ClinVar Miner

List of variants studied for Ehlers-Danlos syndrome, spondylocheirodysplastic type

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 261
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HGVS dbSNP gnomAD frequency
NM_001128225.3(SLC39A13):c.83A>G (p.Glu28Gly) rs2010519 0.94826
NM_001128225.3(SLC39A13):c.301+20C>T rs755555 0.27982
NM_001128225.3(SLC39A13):c.573G>A (p.Ala191=) rs2293576 0.25113
NM_001128225.3(SLC39A13):c.301+15G>A rs61000762 0.20155
NM_001128225.3(SLC39A13):c.58A>G (p.Thr20Ala) rs61897432 0.11400
NM_001128225.3(SLC39A13):c.83= (p.Glu28=) rs2010519 0.05174
NM_001128225.3(SLC39A13):c.119G>A (p.Arg40Gln) rs35741412 0.01241
NM_001128225.3(SLC39A13):c.1037C>T (p.Pro346Leu) rs35978122 0.00270
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843 0.00217
NM_001128225.3(SLC39A13):c.216C>T (p.Leu72=) rs34986695 0.00211
NM_001128225.3(SLC39A13):c.539C>G (p.Ala180Gly) rs147227015 0.00193
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_001128225.3(SLC39A13):c.571G>A (p.Ala191Thr) rs138998777 0.00061
NM_001128225.3(SLC39A13):c.696C>T (p.His232=) rs371961000 0.00046
NM_001128225.3(SLC39A13):c.415+17G>A rs375059400 0.00029
NM_001128225.3(SLC39A13):c.792C>T (p.Gly264=) rs141753455 0.00029
NM_001128225.3(SLC39A13):c.55C>T (p.Leu19Phe) rs61995938 0.00028
NM_001128225.3(SLC39A13):c.1011C>T (p.Leu337=) rs113058610 0.00025
NM_001128225.3(SLC39A13):c.416-12C>T rs199512587 0.00014
NM_001128225.3(SLC39A13):c.635G>A (p.Arg212Gln) rs200490683 0.00013
NM_001128225.3(SLC39A13):c.78C>A (p.Leu26=) rs140844921 0.00013
NM_001128225.3(SLC39A13):c.302-3T>C rs371414744 0.00012
NM_001128225.3(SLC39A13):c.888C>T (p.Phe296=) rs150556863 0.00011
NM_001128225.3(SLC39A13):c.919+14G>A rs377290130 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_001128225.3(SLC39A13):c.1038G>A (p.Pro346=) rs772924353 0.00006
NM_001128225.3(SLC39A13):c.1043G>A (p.Arg348His) rs770908923 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_001128225.3(SLC39A13):c.889G>A (p.Ala297Thr) rs374739509 0.00005
NM_001128225.3(SLC39A13):c.1041-15G>A rs762412348 0.00004
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.132G>A (p.Thr44=) rs201425631 0.00004
NM_001128225.3(SLC39A13):c.222T>A (p.Gly74=) rs753665968 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.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.491C>T (p.Ala164Val) rs914512778 0.00004
NM_001128225.3(SLC39A13):c.570C>T (p.Ala190=) rs767677018 0.00004
NM_001128225.3(SLC39A13):c.640A>G (p.Ile214Val) rs750123189 0.00004
NM_001128225.3(SLC39A13):c.651C>T (p.Ser217=) rs752707598 0.00004
NM_001128225.3(SLC39A13):c.833G>C (p.Ser278Thr) rs370516835 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.95G>T (p.Gly32Val) rs754558033 0.00004
NM_001128225.3(SLC39A13):c.972C>T (p.Thr324=) rs774905397 0.00004
NM_001128225.3(SLC39A13):c.139C>T (p.Arg47Cys) rs766701277 0.00003
NM_001128225.3(SLC39A13):c.183C>T (p.Ser61=) rs768720700 0.00003
NM_001128225.3(SLC39A13):c.403A>G (p.Ser135Gly) rs377518253 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_001128225.3(SLC39A13):c.786+6C>T rs779162662 0.00003
NM_001128225.3(SLC39A13):c.919+4C>T rs368667805 0.00003
NM_001128225.3(SLC39A13):c.930T>C (p.Ser310=) rs371311030 0.00003
NM_001128225.3(SLC39A13):c.1041-5C>G rs765891564 0.00002
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.302-7C>G rs746687344 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_001128225.3(SLC39A13):c.615C>T (p.Pro205=) rs147495812 0.00002
NM_001128225.3(SLC39A13):c.795C>T (p.Asp265=) rs762829962 0.00002
NM_001128225.3(SLC39A13):c.1074G>A (p.Ala358=) rs576702857 0.00001
NM_001128225.3(SLC39A13):c.1101G>A (p.Ser367=) rs1404886730 0.00001
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.249C>T (p.Val83=) rs1314433275 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.302-17G>A rs775872862 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.348A>G (p.Gly116=) rs202080209 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.399G>A (p.Thr133=) rs539165797 0.00001
NM_001128225.3(SLC39A13):c.427C>T (p.Gln143Ter) rs752159748 0.00001
NM_001128225.3(SLC39A13):c.477C>T (p.Ile159=) rs778348255 0.00001
NM_001128225.3(SLC39A13):c.487C>G (p.Leu163Val) rs2096004287 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.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.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.646-13C>T rs773526046 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.816C>T (p.Ala272=) rs764438635 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.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.991A>G (p.Ile331Val) rs1407619087 0.00001
NM_001128225.3(SLC39A13):c.993C>T (p.Ile331=) rs368704328 0.00001
NM_001128225.3(SLC39A13):c.-9+256T>C
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.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.1051C>T (p.Gln351Ter)
NM_001128225.3(SLC39A13):c.105G>A (p.Pro35=) rs1398817706
NM_001128225.3(SLC39A13):c.1074G>T (p.Ala358=)
NM_001128225.3(SLC39A13):c.1077C>T (p.Gly359=) rs1163501092
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.1094T>C (p.Leu365Pro) rs2096021765
NM_001128225.3(SLC39A13):c.1095G>T (p.Leu365=)
NM_001128225.3(SLC39A13):c.1098C>T (p.Phe366=)
NM_001128225.3(SLC39A13):c.109C>T (p.Leu37Phe)
NM_001128225.3(SLC39A13):c.1100C>T (p.Ser367Leu) rs777112793
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.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.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.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.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.255_269del (p.Leu87_Leu91del) rs2095992049
NM_001128225.3(SLC39A13):c.265A>G (p.Ile89Val) rs754729494
NM_001128225.3(SLC39A13):c.291G>A (p.Leu97=)
NM_001128225.3(SLC39A13):c.299A>C (p.Glu100Ala) rs2153291853
NM_001128225.3(SLC39A13):c.301+12_301+13del
NM_001128225.3(SLC39A13):c.301+14C>T
NM_001128225.3(SLC39A13):c.301+5G>A rs1351664483
NM_001128225.3(SLC39A13):c.302-4G>C
NM_001128225.3(SLC39A13):c.302-6T>C
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.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.377dup (p.Pro127fs)
NM_001128225.3(SLC39A13):c.378G>T (p.Leu126=)
NM_001128225.3(SLC39A13):c.38G>C (p.Gly13Ala) rs148165667
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.483_491del (p.Phe162_Ala164del)
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.497AGA[1] (p.Lys167del)
NM_001128225.3(SLC39A13):c.51C>T (p.Leu17=)
NM_001128225.3(SLC39A13):c.530C>T (p.Thr177Ile) rs1555136368
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.634C>T (p.Arg212Trp)
NM_001128225.3(SLC39A13):c.644A>C (p.Lys215Thr) rs765944959
NM_001128225.3(SLC39A13):c.645+20C>T
NM_001128225.3(SLC39A13):c.645+3G>A rs2153299338
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.652G>A (p.Gly218Ser)
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.694C>T (p.His232Tyr)
NM_001128225.3(SLC39A13):c.69C>T (p.Ala23=)
NM_001128225.3(SLC39A13):c.714C>G (p.Ala238=)
NM_001128225.3(SLC39A13):c.730_732AAG[1] (p.Lys245del) rs2153299658
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+5G>A rs1331180727
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.789G>A (p.Val263=) rs747750601
NM_001128225.3(SLC39A13):c.812G>C (p.Arg271Pro) rs376883075
NM_001128225.3(SLC39A13):c.834C>T (p.Ser278=)
NM_001128225.3(SLC39A13):c.844C>T (p.Leu282=)
NM_001128225.3(SLC39A13):c.849A>T (p.Gln283His) rs1468079148
NM_001128225.3(SLC39A13):c.861G>A (p.Ala287=)
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.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.919+5G>A
NM_001128225.3(SLC39A13):c.924G>A (p.Gly308=)
NM_001128225.3(SLC39A13):c.93G>C (p.Gly31=)
NM_001128225.3(SLC39A13):c.943G>A (p.Glu315Lys)
NM_001128225.3(SLC39A13):c.972C>A (p.Thr324=)

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