ClinVar Miner

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

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ClinVar version:
Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843 0.00207
NM_001128225.3(SLC39A13):c.539C>G (p.Ala180Gly) rs147227015 0.00180
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.696C>T (p.His232=) rs371961000 0.00044
NM_001128225.3(SLC39A13):c.415+17G>A rs375059400 0.00026
NM_001128225.3(SLC39A13):c.792C>T (p.Gly264=) rs141753455 0.00025
NM_001128225.3(SLC39A13):c.1011C>T (p.Leu337=) rs113058610 0.00024
NM_001128225.3(SLC39A13):c.416-12C>T rs199512587 0.00013
NM_001128225.3(SLC39A13):c.78C>A (p.Leu26=) rs140844921 0.00013
NM_001128225.3(SLC39A13):c.1090G>T (p.Val364Leu) rs542593908 0.00009
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.420T>C (p.Gly140=) rs375324398 0.00007
NM_001128225.3(SLC39A13):c.645+8G>T rs367755125 0.00007
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.153G>A (p.Lys51=) rs529299524 0.00006
NM_001128225.3(SLC39A13):c.415+16C>T rs765260943 0.00006
NM_001128225.3(SLC39A13):c.786+8C>T rs572017658 0.00006
NM_001128225.3(SLC39A13):c.416-11G>A rs367832083 0.00005
NM_001128225.3(SLC39A13):c.537+19G>A rs372058980 0.00005
NM_001128225.3(SLC39A13):c.570C>T (p.Ala190=) rs767677018 0.00005
NM_001128225.3(SLC39A13):c.736-13C>T rs56298473 0.00005
NM_001128225.3(SLC39A13):c.919+13C>T rs371922603 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.651C>T (p.Ser217=) rs752707598 0.00004
NM_001128225.3(SLC39A13):c.787-16C>G rs576761923 0.00004
NM_001128225.3(SLC39A13):c.861G>A (p.Ala287=) rs755380176 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.934G>A (p.Ala312Thr) rs749499150 0.00004
NM_001128225.3(SLC39A13):c.1040+19G>T rs749525550 0.00003
NM_001128225.3(SLC39A13):c.129G>A (p.Ala43=) rs765595275 0.00003
NM_001128225.3(SLC39A13):c.183C>T (p.Ser61=) rs768720700 0.00003
NM_001128225.3(SLC39A13):c.301+14C>T rs749827484 0.00003
NM_001128225.3(SLC39A13):c.325C>T (p.Leu109=) rs146848042 0.00003
NM_001128225.3(SLC39A13):c.36G>A (p.Ala12=) rs748005564 0.00003
NM_001128225.3(SLC39A13):c.405C>T (p.Ser135=) rs371063274 0.00003
NM_001128225.3(SLC39A13):c.432C>T (p.Ser144=) rs755503604 0.00003
NM_001128225.3(SLC39A13):c.615C>T (p.Pro205=) rs147495812 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.919+16G>A rs777357507 0.00003
NM_001128225.3(SLC39A13):c.933C>T (p.Pro311=) rs374590960 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.537+8C>A rs766588222 0.00002
NM_001128225.3(SLC39A13):c.538-20C>T rs959658042 0.00002
NM_001128225.3(SLC39A13):c.681C>T (p.Ile227=) rs768663803 0.00002
NM_001128225.3(SLC39A13):c.795C>T (p.Asp265=) rs762829962 0.00002
NM_001128225.3(SLC39A13):c.972C>T (p.Thr324=) rs774905397 0.00002
NM_001128225.3(SLC39A13):c.1040+15G>T rs754870122 0.00001
NM_001128225.3(SLC39A13):c.1040+18G>A rs781094623 0.00001
NM_001128225.3(SLC39A13):c.1080C>T (p.Ile360=) rs1407678098 0.00001
NM_001128225.3(SLC39A13):c.1095G>T (p.Leu365=) rs2096021779 0.00001
NM_001128225.3(SLC39A13):c.1098C>T (p.Phe366=) rs2096021823 0.00001
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.302-4G>C rs1391199540 0.00001
NM_001128225.3(SLC39A13):c.348A>G (p.Gly116=) rs202080209 0.00001
NM_001128225.3(SLC39A13):c.352T>C (p.Leu118=) rs2096001621 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.51C>T (p.Leu17=) rs775728705 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.537+18G>A rs1199627203 0.00001
NM_001128225.3(SLC39A13):c.567C>T (p.Ala189=) rs774704127 0.00001
NM_001128225.3(SLC39A13):c.585C>T (p.Gly195=) rs757941993 0.00001
NM_001128225.3(SLC39A13):c.588C>T (p.His196=) rs2096009774 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.645+20C>T rs1439964023 0.00001
NM_001128225.3(SLC39A13):c.645+9C>A rs754497383 0.00001
NM_001128225.3(SLC39A13):c.69C>T (p.Ala23=) rs1347908084 0.00001
NM_001128225.3(SLC39A13):c.753C>T (p.Thr251=) rs2096015429 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_001128225.3(SLC39A13):c.1041-19A>G
NM_001128225.3(SLC39A13):c.1041-5C>A rs765891564
NM_001128225.3(SLC39A13):c.1044C>T (p.Arg348=) rs2496023441
NM_001128225.3(SLC39A13):c.1053G>A (p.Gln351=)
NM_001128225.3(SLC39A13):c.1057C>T (p.Leu353=)
NM_001128225.3(SLC39A13):c.105G>A (p.Pro35=) rs1398817706
NM_001128225.3(SLC39A13):c.1068C>T (p.Leu356=)
NM_001128225.3(SLC39A13):c.1074G>T (p.Ala358=) rs576702857
NM_001128225.3(SLC39A13):c.1077C>T (p.Gly359=) rs1163501092
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.1107C>T (p.Phe369=) rs770114362
NM_001128225.3(SLC39A13):c.111C>T (p.Leu37=) rs777719077
NM_001128225.3(SLC39A13):c.141C>T (p.Arg47=) rs2495933464
NM_001128225.3(SLC39A13):c.156A>G (p.Glu52=) rs2495933772
NM_001128225.3(SLC39A13):c.234G>T (p.Val78=) rs140298838
NM_001128225.3(SLC39A13):c.240C>T (p.Leu80=) rs2095991957
NM_001128225.3(SLC39A13):c.255G>A (p.Pro85=) rs145309500
NM_001128225.3(SLC39A13):c.255G>C (p.Pro85=)
NM_001128225.3(SLC39A13):c.291G>A (p.Leu97=) rs2495938133
NM_001128225.3(SLC39A13):c.301+12_301+13del rs2095992602
NM_001128225.3(SLC39A13):c.302-18C>T
NM_001128225.3(SLC39A13):c.302-6T>C rs1595880874
NM_001128225.3(SLC39A13):c.369G>C (p.Leu123=) rs746380580
NM_001128225.3(SLC39A13):c.378G>A (p.Leu126=)
NM_001128225.3(SLC39A13):c.378G>T (p.Leu126=) rs2495960502
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=) rs377636942
NM_001128225.3(SLC39A13):c.411C>T (p.Ser137=)
NM_001128225.3(SLC39A13):c.415+11C>T rs2495962064
NM_001128225.3(SLC39A13):c.415+23_415+39del rs1565663309
NM_001128225.3(SLC39A13):c.415+9G>A rs1595881246
NM_001128225.3(SLC39A13):c.416-20G>A
NM_001128225.3(SLC39A13):c.416-20_416-16del
NM_001128225.3(SLC39A13):c.447A>G (p.Gln149=) rs2495969977
NM_001128225.3(SLC39A13):c.456G>A (p.Gly152=) rs2096004180
NM_001128225.3(SLC39A13):c.459G>A (p.Leu153=) rs1418143058
NM_001128225.3(SLC39A13):c.492G>A (p.Ala164=) rs149634596
NM_001128225.3(SLC39A13):c.492G>C (p.Ala164=) rs149634596
NM_001128225.3(SLC39A13):c.492G>T (p.Ala164=) rs149634596
NM_001128225.3(SLC39A13):c.537+11C>T
NM_001128225.3(SLC39A13):c.537+8C>T rs766588222
NM_001128225.3(SLC39A13):c.538-12_538-11del rs2495985087
NM_001128225.3(SLC39A13):c.538-13C>T rs2495985111
NM_001128225.3(SLC39A13):c.540C>T (p.Ala180=)
NM_001128225.3(SLC39A13):c.558T>A (p.Thr186=) rs749530840
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=) rs2495986561
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.642C>T (p.Ile214=)
NM_001128225.3(SLC39A13):c.646-14T>C
NM_001128225.3(SLC39A13):c.648C>A (p.Val216=) rs767033474
NM_001128225.3(SLC39A13):c.648C>G (p.Val216=) rs767033474
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.714C>G (p.Ala238=) rs2495990906
NM_001128225.3(SLC39A13):c.735+8G>A rs568529293
NM_001128225.3(SLC39A13):c.735+8G>T rs568529293
NM_001128225.3(SLC39A13):c.735+9C>T
NM_001128225.3(SLC39A13):c.736-10C>A rs1276151593
NM_001128225.3(SLC39A13):c.736-16G>A rs2496005586
NM_001128225.3(SLC39A13):c.750A>C (p.Thr250=) rs756237499
NM_001128225.3(SLC39A13):c.786+12T>C rs2496006903
NM_001128225.3(SLC39A13):c.786+15G>A rs746634615
NM_001128225.3(SLC39A13):c.786+26_786+41dup rs2153301015
NM_001128225.3(SLC39A13):c.786+7G>A rs375548129
NM_001128225.3(SLC39A13):c.786+7G>C rs375548129
NM_001128225.3(SLC39A13):c.786+9T>C
NM_001128225.3(SLC39A13):c.819C>A (p.Gly273=)
NM_001128225.3(SLC39A13):c.834C>T (p.Ser278=) rs1157780502
NM_001128225.3(SLC39A13):c.844C>T (p.Leu282=) rs1595886455
NM_001128225.3(SLC39A13):c.909C>A (p.Pro303=) rs527684138
NM_001128225.3(SLC39A13):c.919+13C>A rs371922603
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 rs1565668258
NM_001128225.3(SLC39A13):c.919+8C>T
NM_001128225.3(SLC39A13):c.924G>A (p.Gly308=) rs2496018742
NM_001128225.3(SLC39A13):c.934G>T (p.Ala312Ser)
NM_001128225.3(SLC39A13):c.93G>C (p.Gly31=) rs2495931975
NM_001128225.3(SLC39A13):c.951A>C (p.Ala317=)
NM_001128225.3(SLC39A13):c.972C>A (p.Thr324=) rs774905397

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