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

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 154

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HGVS	dbSNP	gnomAD frequency
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu)	rs148291843	0.00217
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.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.1011C>T (p.Leu337=)	rs113058610	0.00025
NM_001128225.3(SLC39A13):c.416-12C>T	rs199512587	0.00014
NM_001128225.3(SLC39A13):c.78C>A (p.Leu26=)	rs140844921	0.00013
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.1090G>T (p.Val364Leu)	rs542593908	0.00006
NM_001128225.3(SLC39A13):c.786+8C>T	rs572017658	0.00006
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_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_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_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_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=)

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