ClinVar Miner

List of variants reported as likely benign for Ehlers-Danlos syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 212
Download table as spreadsheet
HGVS dbSNP
NM_000088.3(COL1A1):c.*21G>C rs201085309
NM_000088.3(COL1A1):c.1249C>T (p.Pro417Ser) rs72648327
NM_000088.3(COL1A1):c.1615-4C>A rs41316657
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.251C>G (p.Ala84Gly) rs775095655
NM_000088.3(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556
NM_000088.3(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473
NM_000088.3(COL1A1):c.3897C>T (p.Cys1299=) rs34940368
NM_000088.3(COL1A1):c.4339G>A (p.Val1447Ile) rs367952133
NM_000088.3(COL1A1):c.4372G>A (p.Val1458Ile) rs138557594
NM_000088.3(COL1A1):c.528C>T (p.Ser176=) rs748856187
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) rs781491172
NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys)
NM_000088.4(COL1A1):c.4276G>A (p.Val1426Met)
NM_000089.3(COL1A2):c.1036-14G>T rs114322680
NM_000089.3(COL1A2):c.1350+11A>T rs193922160
NM_000089.3(COL1A2):c.1564C>T (p.Pro522Ser) rs199732595
NM_000089.3(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163
NM_000089.3(COL1A2):c.2456G>A (p.Arg819His) rs773985005
NM_000089.3(COL1A2):c.2853T>C (p.Pro951=) rs148362963
NM_000089.3(COL1A2):c.3047C>A (p.Pro1016His) rs377278762
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000089.3(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311
NM_000089.3(COL1A2):c.693+12C>A rs767990110
NM_000089.3(COL1A2):c.81+8A>C rs765118884
NM_000089.4(COL1A2):c.2687C>T (p.Pro896Leu)
NM_000089.4(COL1A2):c.3954T>C (p.Ser1318=)
NM_000090.3(COL3A1):c.*923A>T rs146222772
NM_000090.3(COL3A1):c.1762-11T>G rs761637298
NM_000090.3(COL3A1):c.1856C>T (p.Pro619Leu) rs373838193
NM_000090.3(COL3A1):c.2712C>T (p.Pro904=) rs375673185
NM_000090.3(COL3A1):c.3202-14del rs767971610
NM_000090.3(COL3A1):c.333+15T>C rs764678861
NM_000090.3(COL3A1):c.3642C>A (p.Gly1214=) rs184402915
NM_000090.3(COL3A1):c.3694G>A (p.Asp1232Asn) rs147663769
NM_000090.3(COL3A1):c.3777T>C (p.Ala1259=) rs34781844
NM_000090.3(COL3A1):c.432C>T (p.Cys144=) rs539430522
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.4(COL3A1):c.1051-13G>A rs371934572
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000093.5(COL5A1):c.1074C>T (p.Gly358=) rs561440698
NM_000093.5(COL5A1):c.2293C>T (p.Pro765Ser)
NM_000093.5(COL5A1):c.3115-14G>A
NM_000093.5(COL5A1):c.3429G>A (p.Pro1143=)
NM_000093.5(COL5A1):c.432G>T (p.Thr144=)
NM_000093.5(COL5A1):c.4818C>T (p.Asp1606=) rs190912679
NM_000093.5(COL5A1):c.774T>C (p.Asn258=) rs199742873
NM_000302.4(PLOD1):c.*440G>C rs11553681
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896
NM_000302.4(PLOD1):c.1495C>T (p.Arg499Trp) rs149124387
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756
NM_000302.4(PLOD1):c.1756-13C>T rs370882934
NM_000302.4(PLOD1):c.2075C>T (p.Pro692Leu) rs557317492
NM_000302.4(PLOD1):c.540G>A (p.Gln180=) rs35958757
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000393.5(COL5A2):c.*1331C>G
NM_000393.5(COL5A2):c.*1764G>T rs554165132
NM_000393.5(COL5A2):c.-96G>T
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=) rs148229627
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp) rs145258293
NM_000393.5(COL5A2):c.1923+8T>C rs191193125
NM_000393.5(COL5A2):c.1977+12T>G rs202204374
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969
NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser) rs149737825
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=) rs370774253
NM_000393.5(COL5A2):c.263C>A (p.Pro88His) rs149877855
NM_000393.5(COL5A2):c.2661+13G>T rs534626192
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858
NM_000393.5(COL5A2):c.2895A>G (p.Pro965=) rs760946138
NM_000393.5(COL5A2):c.3006A>T (p.Gly1002=) rs756259584
NM_000393.5(COL5A2):c.302G>A (p.Gly101Glu)
NM_000393.5(COL5A2):c.3039+15C>T rs114619770
NM_000393.5(COL5A2):c.3119A>G (p.Asn1040Ser) rs773168254
NM_000393.5(COL5A2):c.3199C>T (p.Arg1067Cys)
NM_000393.5(COL5A2):c.322+8T>C rs372227642
NM_000393.5(COL5A2):c.3471+8A>T rs367643805
NM_000393.5(COL5A2):c.3791C>T (p.Thr1264Met) rs762902468
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583
NM_000393.5(COL5A2):c.4114-11T>C rs587780908
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu) rs540573303
NM_000393.5(COL5A2):c.906+10A>T rs776578452
NM_000393.5(COL5A2):c.98-13T>A rs376487446
NM_001278074.1(COL5A1):c.*2429T>C rs56031840
NM_001278074.1(COL5A1):c.*42C>G rs374547961
NM_001278074.1(COL5A1):c.1163A>G (p.Asn388Ser) rs150837465
NM_001278074.1(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_001278074.1(COL5A1):c.126C>T (p.Leu42=) rs149369116
NM_001278074.1(COL5A1):c.1270A>G (p.Thr424Ala) rs535363331
NM_001278074.1(COL5A1):c.1350C>T (p.Gly450=) rs576332528
NM_001278074.1(COL5A1):c.1440C>T (p.Pro480=) rs150940930
NM_001278074.1(COL5A1):c.2096C>T (p.Thr699Met) rs142313124
NM_001278074.1(COL5A1):c.2182G>A (p.Ala728Thr) rs575535171
NM_001278074.1(COL5A1):c.2386-6G>A rs373383768
NM_001278074.1(COL5A1):c.2493C>T (p.Ile831=) rs199630108
NM_001278074.1(COL5A1):c.252C>T (p.Ser84=) rs151293601
NM_001278074.1(COL5A1):c.2555A>G (p.Asn852Ser) rs148146480
NM_001278074.1(COL5A1):c.2564C>G (p.Pro855Arg) rs150539264
NM_001278074.1(COL5A1):c.2751G>A (p.Pro917=) rs200319017
NM_001278074.1(COL5A1):c.3014C>T (p.Thr1005Met) rs201220311
NM_001278074.1(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010
NM_001278074.1(COL5A1):c.3069C>T (p.Pro1023=) rs139070070
NM_001278074.1(COL5A1):c.3369C>T (p.Gly1123=) rs546229885
NM_001278074.1(COL5A1):c.3402C>T (p.Asp1134=) rs138251296
NM_001278074.1(COL5A1):c.341C>A (p.Ala114Asp) rs147589613
NM_001278074.1(COL5A1):c.3491C>T (p.Pro1164Leu) rs368305377
NM_001278074.1(COL5A1):c.3573A>G (p.Pro1191=) rs564398230
NM_001278074.1(COL5A1):c.3591C>T (p.Asp1197=) rs370349155
NM_001278074.1(COL5A1):c.3627C>T (p.Phe1209=) rs748000980
NM_001278074.1(COL5A1):c.367C>G (p.Gln123Glu) rs142114921
NM_001278074.1(COL5A1):c.37C>T (p.Leu13Phe) rs762625123
NM_001278074.1(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_001278074.1(COL5A1):c.431C>A (p.Thr144Lys) rs561761305
NM_001278074.1(COL5A1):c.4370C>T (p.Pro1457Leu) rs201875250
NM_001278074.1(COL5A1):c.4371G>A (p.Pro1457=) rs756096066
NM_001278074.1(COL5A1):c.4374C>T (p.Asp1458=) rs201335857
NM_001278074.1(COL5A1):c.4383C>T (p.Pro1461=) rs368551709
NM_001278074.1(COL5A1):c.446C>T (p.Pro149Leu) rs369971694
NM_001278074.1(COL5A1):c.4643C>T (p.Ser1548Leu) rs147398633
NM_001278074.1(COL5A1):c.4748C>T (p.Thr1583Met) rs375076580
NM_001278074.1(COL5A1):c.4941C>T (p.Pro1647=) rs747549921
NM_001278074.1(COL5A1):c.4968C>T (p.Val1656=) rs201871481
NM_001278074.1(COL5A1):c.5034G>A (p.Ser1678=) rs148006741
NM_001278074.1(COL5A1):c.5137-11T>C rs183495554
NM_001278074.1(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_001278074.1(COL5A1):c.5154C>T (p.Ala1718=) rs147434147
NM_001278074.1(COL5A1):c.5263G>A (p.Ala1755Thr) rs776748227
NM_001278074.1(COL5A1):c.5370+11C>T rs764644830
NM_001278074.1(COL5A1):c.805G>A (p.Glu269Lys) rs761079177
NM_001278074.1(COL5A1):c.924+14G>A rs200595318
NM_001278074.1(COL5A1):c.996C>T (p.Asp332=) rs144763302
NM_001367624.1(ZNF469):c.*46C>A rs78600508
NM_001367624.1(ZNF469):c.*845T>C rs7187709
NM_001367624.1(ZNF469):c.*907G>A rs1048192
NM_001367624.1(ZNF469):c.*921_*922insG rs11382974
NM_001367624.1(ZNF469):c.10328G>T (p.Gly3443Val) rs140056980
NM_001367624.1(ZNF469):c.10599C>T (p.Pro3533=) rs78022634
NM_001367624.1(ZNF469):c.10708G>A (p.Ala3570Thr) rs57052487
NM_001367624.1(ZNF469):c.10975G>A (p.Gly3659Arg) rs3812951
NM_001367624.1(ZNF469):c.11409G>C (p.Gly3803=) rs150233193
NM_001367624.1(ZNF469):c.1143C>A (p.Pro381=) rs74032864
NM_001367624.1(ZNF469):c.1285G>A (p.Ala429Thr) rs113937803
NM_001367624.1(ZNF469):c.1471G>A (p.Ala491Thr) rs117555121
NM_001367624.1(ZNF469):c.1489G>A (p.Gly497Arg) rs28723506
NM_001367624.1(ZNF469):c.1697C>T (p.Ala566Val) rs181785233
NM_001367624.1(ZNF469):c.1994C>T (p.Pro665Leu) rs184583062
NM_001367624.1(ZNF469):c.2034C>T (p.Ala678=) rs58401704
NM_001367624.1(ZNF469):c.2035G>A (p.Glu679Lys) rs551591362
NM_001367624.1(ZNF469):c.2370G>A (p.Leu790=) rs147859144
NM_001367624.1(ZNF469):c.2407G>T (p.Ala803Ser) rs113484918
NM_001367624.1(ZNF469):c.2574G>C (p.Pro858=) rs74384633
NM_001367624.1(ZNF469):c.2666C>T (p.Ala889Val) rs145186655
NM_001367624.1(ZNF469):c.2803G>A (p.Glu935Lys) rs117995699
NM_001367624.1(ZNF469):c.2814G>A (p.Ala938=) rs140480823
NM_001367624.1(ZNF469):c.2913C>A (p.Gly971=) rs60462217
NM_001367624.1(ZNF469):c.3125G>A (p.Arg1042Gln) rs181077813
NM_001367624.1(ZNF469):c.3516T>C (p.Arg1172=) rs111557381
NM_001367624.1(ZNF469):c.3650C>T (p.Pro1217Leu) rs115183769
NM_001367624.1(ZNF469):c.3894G>C (p.Val1298=) rs115790991
NM_001367624.1(ZNF469):c.4363C>G (p.Leu1455Val) rs116532825
NM_001367624.1(ZNF469):c.4406A>G (p.Tyr1469Cys) rs116072997
NM_001367624.1(ZNF469):c.4421C>T (p.Ala1474Val) rs199897247
NM_001367624.1(ZNF469):c.4434C>T (p.Ser1478=) rs74032865
NM_001367624.1(ZNF469):c.4884G>A (p.Thr1628=) rs141666432
NM_001367624.1(ZNF469):c.4926G>A (p.Ser1642=) rs117310292
NM_001367624.1(ZNF469):c.5087C>T (p.Pro1696Leu) rs115487796
NM_001367624.1(ZNF469):c.5697C>T (p.Ser1899=) rs111986360
NM_001367624.1(ZNF469):c.6032G>A (p.Gly2011Asp) rs79155191
NM_001367624.1(ZNF469):c.62G>A (p.Arg21His) rs145178398
NM_001367624.1(ZNF469):c.6470G>A (p.Arg2157Lys) rs13334190
NM_001367624.1(ZNF469):c.6552G>T (p.Thr2184=) rs12919507
NM_001367624.1(ZNF469):c.6777G>A (p.Glu2259=) rs76442115
NM_001367624.1(ZNF469):c.6779A>G (p.Lys2260Arg) rs75136873
NM_001367624.1(ZNF469):c.6944C>G (p.Pro2315Arg) rs77490207
NM_001367624.1(ZNF469):c.7508C>A (p.Ala2503Glu) rs141218390
NM_001367624.1(ZNF469):c.7805T>C (p.Leu2602Pro) rs150488251
NM_001367624.1(ZNF469):c.8121G>A (p.Ala2707=) rs116696830
NM_001367624.1(ZNF469):c.8212G>A (p.Ala2738Thr) rs3812955
NM_001367624.1(ZNF469):c.8330A>T (p.Asp2777Val) rs3812954
NM_001367624.1(ZNF469):c.869C>T (p.Ala290Val) rs117501524
NM_001367624.1(ZNF469):c.9004A>C (p.Met3002Leu) rs141776185
NM_001367624.1(ZNF469):c.9555C>G (p.Ala3185=) rs273585636
NM_014244.5(ADAMTS2):c.*1437_*1438del rs375426260
NM_014244.5(ADAMTS2):c.*1573A>C rs560216364
NM_014244.5(ADAMTS2):c.*1579_*1585del rs539443462
NM_014244.5(ADAMTS2):c.*1797C>T rs553329835
NM_014244.5(ADAMTS2):c.*2141G>T
NM_014244.5(ADAMTS2):c.*2196T>A rs147985762
NM_014244.5(ADAMTS2):c.*2397G>A
NM_014244.5(ADAMTS2):c.*2420A>G
NM_014244.5(ADAMTS2):c.*2587T>C rs140304884
NM_014244.5(ADAMTS2):c.*816C>T rs116130524
NM_014244.5(ADAMTS2):c.*977G>A rs138084603
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=) rs41285549
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=) rs61757478
NM_014244.5(ADAMTS2):c.1488C>T (p.Phe496=) rs147438064
NM_014244.5(ADAMTS2):c.2480G>A (p.Arg827Gln) rs35445112
NM_014244.5(ADAMTS2):c.2751-4G>A rs112155474
NM_014244.5(ADAMTS2):c.47_49TGC[7] (p.Leu23del) rs568040559
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro) rs565885690
NM_014244.5(ADAMTS2):c.764G>A (p.Arg255Gln) rs117222015
NM_018699.3(PRDM5):c.1066T>A (p.Ser356Thr) rs140634372
NM_018699.3(PRDM5):c.1283-5C>T rs185134294
NM_018699.3(PRDM5):c.660G>A (p.Gln220=) rs74320998
NM_018699.3(PRDM5):c.849G>A (p.Gln283=) rs17051264

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