ClinVar Miner

List of variants in gene COL4A5 reported as likely benign by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.4500A>G (p.Gly1500=) rs145378707 0.00920
NM_033380.3(COL4A5):c.909T>C (p.Asp303=) rs144586397 0.00122
NM_033380.3(COL4A5):c.580A>G (p.Ile194Val) rs145970300 0.00099
NM_033380.3(COL4A5):c.834+8C>A rs201717817 0.00066
NM_033380.3(COL4A5):c.1187C>T (p.Pro396Leu) rs113013606 0.00047
NM_033380.3(COL4A5):c.2768-10T>C rs370284884 0.00038
NM_033380.3(COL4A5):c.4353A>T (p.Gly1451=) rs146884759 0.00028
NM_033380.3(COL4A5):c.3771A>G (p.Gln1257=) rs148046007 0.00025
NM_033380.3(COL4A5):c.2979T>G (p.Pro993=) rs41306255 0.00024
NM_033380.3(COL4A5):c.2400T>C (p.Asp800=) rs372505008 0.00021
NM_033380.3(COL4A5):c.3296C>T (p.Ser1099Phe) rs767087695 0.00021
NM_033380.3(COL4A5):c.4015+5T>C rs190856675 0.00020
NM_033380.3(COL4A5):c.2017A>G (p.Arg673Gly) rs200348997 0.00017
NM_033380.3(COL4A5):c.2692A>G (p.Met898Val) rs104886192 0.00017
NM_033380.3(COL4A5):c.858T>C (p.Gly286=) rs183837448 0.00014
NM_033380.3(COL4A5):c.3251A>C (p.Glu1084Ala) rs146873772 0.00013
NM_033380.3(COL4A5):c.2571A>G (p.Gly857=) rs41311553 0.00012
NM_033380.3(COL4A5):c.4315+9A>T rs764116323 0.00012
NM_033380.3(COL4A5):c.4217-6C>T rs764326196 0.00010
NM_033380.3(COL4A5):c.568A>G (p.Ile190Val) rs367890539 0.00010
NM_033380.3(COL4A5):c.861G>A (p.Glu287=) rs41300173 0.00010
NM_033380.3(COL4A5):c.4075A>G (p.Ile1359Val) rs748850424 0.00009
NM_033380.3(COL4A5):c.4741G>T (p.Ala1581Ser) rs151130451 0.00009
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys) rs150305490 0.00008
NM_033380.3(COL4A5):c.1350A>G (p.Ile450Met) rs201481496 0.00007
NM_033380.3(COL4A5):c.3247-10G>A rs369817184 0.00007
NM_033380.3(COL4A5):c.3403A>G (p.Ile1135Val) rs747614562 0.00007
NM_033380.3(COL4A5):c.646-6C>T rs200151467 0.00007
NM_033380.3(COL4A5):c.1586C>A (p.Pro529Gln) rs758983710 0.00006
NM_033380.3(COL4A5):c.3468T>C (p.His1156=) rs769984503 0.00006
NM_033380.3(COL4A5):c.3923A>G (p.Gln1308Arg) rs104886399 0.00006
NM_033380.3(COL4A5):c.1584A>G (p.Leu528=) rs370355907 0.00005
NM_033380.3(COL4A5):c.4209C>T (p.Gly1403=) rs752953167 0.00005
NM_033380.3(COL4A5):c.1043G>A (p.Arg348Lys) rs377663039 0.00004
NM_033380.3(COL4A5):c.443C>T (p.Pro148Leu) rs773404950 0.00004
NM_033380.3(COL4A5):c.1827T>A (p.Gly609=) rs756142410 0.00003
NM_033380.3(COL4A5):c.1909C>A (p.Gln637Lys) rs368347660 0.00003
NM_033380.3(COL4A5):c.2604C>T (p.Pro868=) rs781337825 0.00003
NM_033380.3(COL4A5):c.3684C>T (p.His1228=) rs369744863 0.00003
NM_033380.3(COL4A5):c.4175T>C (p.Leu1392Pro) rs754420396 0.00003
NM_033380.3(COL4A5):c.1296G>C (p.Gly432=) rs755291471 0.00002
NM_033380.3(COL4A5):c.1810C>A (p.Pro604Thr) rs183934559 0.00002
NM_033380.3(COL4A5):c.750A>G (p.Pro250=) rs1163287222 0.00002
NM_033380.3(COL4A5):c.142-4G>T rs780759600 0.00001
NM_033380.3(COL4A5):c.1635T>G (p.Gly545=) rs1329747854 0.00001
NM_033380.3(COL4A5):c.213G>A (p.Pro71=) rs764172210 0.00001
NM_033380.3(COL4A5):c.2362C>T (p.Arg788Cys) rs762935451 0.00001
NM_033380.3(COL4A5):c.2466A>G (p.Gly822=) rs375746429 0.00001
NM_033380.3(COL4A5):c.2657C>G (p.Ala886Gly) rs367714441 0.00001
NM_033380.3(COL4A5):c.3084C>T (p.Thr1028=) rs141043288 0.00001
NM_033380.3(COL4A5):c.779A>G (p.Gln260Arg) rs372889859 0.00001
NM_033380.3(COL4A5):c.3357C>A (p.Gly1119=) rs773019423
NM_033380.3(COL4A5):c.3829C>A (p.Pro1277Thr) rs761470284
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys) rs144282156
NM_033380.3(COL4A5):c.4529-6T>C rs775079914

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