ClinVar Miner

List of variants reported as benign for Ehlers-Danlos syndrome type 7B by Illumina Laboratory Services, Illumina

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000088.4(COL1A1):c.2298T>C (p.Thr766=) rs2734272 0.99956
NM_000088.4(COL1A1):c.4249-12G>A rs2249492 0.52233
NM_000088.4(COL1A1):c.*744C>T rs1061947 0.15959
NM_000088.4(COL1A1):c.1930-14T>C rs2696247 0.13425
NM_000088.4(COL1A1):c.859-14T>G rs17639446 0.07746
NM_000088.4(COL1A1):c.3459T>C (p.Asp1153=) rs1800218 0.04610
NM_000088.4(COL1A1):c.177G>T (p.Arg59=) rs1057297 0.04003
NM_000088.4(COL1A1):c.298+7C>A rs41317345 0.01333
NM_000088.4(COL1A1):c.*1165C>G rs149419718 0.00794
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=) rs148275339 0.00788
NM_000088.4(COL1A1):c.1821C>T (p.Val607=) rs41316667 0.00750
NM_000088.4(COL1A1):c.904-9G>T rs141726413 0.00680
NM_000088.4(COL1A1):c.*1175T>G rs75713851 0.00595
NM_000088.4(COL1A1):c.*1233G>A rs73987442 0.00516
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) rs1800217 0.00465
NM_000088.4(COL1A1):c.750+12G>T rs79480112 0.00434
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) rs1800219 0.00281
NM_000088.4(COL1A1):c.*1088G>A rs191326459 0.00264
NM_000088.4(COL1A1):c.-57G>A rs2734278 0.00229
NM_000088.4(COL1A1):c.*548C>A rs557681960 0.00220
NM_000088.4(COL1A1):c.*378C>G rs148131473 0.00150
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_000088.4(COL1A1):c.2613+14G>A rs41316685 0.00101
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928 0.00087
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=) rs117672175 0.00073
NM_000088.4(COL1A1):c.3099+7T>C rs201682029 0.00066
NM_000088.4(COL1A1):c.1461+13G>T rs371161009 0.00061
NM_000088.4(COL1A1):c.3423A>C (p.Arg1141=) rs148737409 0.00054
NM_000088.4(COL1A1):c.3424-6C>A rs370865189 0.00044
NM_000088.4(COL1A1):c.462C>T (p.Gly154=) rs41317351 0.00038
NM_000088.4(COL1A1):c.334-5C>A rs115997082 0.00035
NM_000088.4(COL1A1):c.1002+10G>T rs368316440 0.00031
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214 0.00031
NM_000088.4(COL1A1):c.1768-8C>T rs193922142 0.00030
NM_000088.4(COL1A1):c.1983+9G>C rs201091992 0.00029
NM_000088.4(COL1A1):c.*836C>T rs527358320 0.00028
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) rs1800211 0.00021
NM_000088.4(COL1A1):c.957+10C>A rs376179885 0.00020
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=) rs149301001 0.00019
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153 0.00019
NM_000088.4(COL1A1):c.299-15C>T rs199523510 0.00019
NM_000088.4(COL1A1):c.3815-12G>T rs201066018 0.00017
NM_000088.4(COL1A1):c.*202A>G rs564917505 0.00016
NM_000088.4(COL1A1):c.1615-14C>T rs190098788 0.00016
NM_000088.4(COL1A1):c.627C>T (p.Gly209=) rs201136122 0.00013
NM_000088.4(COL1A1):c.2613+13C>T rs368380161 0.00011
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203 0.00008
NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr) rs150803124 0.00006
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434 0.00006
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His) rs371904584 0.00004
NM_000088.4(COL1A1):c.*1265C>T rs567249120 0.00003
NM_000088.4(COL1A1):c.1272C>T (p.Gly424=) rs765154255 0.00003
NM_000088.4(COL1A1):c.229G>A (p.Glu77Lys) rs753683126 0.00003
NM_000088.4(COL1A1):c.*93A>G rs367971695 0.00002
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=) rs543735501 0.00002
NM_000088.4(COL1A1):c.-23G>A rs200689194 0.00001
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe) rs72645362 0.00001
NM_000088.4(COL1A1):c.3815-10C>T rs770568983 0.00001
NM_000088.4(COL1A1):c.*88T>A rs1061237
NM_000088.4(COL1A1):c.*88T>C rs1061237
NM_000088.4(COL1A1):c.-98G>A rs574683904
NM_000088.4(COL1A1):c.1249C>G (p.Pro417Ala) rs72648327
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000088.4(COL1A1):c.1300-8C>T rs41317361
NM_000088.4(COL1A1):c.1983+9G>T rs201091992
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val) rs561374961
NM_000089.4(COL1A2):c.*654_*655insGTTGTCC rs3917

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.