ClinVar Miner

List of variants reported as uncertain significance for Ehlers-Danlos syndrome, dermatosparaxis type by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_014244.5(ADAMTS2):c.2846A>C (p.Asn949Thr) rs376054177 0.00353
NM_014244.5(ADAMTS2):c.2842G>A (p.Asp948Asn) rs758419331 0.00169
NM_014244.5(ADAMTS2):c.*1361A>G rs142875628 0.00148
NM_014244.5(ADAMTS2):c.*2853G>A rs565652629 0.00121
NM_014244.5(ADAMTS2):c.2795G>A (p.Arg932Gln) rs140022033 0.00108
NM_014244.5(ADAMTS2):c.748G>A (p.Ala250Thr) rs143764421 0.00102
NM_014244.5(ADAMTS2):c.2958+4C>T rs375345961 0.00100
NM_014244.5(ADAMTS2):c.2267T>C (p.Val756Ala) rs141650732 0.00086
NM_014244.5(ADAMTS2):c.*2598A>G rs371733200 0.00083
NM_014244.5(ADAMTS2):c.*183T>C rs184732586 0.00073
NM_014244.5(ADAMTS2):c.*1919T>G rs574968586 0.00066
NM_014244.5(ADAMTS2):c.*707A>G rs149592164 0.00066
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His) rs140621260 0.00066
NM_014244.5(ADAMTS2):c.*524G>A rs565021011 0.00061
NM_014244.5(ADAMTS2):c.1164G>A (p.Pro388=) rs141348218 0.00061
NM_014244.5(ADAMTS2):c.1083T>C (p.Asp361=) rs150079799 0.00054
NM_014244.5(ADAMTS2):c.*813G>C rs577299266 0.00046
NM_014244.5(ADAMTS2):c.2892C>T (p.Pro964=) rs546361762 0.00044
NM_014244.5(ADAMTS2):c.-13C>A rs886060499 0.00040
NM_014244.5(ADAMTS2):c.*2595C>T rs188054405 0.00035
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=) rs141661592 0.00030
NM_014244.5(ADAMTS2):c.724G>A (p.Ala242Thr) rs372103269 0.00026
NM_014244.5(ADAMTS2):c.2818G>A (p.Val940Met) rs367796431 0.00024
NM_014244.5(ADAMTS2):c.*2302C>T rs564480935 0.00022
NM_014244.5(ADAMTS2):c.*2440G>A rs546192004 0.00022
NM_014244.5(ADAMTS2):c.2109C>T (p.Ile703=) rs200210415 0.00022
NM_014244.5(ADAMTS2):c.3154T>G (p.Ser1052Ala) rs201390756 0.00021
NM_014244.5(ADAMTS2):c.1149C>T (p.Thr383=) rs199664723 0.00019
NM_014244.5(ADAMTS2):c.2817C>T (p.Ser939=) rs201215425 0.00018
NM_014244.5(ADAMTS2):c.3342C>T (p.Asn1114=) rs79606317 0.00017
NM_014244.5(ADAMTS2):c.3449A>G (p.Asn1150Ser) rs200982805 0.00016
NM_014244.5(ADAMTS2):c.798C>T (p.Tyr266=) rs139249329 0.00016
NM_014244.5(ADAMTS2):c.*2064A>G rs759155545 0.00015
NM_014244.5(ADAMTS2):c.167G>A (p.Arg56His) rs201167346 0.00014
NM_014244.5(ADAMTS2):c.*222C>T rs886060488 0.00013
NM_014244.5(ADAMTS2):c.1815C>T (p.Tyr605=) rs369654932 0.00012
NM_014244.5(ADAMTS2):c.2994G>T (p.Arg998=) rs780314895 0.00012
NM_014244.5(ADAMTS2):c.784G>A (p.Ala262Thr) rs376820857 0.00012
NM_014244.5(ADAMTS2):c.991G>A (p.Glu331Lys) rs17667857 0.00012
NM_014244.5(ADAMTS2):c.1903G>A (p.Glu635Lys) rs371099308 0.00011
NM_014244.5(ADAMTS2):c.3018C>T (p.Asp1006=) rs150535792 0.00011
NM_014244.5(ADAMTS2):c.562G>C (p.Glu188Gln) rs146064587 0.00011
NM_014244.5(ADAMTS2):c.710A>C (p.Asp237Ala) rs202197821 0.00011
NM_014244.5(ADAMTS2):c.*2147C>T rs886060484 0.00010
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=) rs147259971 0.00010
NM_014244.5(ADAMTS2):c.2292C>T (p.Ala764=) rs188566209 0.00007
NM_014244.5(ADAMTS2):c.2970C>T (p.Thr990=) rs769689633 0.00007
NM_014244.5(ADAMTS2):c.*550G>A rs753995152 0.00006
NM_014244.5(ADAMTS2):c.638G>A (p.Arg213His) rs369215593 0.00006
NM_014244.5(ADAMTS2):c.1349G>A (p.Arg450His) rs752634323 0.00005
NM_014244.5(ADAMTS2):c.3367C>T (p.Leu1123Phe) rs201343773 0.00005
NM_014244.5(ADAMTS2):c.*2035G>A rs1022911243 0.00004
NM_014244.5(ADAMTS2):c.*2511C>A rs1265598763 0.00004
NM_014244.5(ADAMTS2):c.*985C>T rs187198149 0.00004
NM_014244.5(ADAMTS2):c.1031G>A (p.Arg344His) rs201162234 0.00004
NM_014244.5(ADAMTS2):c.1914C>T (p.Asp638=) rs752737484 0.00004
NM_014244.5(ADAMTS2):c.2145C>T (p.Cys715=) rs372661052 0.00004
NM_014244.5(ADAMTS2):c.2751-15G>A rs376602983 0.00004
NM_014244.5(ADAMTS2):c.762G>A (p.Arg254=) rs753246905 0.00004
NM_014244.5(ADAMTS2):c.847G>A (p.Gly283Arg) rs376856341 0.00004
NM_014244.5(ADAMTS2):c.859G>A (p.Val287Ile) rs148737005 0.00004
NM_014244.5(ADAMTS2):c.*2270C>T rs886060483 0.00003
NM_014244.5(ADAMTS2):c.*2589T>G rs886060482 0.00003
NM_014244.5(ADAMTS2):c.*2724A>G rs886060481 0.00003
NM_014244.5(ADAMTS2):c.*843G>A rs778909760 0.00003
NM_014244.5(ADAMTS2):c.*1411G>A rs1222087934 0.00002
NM_014244.5(ADAMTS2):c.2172G>C (p.Val724=) rs150587776 0.00002
NM_014244.5(ADAMTS2):c.2903G>A (p.Arg968Gln) rs777490675 0.00002
NM_014244.5(ADAMTS2):c.3423G>A (p.Glu1141=) rs886060490 0.00002
NM_014244.5(ADAMTS2):c.*174G>A rs1057408727 0.00001
NM_014244.5(ADAMTS2):c.*1777T>C rs1351159498 0.00001
NM_014244.5(ADAMTS2):c.*1941C>T rs886060485 0.00001
NM_014244.5(ADAMTS2):c.*518G>T rs1762600191 0.00001
NM_014244.5(ADAMTS2):c.*615T>C rs1762599095 0.00001
NM_014244.5(ADAMTS2):c.1069G>A (p.Asp357Asn) rs763890617 0.00001
NM_014244.5(ADAMTS2):c.1428G>A (p.Pro476=) rs374288519 0.00001
NM_014244.5(ADAMTS2):c.2290+15C>T rs764259203 0.00001
NM_014244.5(ADAMTS2):c.2594C>T (p.Pro865Leu) rs372549560 0.00001
NM_014244.5(ADAMTS2):c.2688C>T (p.Ala896=) rs370747086 0.00001
NM_014244.5(ADAMTS2):c.2727C>T (p.Asn909=) rs151261888 0.00001
NM_014244.5(ADAMTS2):c.2811G>A (p.Val937=) rs557019144 0.00001
NM_014244.5(ADAMTS2):c.2914C>T (p.Arg972Cys) rs867846785 0.00001
NM_014244.5(ADAMTS2):c.2958+14C>T rs755961602 0.00001
NM_014244.5(ADAMTS2):c.2980G>A (p.Gly994Ser) rs142429109 0.00001
NM_014244.5(ADAMTS2):c.3089-7C>A rs760424301 0.00001
NM_014244.5(ADAMTS2):c.3351C>T (p.Asp1117=) rs777279065 0.00001
NM_014244.5(ADAMTS2):c.661C>G (p.Leu221Val) rs756807336 0.00001
NM_014244.5(ADAMTS2):c.669G>T (p.Gly223=) rs886060495 0.00001
NM_014244.5(ADAMTS2):c.819C>T (p.Gly273=) rs751895494 0.00001
NM_014244.5(ADAMTS2):c.*1077A>G rs1011844643
NM_014244.5(ADAMTS2):c.*1446dup rs151062906
NM_014244.5(ADAMTS2):c.*1589T>C rs533044375
NM_014244.5(ADAMTS2):c.*1747A>C rs886060486
NM_014244.5(ADAMTS2):c.*181C>T rs886060489
NM_014244.5(ADAMTS2):c.*1837T>G rs1003207022
NM_014244.5(ADAMTS2):c.*2169G>A rs1762570717
NM_014244.5(ADAMTS2):c.*2180C>A rs961432521
NM_014244.5(ADAMTS2):c.*2820C>A rs1381911253
NM_014244.5(ADAMTS2):c.*2840T>G rs1008909674
NM_014244.5(ADAMTS2):c.*2923AAC[1] rs886060480
NM_014244.5(ADAMTS2):c.*2951_*2952delinsAA rs386695575
NM_014244.5(ADAMTS2):c.*353C>T rs886060487
NM_014244.5(ADAMTS2):c.*835C>T rs1762596121
NM_014244.5(ADAMTS2):c.-45T>C rs886060500
NM_014244.5(ADAMTS2):c.1123G>A (p.Gly375Ser) rs886060494
NM_014244.5(ADAMTS2):c.1308G>C (p.Ala436=) rs41285549
NM_014244.5(ADAMTS2):c.1325C>A (p.Ala442Asp) rs1763419619
NM_014244.5(ADAMTS2):c.134C>A (p.Pro45His) rs1250691659
NM_014244.5(ADAMTS2):c.1669A>G (p.Ile557Val) rs1400281876
NM_014244.5(ADAMTS2):c.1848C>G (p.Pro616=) rs569510744
NM_014244.5(ADAMTS2):c.2015G>T (p.Arg672Leu) rs200806292
NM_014244.5(ADAMTS2):c.2036G>T (p.Arg679Leu) rs144554943
NM_014244.5(ADAMTS2):c.2276C>A (p.Thr759Asn) rs886060493
NM_014244.5(ADAMTS2):c.2356A>G (p.Lys786Glu) rs979142284
NM_014244.5(ADAMTS2):c.2382G>A (p.Glu794=) rs745407557
NM_014244.5(ADAMTS2):c.258C>G (p.Ala86=) rs886060497
NM_014244.5(ADAMTS2):c.2797A>G (p.Thr933Ala) rs886060492
NM_014244.5(ADAMTS2):c.2834C>T (p.Pro945Leu) rs200309353
NM_014244.5(ADAMTS2):c.2930G>A (p.Gly977Asp) rs1200659345
NM_014244.5(ADAMTS2):c.3072G>T (p.Arg1024Ser) rs1762784582
NM_014244.5(ADAMTS2):c.3078C>T (p.Gly1026=) rs886060491
NM_014244.5(ADAMTS2):c.3261G>A (p.Lys1087=) rs1762622649
NM_014244.5(ADAMTS2):c.447G>A (p.Glu149=) rs886060496
NM_014244.5(ADAMTS2):c.919T>C (p.Leu307=) rs1764038673
NM_014244.5(ADAMTS2):c.95C>T (p.Pro32Leu) rs886060498

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