ClinVar Miner

List of variants in gene COL5A1, LOC101448202 studied for Ehlers-Danlos syndrome type 7A

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Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.*2395G>T rs4504708 0.76943
NM_000093.5(COL5A1):c.*83C>T rs13946 0.76018
NM_000093.5(COL5A1):c.*1125A>T rs1134170 0.66610
NM_000093.5(COL5A1):c.*2501T>C rs3128575 0.63348
NM_000093.5(COL5A1):c.*267C>T rs12722 0.43648
NM_000093.5(COL5A1):c.*894T>C rs11103544 0.20603
NM_000093.5(COL5A1):c.*311C>T rs1134114 0.06809
NM_000093.5(COL5A1):c.*1443G>A rs10895 0.05700
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=) rs2228559 0.03652
NM_000093.5(COL5A1):c.*1562A>G rs116561240 0.02592
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.*724C>T rs116156416 0.02219
NM_000093.5(COL5A1):c.*1637C>A rs148823980 0.01576
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_000093.5(COL5A1):c.5190C>T (p.Phe1730=) rs61729481 0.01170
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.5151C>T (p.Asp1717=) rs61729558 0.00781
NM_000093.5(COL5A1):c.*283G>A rs114171895 0.00635
NM_000093.5(COL5A1):c.*14C>T rs12553247 0.00580
NM_000093.5(COL5A1):c.*269C>T rs372857096 0.00557
NM_000093.5(COL5A1):c.*190G>A rs55748801 0.00500
NM_000093.5(COL5A1):c.5137-12C>T rs191758714 0.00488
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.4795G>C (p.Glu1599Gln) rs149212775 0.00083
NM_000093.5(COL5A1):c.*2485G>A rs146334187 0.00057
NM_000093.5(COL5A1):c.*42C>G rs374547961 0.00041
NM_000093.5(COL5A1):c.*55G>A rs533831376 0.00039
NM_000093.5(COL5A1):c.*424A>G rs574355137 0.00037
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=) rs149959668 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.*2294A>T rs571153134 0.00019
NM_000093.5(COL5A1):c.*1734G>A rs886063688 0.00016
NM_000093.5(COL5A1):c.*1845A>G rs553877631 0.00016
NM_000093.5(COL5A1):c.*1848C>G rs886063692 0.00016
NM_000093.5(COL5A1):c.*2175G>A rs781775180 0.00016
NM_000093.5(COL5A1):c.*1887G>A rs886063693 0.00009
NM_000093.5(COL5A1):c.*2410C>G rs886063694 0.00009
NM_000093.5(COL5A1):c.*608G>A rs537858864 0.00009
NM_000093.5(COL5A1):c.*68C>T rs886063679 0.00009
NM_000093.5(COL5A1):c.*2090C>T rs578207933 0.00006
NM_000093.5(COL5A1):c.*302C>G rs376087882 0.00005
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys) rs199703883 0.00005
NM_000093.5(COL5A1):c.*1788G>A rs886063690 0.00004
NM_000093.5(COL5A1):c.*1787G>A rs886063689 0.00002
NM_000093.5(COL5A1):c.4652C>T (p.Thr1551Ile) rs863223460 0.00002
NM_000093.5(COL5A1):c.4955-13C>T rs770897242 0.00002
NM_000093.5(COL5A1):c.*1260G>A rs557696379 0.00001
NM_000093.5(COL5A1):c.*589G>A rs886063682 0.00001
NM_000093.5(COL5A1):c.*596A>G rs775044518 0.00001
NM_000093.5(COL5A1):c.4791T>C (p.Asn1597=) rs886063677 0.00001
NM_000093.5(COL5A1):c.5263G>A (p.Ala1755Thr) rs776748227 0.00001
NM_000093.5(COL5A1):c.5439G>T (p.Val1813=) rs886063678 0.00001
NM_000093.5(COL5A1):c.*1047_*1049dup rs886063686
NM_000093.5(COL5A1):c.*1086ATCT[1] rs16399
NM_000093.5(COL5A1):c.*1653dup rs541530510
NM_000093.5(COL5A1):c.*173C>T rs886063680
NM_000093.5(COL5A1):c.*1807G>C rs374715103
NM_000093.5(COL5A1):c.*1849ACAA[3] rs886063691
NM_000093.5(COL5A1):c.*2252T>C rs529530286
NM_000093.5(COL5A1):c.*235C>T rs886063681
NM_000093.5(COL5A1):c.*700G>C rs750272409
NM_000093.5(COL5A1):c.*727dup rs1554727609
NM_000093.5(COL5A1):c.*733C>A rs3196378
NM_000093.5(COL5A1):c.*865dup rs57599653
NM_000093.5(COL5A1):c.*866_*867insTAG rs886063684
NM_000093.5(COL5A1):c.*867_*868insATAGG rs1554727637
NM_000093.5(COL5A1):c.*870_*873dup rs10628678
NM_000093.5(COL5A1):c.*948C>G rs142032213
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=) rs2228560
NM_000093.5(COL5A1):c.5371-12C>T rs769740900

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