0.00001
NM_001128225.3(SLC39A13):c.513C>T (p.Asp171=) rs775273374 0.00001
NM_001128225.3(SLC39A13):c.531C>T (p.Thr177=) rs370685869 0.00001
NM_001128225.3(SLC39A13):c.537+13C>T rs1198805632 0.00001
NM_001128225.3(SLC39A13):c.603G>A (p.Pro201=) rs372236399 0.00001
NM_001128225.3(SLC39A13):c.609A>G (p.Ala203=) rs774755322 0.00001
NM_001128225.3(SLC39A13):c.645+16A>G rs772265206 0.00001
NM_001128225.3(SLC39A13):c.816C>T (p.Ala272=) rs764438635 0.00001
NM_001128225.3(SLC39A13):c.874C>T (p.Leu292=) rs747733289 0.00001
NM_001128225.3(SLC39A13):c.879C>T (p.Gly293=) rs1047022550 0.00001
NM_001128225.3(SLC39A13):c.978C>T (p.Gly326=) rs199818224 0.00001
NM_001128225.3(SLC39A13):c.993C>T (p.Ile331=) rs368704328 0.00001
NM_007255.3(B4GALT7):c.100C>T (p.Leu34=) rs753921062 0.00001
NM_007255.3(B4GALT7):c.15G>A (p.Arg5=) rs778740793 0.00001
NM_007255.3(B4GALT7):c.288A>G (p.Ala96=) rs748595740 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.702C>T (p.Arg234=) rs1768086053 0.00001
NM_007255.3(B4GALT7):c.726T>A (p.Leu242=) rs367964168 0.00001
NM_007255.3(B4GALT7):c.813C>T (p.Ile271=) rs570926723 0.00001
NM_007255.3(B4GALT7):c.879T>C (p.His293=) rs755949684 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.234C>T (p.Ser78=) rs1305896128 0.00001
NM_080605.4(B3GALT6):c.291C>T (p.Gly97=) rs1457990186 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.46C>T (p.Leu16=) rs1057524131 0.00001
NM_080605.4(B3GALT6):c.552C>T (p.Gly184=) rs1256336773 0.00001
NM_080605.4(B3GALT6):c.628C>T (p.Leu210=) rs1300221753 0.00001
NM_080605.4(B3GALT6):c.651C>T (p.Gly217=) rs764901184 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.783C>T (p.Arg261=) rs1031675737 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_001128225.3(SLC39A13):c.1040+15G>T
NM_001128225.3(SLC39A13):c.1040+18G>A
NM_001128225.3(SLC39A13):c.1040+19G>T
NM_001128225.3(SLC39A13):c.1041-5C>A
NM_001128225.3(SLC39A13):c.1044C>T (p.Arg348=)
NM_001128225.3(SLC39A13):c.105G>A (p.Pro35=) rs1398817706
NM_001128225.3(SLC39A13):c.1074G>T (p.Ala358=)
NM_001128225.3(SLC39A13):c.1080C>T (p.Ile360=)
NM_001128225.3(SLC39A13):c.108C>T (p.Ala36=) rs2153290859
NM_001128225.3(SLC39A13):c.1093C>T (p.Leu365=) rs2153302063
NM_001128225.3(SLC39A13):c.1095G>T (p.Leu365=)
NM_001128225.3(SLC39A13):c.1098C>T (p.Phe366=)
NM_001128225.3(SLC39A13):c.1107C>T (p.Phe369=)
NM_001128225.3(SLC39A13):c.111C>T (p.Leu37=) rs777719077
NM_001128225.3(SLC39A13):c.129G>A (p.Ala43=)
NM_001128225.3(SLC39A13):c.141C>T (p.Arg47=)
NM_001128225.3(SLC39A13):c.153G>A (p.Lys51=) rs529299524
NM_001128225.3(SLC39A13):c.156A>G (p.Glu52=)
NM_001128225.3(SLC39A13):c.234G>T (p.Val78=) rs140298838
NM_001128225.3(SLC39A13):c.240C>T (p.Leu80=)
NM_001128225.3(SLC39A13):c.255G>A (p.Pro85=) rs145309500
NM_001128225.3(SLC39A13):c.291G>A (p.Leu97=)
NM_001128225.3(SLC39A13):c.301+12_301+13del
NM_001128225.3(SLC39A13):c.301+14C>T
NM_001128225.3(SLC39A13):c.302-4G>C
NM_001128225.3(SLC39A13):c.302-6T>C
NM_001128225.3(SLC39A13):c.325C>T (p.Leu109=)
NM_001128225.3(SLC39A13):c.352T>C (p.Leu118=)
NM_001128225.3(SLC39A13):c.369G>C (p.Leu123=)
NM_001128225.3(SLC39A13):c.36G>A (p.Ala12=)
NM_001128225.3(SLC39A13):c.378G>T (p.Leu126=)
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) rs140574574
NM_001128225.3(SLC39A13):c.39C>T (p.Gly13=) rs1595877349
NM_001128225.3(SLC39A13):c.402C>T (p.Cys134=)
NM_001128225.3(SLC39A13):c.415+11C>T
NM_001128225.3(SLC39A13):c.415+16C>T
NM_001128225.3(SLC39A13):c.415+23_415+39del
NM_001128225.3(SLC39A13):c.415+9G>A rs1595881246
NM_001128225.3(SLC39A13):c.416-11G>A
NM_001128225.3(SLC39A13):c.420T>C (p.Gly140=)
NM_001128225.3(SLC39A13):c.447A>G (p.Gln149=)
NM_001128225.3(SLC39A13):c.456G>A (p.Gly152=)
NM_001128225.3(SLC39A13):c.459G>A (p.Leu153=)
NM_001128225.3(SLC39A13):c.492G>A (p.Ala164=) rs149634596
NM_001128225.3(SLC39A13):c.492G>C (p.Ala164=)
NM_001128225.3(SLC39A13):c.492G>T (p.Ala164=) rs149634596
NM_001128225.3(SLC39A13):c.51C>T (p.Leu17=)
NM_001128225.3(SLC39A13):c.537+18G>A
NM_001128225.3(SLC39A13):c.537+19G>A
NM_001128225.3(SLC39A13):c.537+8C>A
NM_001128225.3(SLC39A13):c.537+8C>T
NM_001128225.3(SLC39A13):c.538-12_538-11del
NM_001128225.3(SLC39A13):c.538-13C>T
NM_001128225.3(SLC39A13):c.538-20C>T
NM_001128225.3(SLC39A13):c.558T>A (p.Thr186=) rs749530840
NM_001128225.3(SLC39A13):c.567C>T (p.Ala189=)
NM_001128225.3(SLC39A13):c.579T>C (p.Asn193=) rs2096009710
NM_001128225.3(SLC39A13):c.57_58inv (p.Thr20Ala)
NM_001128225.3(SLC39A13):c.582A>T (p.Gly194=)
NM_001128225.3(SLC39A13):c.585C>T (p.Gly195=)
NM_001128225.3(SLC39A13):c.588C>T (p.His196=)
NM_001128225.3(SLC39A13):c.615C>G (p.Pro205=) rs147495812
NM_001128225.3(SLC39A13):c.634C>A (p.Arg212=) rs1242800592
NM_001128225.3(SLC39A13):c.645+20C>T
NM_001128225.3(SLC39A13):c.645+8G>T
NM_001128225.3(SLC39A13):c.645+9C>A
NM_001128225.3(SLC39A13):c.648C>A (p.Val216=)
NM_001128225.3(SLC39A13):c.648C>G (p.Val216=)
NM_001128225.3(SLC39A13):c.681C>T (p.Ile227=) rs768663803
NM_001128225.3(SLC39A13):c.687C>T (p.Asn229=) rs2153299573
NM_001128225.3(SLC39A13):c.693C>T (p.Thr231=) rs2153299580
NM_001128225.3(SLC39A13):c.69C>T (p.Ala23=)
NM_001128225.3(SLC39A13):c.714C>G (p.Ala238=)
NM_001128225.3(SLC39A13):c.735+8G>A
NM_001128225.3(SLC39A13):c.735+8G>T rs568529293
NM_001128225.3(SLC39A13):c.736-10C>A
NM_001128225.3(SLC39A13):c.736-13C>T
NM_001128225.3(SLC39A13):c.736-16G>A
NM_001128225.3(SLC39A13):c.750A>C (p.Thr250=) rs756237499
NM_001128225.3(SLC39A13):c.753C>T (p.Thr251=)
NM_001128225.3(SLC39A13):c.786+12T>C
NM_001128225.3(SLC39A13):c.786+15G>A
NM_001128225.3(SLC39A13):c.786+26_786+41dup rs2153301015
NM_001128225.3(SLC39A13):c.786+7G>A
NM_001128225.3(SLC39A13):c.786+7G>C rs375548129
NM_001128225.3(SLC39A13):c.787-16C>G
NM_001128225.3(SLC39A13):c.834C>T (p.Ser278=)
NM_001128225.3(SLC39A13):c.844C>T (p.Leu282=)
NM_001128225.3(SLC39A13):c.861G>A (p.Ala287=)
NM_001128225.3(SLC39A13):c.909C>A (p.Pro303=) rs527684138
NM_001128225.3(SLC39A13):c.919+13C>A
NM_001128225.3(SLC39A13):c.919+13C>T
NM_001128225.3(SLC39A13):c.919+16G>A
NM_001128225.3(SLC39A13):c.919+19G>C rs1203376008
NM_001128225.3(SLC39A13):c.919+19dup rs747836551
NM_001128225.3(SLC39A13):c.919+20_919+32del
NM_001128225.3(SLC39A13):c.924G>A (p.Gly308=)
NM_001128225.3(SLC39A13):c.93G>C (p.Gly31=)
NM_001128225.3(SLC39A13):c.972C>A (p.Thr324=)
NM_007255.3(B4GALT7):c.105C>T (p.Phe35=)
NM_007255.3(B4GALT7):c.135C>T (p.Ser45=)
NM_007255.3(B4GALT7):c.171G>A (p.Val57=)
NM_007255.3(B4GALT7):c.18G>A (p.Arg6=)
NM_007255.3(B4GALT7):c.204C>A (p.Thr68=) rs1767919814
NM_007255.3(B4GALT7):c.240C>T (p.Pro80=) rs377379133
NM_007255.3(B4GALT7):c.246G>A (p.Glu82=)
NM_007255.3(B4GALT7):c.261C>T (p.Asp87=)
NM_007255.3(B4GALT7):c.267C>T (p.Ser89=)
NM_007255.3(B4GALT7):c.27G>A (p.Ala9=) rs1448005107
NM_007255.3(B4GALT7):c.283C>T (p.Leu95=)
NM_007255.3(B4GALT7):c.300C>T (p.Pro100=)
NM_007255.3(B4GALT7):c.324C>T (p.Leu108=) rs1767927262
NM_007255.3(B4GALT7):c.33G>A (p.Leu11=) rs1005210482
NM_007255.3(B4GALT7):c.351C>T (p.Arg117=)
NM_007255.3(B4GALT7):c.396C>T (p.Asn132=)
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.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.486C>T (p.His162=)
NM_007255.3(B4GALT7):c.492T>C (p.Val164=)
NM_007255.3(B4GALT7):c.50+14G>A
NM_007255.3(B4GALT7):c.50+5GCG[4]
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.519G>A (p.Leu173=)
NM_007255.3(B4GALT7):c.54C>T (p.Ser18=)
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.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+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.678C>T (p.Arg226=)
NM_007255.3(B4GALT7):c.684C>T (p.Asp228=)
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.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.750T>C (p.Thr250=) rs772835831
NM_007255.3(B4GALT7):c.780C>T (p.Asp260=)
NM_007255.3(B4GALT7):c.786C>A (p.Ala262=)
NM_007255.3(B4GALT7):c.786C>T (p.Ala262=) rs757401980
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.864C>T (p.Asn288=)
NM_007255.3(B4GALT7):c.888C>T (p.Ser296=)
NM_007255.3(B4GALT7):c.900G>A (p.Leu300=) rs1421610470
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.927C>T (p.Val309=)
NM_007255.3(B4GALT7):c.945C>T (p.Asp315=) rs2127514653
NM_007255.3(B4GALT7):c.957C>G (p.Thr319=)
NM_007255.3(B4GALT7):c.957C>T (p.Thr319=) rs138973879
NM_007255.3(B4GALT7):c.960C>A (p.Ala320=)
NM_007255.3(B4GALT7):c.963A>G (p.Thr321=)
NM_080605.4(B3GALT6):c.102C>G (p.Ala34=) rs1416591096
NM_080605.4(B3GALT6):c.129G>A (p.Ser43=)
NM_080605.4(B3GALT6):c.12G>A (p.Leu4=) rs868472493
NM_080605.4(B3GALT6):c.141G>A (p.Pro47=)
NM_080605.4(B3GALT6):c.156C>T (p.Pro52=)
NM_080605.4(B3GALT6):c.198G>A (p.Ala66=)
NM_080605.4(B3GALT6):c.210C>A (p.Ala70=) rs1179179554
NM_080605.4(B3GALT6):c.213G>A (p.Glu71=)
NM_080605.4(B3GALT6):c.252C>G (p.Arg84=)
NM_080605.4(B3GALT6):c.255G>T (p.Gly85=) rs1372150716
NM_080605.4(B3GALT6):c.261G>A (p.Pro87=)
NM_080605.4(B3GALT6):c.261G>T (p.Pro87=)
NM_080605.4(B3GALT6):c.285C>A (p.Ala95=)
NM_080605.4(B3GALT6):c.285C>G (p.Ala95=) rs1557526065
NM_080605.4(B3GALT6):c.285C>T (p.Ala95=)
NM_080605.4(B3GALT6):c.324C>T (p.Ala108=)
NM_080605.4(B3GALT6):c.331C>A (p.Arg111=)
NM_080605.4(B3GALT6):c.336G>A (p.Glu112=)
NM_080605.4(B3GALT6):c.345G>A (p.Arg115=) rs1224612114
NM_080605.4(B3GALT6):c.357G>C (p.Leu119=)
NM_080605.4(B3GALT6):c.366G>T (p.Leu122=)
NM_080605.4(B3GALT6):c.384C>G (p.Ala128=) rs1570498417
NM_080605.4(B3GALT6):c.393C>T (p.Asn131=) rs1255662040
NM_080605.4(B3GALT6):c.409C>T (p.Leu137=)
NM_080605.4(B3GALT6):c.456G>C (p.Val152=)
NM_080605.4(B3GALT6):c.459C>G (p.Leu153=)
NM_080605.4(B3GALT6):c.459C>T (p.Leu153=) rs753855818
NM_080605.4(B3GALT6):c.462G>A (p.Lys154=)
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.495G>A (p.Ala165=)
NM_080605.4(B3GALT6):c.499C>T (p.Leu167=)
NM_080605.4(B3GALT6):c.504C>G (p.Ala168=)
NM_080605.4(B3GALT6):c.519C>T (p.Arg173=)
NM_080605.4(B3GALT6):c.546C>T (p.Tyr182=)
NM_080605.4(B3GALT6):c.555C>T (p.Phe185=)
NM_080605.4(B3GALT6):c.558C>T (p.Phe186=)
NM_080605.4(B3GALT6):c.55C>T (p.Leu19=)
NM_080605.4(B3GALT6):c.573C>G (p.Arg191=)
NM_080605.4(B3GALT6):c.576C>G (p.Val192=) rs762952410
NM_080605.4(B3GALT6):c.582G>C (p.Pro194=) rs532162467
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.591C>G (p.Arg197=)
NM_080605.4(B3GALT6):c.597C>T (p.Arg199=)
NM_080605.4(B3GALT6):c.621C>T (p.Asp207=)
NM_080605.4(B3GALT6):c.670C>T (p.Leu224=)
NM_080605.4(B3GALT6):c.682C>T (p.Leu228=)
NM_080605.4(B3GALT6):c.687C>T (p.Arg229=)
NM_080605.4(B3GALT6):c.690C>T (p.Leu230=)
NM_080605.4(B3GALT6):c.702C>T (p.Tyr234=)
NM_080605.4(B3GALT6):c.762C>A (p.Val254=) rs2100994568
NM_080605.4(B3GALT6):c.81C>A (p.Leu27=) rs1334196295
NM_080605.4(B3GALT6):c.828G>C (p.Leu276=) rs1471341896
NM_080605.4(B3GALT6):c.847C>T (p.Leu283=)
NM_080605.4(B3GALT6):c.864G>A (p.Glu288=)
NM_080605.4(B3GALT6):c.877C>T (p.Leu293=)
NM_080605.4(B3GALT6):c.903G>A (p.Lys301=)
NM_080605.4(B3GALT6):c.90G>A (p.Ala30=) rs1638533336
NM_080605.4(B3GALT6):c.918G>A (p.Leu306=)
NM_080605.4(B3GALT6):c.918G>T (p.Leu306=)
NM_080605.4(B3GALT6):c.96C>T (p.Cys32=)
NM_080605.4(B3GALT6):c.989G>A (p.Ter330=)

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