ClinVar Miner

List of variants reported as likely benign for Ehlers-Danlos syndrome type 7A

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ClinVar version:
Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=) rs3827848 0.14130
NM_000393.5(COL5A2):c.852+14C>T rs56310996 0.14063
NM_000393.5(COL5A2):c.568-10G>A rs58106884 0.13056
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596 0.09320
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525 0.09281
NM_000393.5(COL5A2):c.*1402T>G rs11186 0.09269
NM_000093.5(COL5A1):c.1569+15C>T rs62574081 0.07860
NM_000393.5(COL5A2):c.*392T>C rs1131518 0.07495
NM_000393.5(COL5A2):c.*298G>A rs7586 0.07221
NM_000093.5(COL5A1):c.*311C>T rs1134114 0.06809
NM_000393.5(COL5A2):c.*639G>A rs73981487 0.05878
NM_000093.5(COL5A1):c.*1443G>A rs10895 0.05700
NM_000393.5(COL5A2):c.*1165G>A rs13914 0.04890
NM_000093.5(COL5A1):c.2745+15A>T rs79481146 0.04340
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=) rs2228559 0.03652
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636 0.03364
NM_000093.5(COL5A1):c.2892C>T (p.Gly964=) rs78511105 0.03168
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_000093.5(COL5A1):c.4230+6G>A rs77176843 0.02700
NM_000093.5(COL5A1):c.*1562A>G rs116561240 0.02592
NM_000093.5(COL5A1):c.4393-9C>T rs11792181 0.02555
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=) rs41310207 0.02534
NM_000093.5(COL5A1):c.1935+8T>G rs79195626 0.02373
NM_000093.5(COL5A1):c.*1642G>A rs116053626 0.02360
NM_000093.5(COL5A1):c.*1922G>A rs74979726 0.02332
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_000093.5(COL5A1):c.*724C>T rs116156416 0.02219
NM_000393.5(COL5A2):c.*2131T>A rs113513554 0.02206
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101 0.01792
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000 0.01714
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=) rs78905646 0.01586
NM_000093.5(COL5A1):c.*1637C>A rs148823980 0.01576
NM_000393.5(COL5A2):c.*1400A>G rs12886 0.01556
NM_000393.5(COL5A2):c.1006-9C>T rs73978832 0.01552
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748 0.01542
NM_000093.5(COL5A1):c.*1806C>T rs11556648 0.01480
NM_000093.5(COL5A1):c.5068-7T>C rs113256540 0.01472
NM_000093.5(COL5A1):c.*660G>A rs73664168 0.01440
NM_000393.5(COL5A2):c.*1669G>A rs76151083 0.01378
NM_000393.5(COL5A2):c.*2062G>A rs77821675 0.01359
NM_000393.5(COL5A2):c.*1904C>T rs75096234 0.01358
NM_000393.5(COL5A2):c.*423C>T rs77413180 0.01358
NM_000393.5(COL5A2):c.*1960A>G rs76482660 0.01355
NM_000393.5(COL5A2):c.*1379A>G rs114330868 0.01303
NM_000093.5(COL5A1):c.2799+4T>C rs75815945 0.01279
NM_000393.5(COL5A2):c.*515C>T rs113311693 0.01221
NM_000393.5(COL5A2):c.*46C>A rs112739705 0.01217
NM_000393.5(COL5A2):c.98-12T>G rs117917418 0.01199
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=) rs61729481 0.01170
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272 0.01007
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00972
NM_000093.5(COL5A1):c.4699-6C>T rs113090154 0.00923
NM_000093.5(COL5A1):c.*629A>G rs150345666 0.00897
NM_000093.5(COL5A1):c.-110A>G rs180741151 0.00852
NM_000393.5(COL5A2):c.-34C>T rs114102476 0.00807
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=) rs61729558 0.00781
NM_000393.5(COL5A2):c.1104+15T>C rs75486409 0.00772
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474 0.00770
NM_000093.5(COL5A1):c.787-15G>A rs150200872 0.00704
NM_000393.5(COL5A2):c.2554-14A>G rs142429770 0.00703
NM_000093.5(COL5A1):c.1566G>A (p.Leu522=) rs61737941 0.00682
NM_000093.5(COL5A1):c.*283G>A rs114171895 0.00635
NM_000093.5(COL5A1):c.1062C>T (p.Asp354=) rs61737708 0.00634
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195 0.00598
NM_000093.5(COL5A1):c.*14C>T rs12553247 0.00580
NM_000393.5(COL5A2):c.*798A>G rs116775405 0.00567
NM_000093.5(COL5A1):c.*269C>T rs372857096 0.00557
NM_000093.5(COL5A1):c.4231-12G>A rs188473199 0.00543
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_000093.5(COL5A1):c.-37G>A rs374979485 0.00508
NM_000093.5(COL5A1):c.*190G>A rs55748801 0.00500
NM_000093.5(COL5A1):c.5137-12C>T rs191758714 0.00488
NM_000393.5(COL5A2):c.*391A>G rs143552248 0.00486
NM_000393.5(COL5A2):c.*1852T>C rs116255986 0.00479
NM_000093.5(COL5A1):c.-382C>G rs555826102 0.00465
NM_000393.5(COL5A2):c.*1076G>A rs114123906 0.00382
NM_000093.5(COL5A1):c.1333-8A>G rs145620416 0.00360
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817 0.00346
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
NM_000093.5(COL5A1):c.573C>T (p.Leu191=) rs116715381 0.00312
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879 0.00306
NM_000093.5(COL5A1):c.240C>T (p.Asp80=) rs79724538 0.00288
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=) rs143443499 0.00283
NM_000393.5(COL5A2):c.2032-7G>A rs141571092 0.00265
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780 0.00245
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075 0.00235
NM_000093.5(COL5A1):c.*58C>T rs56259444 0.00207
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966 0.00199
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) rs61729497 0.00194
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_000393.5(COL5A2):c.-50C>T rs183260194 0.00192
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=) rs61737906 0.00164
NM_000093.5(COL5A1):c.*2429T>C rs56031840 0.00148
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893 0.00130
NM_000093.5(COL5A1):c.1077G>A (p.Glu359=) rs201166370 0.00124
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp) rs139468527 0.00124
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395 0.00119
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) rs148786600 0.00118
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743 0.00118
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596 0.00108
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_000093.5(COL5A1):c.*1343A>G rs77145856 0.00088
NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln) rs149212775 0.00083
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756 0.00076
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388 0.00069
NM_000093.5(COL5A1):c.252C>T (p.Ser84=) rs151293601 0.00066
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=) rs61737719 0.00062
NM_000093.5(COL5A1):c.996C>T (p.Asp332=) rs144763302 0.00058
NM_000093.5(COL5A1):c.2096C>T (p.Thr699Met) rs142313124 0.00057
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=) rs139070070 0.00038
NM_000093.5(COL5A1):c.*424A>G rs574355137 0.00037
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583 0.00036
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=) rs149959668 0.00034
NM_000393.5(COL5A2):c.*446G>A rs570467727 0.00032
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969 0.00029
NM_000093.5(COL5A1):c.*145G>A rs181323324 0.00023
NM_000393.5(COL5A2):c.*561T>C rs564981830 0.00011
NM_000093.5(COL5A1):c.*608G>A rs537858864 0.00009
NM_000093.5(COL5A1):c.*2090C>T rs578207933 0.00006
NM_000093.5(COL5A1):c.761C>T (p.Ser254Leu) rs144844792 0.00006
NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu) rs772448543 0.00006
NM_000093.5(COL5A1):c.*302C>G rs376087882 0.00005
NM_000093.5(COL5A1):c.1270A>G (p.Thr424Ala) rs535363331 0.00003
NM_000093.5(COL5A1):c.2182G>A (p.Ala728Thr) rs575535171 0.00003
NM_000093.5(COL5A1):c.*1260G>A rs557696379 0.00001
NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu) rs575864379 0.00001
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=) rs201299226 0.00001
NM_000088.4(COL1A1):c.*243_*244dup rs56302025
NM_000088.4(COL1A1):c.*681_*682insAGCA rs3840870
NM_000093.5(COL5A1):c.*1653dup rs541530510
NM_000093.5(COL5A1):c.*1807G>C rs374715103
NM_000093.5(COL5A1):c.*948C>G rs142032213
NM_000093.5(COL5A1):c.3906+15G>C rs370937109
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_000393.5(COL5A2):c.*589_*590del rs200554257
NM_000393.5(COL5A2):c.2770-15del rs577038385
NM_000393.5(COL5A2):c.961-3del rs542134887

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