ClinVar Miner

List of variants in gene combination COL5A1, LOC101448202 studied for Ehlers-Danlos syndrome, classic type

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Total variants: 58
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HGVS dbSNP gnomAD frequency
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.5068-7T>C rs113256540 0.01472
NM_000093.5(COL5A1):c.4699-6C>T rs113090154 0.00923
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=) rs61729558 0.00781
NM_000093.5(COL5A1):c.*283G>A rs114171895 0.00635
NM_000093.5(COL5A1):c.5137-11T>C rs183495554 0.00512
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817 0.00346
NM_000093.5(COL5A1):c.*58C>T rs56259444 0.00207
NM_000093.5(COL5A1):c.*2429T>C rs56031840 0.00148
NM_000093.5(COL5A1):c.*1343A>G rs77145856 0.00088
NM_000093.5(COL5A1):c.*187C>T rs565085023 0.00085
NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln) rs149212775 0.00083
NM_000093.5(COL5A1):c.*865T>A rs910306671 0.00073
NM_000093.5(COL5A1):c.*42C>G rs374547961 0.00041
NM_000093.5(COL5A1):c.*424A>G rs574355137 0.00037
NM_000093.5(COL5A1):c.*479G>A rs184272423 0.00034
NM_000093.5(COL5A1):c.5370+11C>T rs764644830 0.00032
NM_000093.5(COL5A1):c.*145G>A rs181323324 0.00023
NM_000093.5(COL5A1):c.5137-8C>T rs374377228 0.00017
NM_000093.5(COL5A1):c.*1287C>T rs189437752 0.00012
NM_000093.5(COL5A1):c.4968C>T (p.Val1656=) rs201871481 0.00012
NM_000093.5(COL5A1):c.4643C>T (p.Ser1548Leu) rs147398633 0.00011
NM_000093.5(COL5A1):c.4941C>T (p.Pro1647=) rs747549921 0.00011
NM_000093.5(COL5A1):c.5034G>A (p.Ser1678=) rs148006741 0.00010
NM_000093.5(COL5A1):c.*608G>A rs537858864 0.00009
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met) rs375076580 0.00007
NM_000093.5(COL5A1):c.5154C>T (p.Ala1718=) rs147434147 0.00007
NM_000093.5(COL5A1):c.*2090C>T rs578207933 0.00006
NM_000093.5(COL5A1):c.4892C>T (p.Thr1631Met) rs764446683 0.00006
NM_000093.5(COL5A1):c.5348G>A (p.Arg1783His) rs777045810 0.00006
NM_000093.5(COL5A1):c.*302C>G rs376087882 0.00005
NM_000093.5(COL5A1):c.*489A>G rs142194317 0.00005
NM_000093.5(COL5A1):c.4818C>T (p.Asp1606=) rs190912679 0.00004
NM_000093.5(COL5A1):c.4909C>T (p.Arg1637Cys) rs753433375 0.00003
NM_000093.5(COL5A1):c.4508G>A (p.Arg1503His) rs373653069 0.00002
NM_000093.5(COL5A1):c.4739C>T (p.Ala1580Val) rs528826181 0.00002
NM_000093.5(COL5A1):c.4753C>T (p.Arg1585Trp) rs546865410 0.00002
NM_000093.5(COL5A1):c.4879C>T (p.Arg1627Trp) rs558906147 0.00002
NM_000093.5(COL5A1):c.5371-8T>C rs1352923765 0.00002
NM_000093.5(COL5A1):c.*1260G>A rs557696379 0.00001
NM_000093.5(COL5A1):c.4943A>G (p.Asp1648Gly) rs746071518 0.00001
NM_000093.5(COL5A1):c.5263G>A (p.Ala1755Thr) rs776748227 0.00001
NC_000009.11:g.(?_137721802)_(137734169_?)dup
NC_000009.12:g.(?_134834951)_(134835224_?)del
NC_000009.12:g.(?_134842137)_(134842323_?)del
NC_000009.12:g.134824601del rs1588597744
NM_000093.5(COL5A1):c.*1807G>C rs374715103
NM_000093.5(COL5A1):c.*733C>A rs3196378
NM_000093.5(COL5A1):c.*948C>G rs142032213
NM_000093.5(COL5A1):c.4447G>T (p.Gly1483Cys) rs1554806963
NM_000093.5(COL5A1):c.4464C>A (p.Ile1488=) rs148669237
NM_000093.5(COL5A1):c.4887G>A (p.Leu1629=) rs1588598230
NM_000093.5(COL5A1):c.4916G>C (p.Cys1639Ser) rs80338764
NM_000093.5(COL5A1):c.5155G>T (p.Glu1719Ter) rs776640704
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter) rs1588621711
NM_000093.5(COL5A1):c.5473C>T (p.Gln1825Ter) rs1057518004

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