ClinVar Miner

List of variants reported as likely benign for X-linked Alport syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00420
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573 0.00139
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys) rs144282156 0.00091
NM_033380.3(COL4A5):c.1187C>T (p.Pro396Leu) rs113013606 0.00047
NM_033380.3(COL4A5):c.1588-13T>G rs201708502 0.00047
NM_033380.3(COL4A5):c.3312T>C (p.Gly1104=) rs140829723 0.00032
NM_033380.3(COL4A5):c.2244+9C>T rs759349551 0.00027
NM_033380.3(COL4A5):c.2917+18T>C rs376067886 0.00023
NM_033380.3(COL4A5):c.2400T>C (p.Asp800=) rs372505008 0.00021
NM_033380.3(COL4A5):c.4015+5T>C rs190856675 0.00020
NM_033380.3(COL4A5):c.4117C>A (p.Gln1373Lys) rs147447379 0.00014
NM_033380.3(COL4A5):c.2147-12A>G rs749368555 0.00012
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr) rs142503631 0.00012
NM_033380.3(COL4A5):c.2571A>G (p.Gly857=) rs41311553 0.00011
NM_033380.3(COL4A5):c.3247-10G>A rs369817184 0.00007
NM_033380.3(COL4A5):c.4075A>G (p.Ile1359Val) rs748850424 0.00007
NM_033380.3(COL4A5):c.646-6C>T rs200151467 0.00007
NM_033380.3(COL4A5):c.1497A>G (p.Pro499=) rs772348542 0.00005
NM_033380.3(COL4A5):c.1975A>G (p.Ile659Val) rs201414732 0.00005
NM_033380.3(COL4A5):c.1979C>T (p.Thr660Ile) rs780612276 0.00005
NM_033380.3(COL4A5):c.2348C>T (p.Pro783Leu) rs747288279 0.00005
NM_033380.3(COL4A5):c.4309C>G (p.Gln1437Glu) rs143778018 0.00005
NM_033380.3(COL4A5):c.528A>G (p.Pro176=) rs780845413 0.00005
NM_033380.3(COL4A5):c.3357C>A (p.Gly1119=) rs773019423 0.00004
NM_033380.3(COL4A5):c.3993C>T (p.Leu1331=) rs751858178 0.00004
NM_033380.3(COL4A5):c.1909C>A (p.Gln637Lys) rs368347660 0.00003
NM_033380.3(COL4A5):c.2797C>T (p.Leu933Phe) rs191497639 0.00003
NM_033380.3(COL4A5):c.892-4A>G rs777914438 0.00003
NM_033380.3(COL4A5):c.1469C>T (p.Ser490Leu) rs764543034 0.00002
NM_033380.3(COL4A5):c.1546G>C (p.Glu516Gln) rs770915647 0.00002
NM_033380.3(COL4A5):c.4016-16T>G rs775007873 0.00002
NM_033380.3(COL4A5):c.1423+10C>T rs1161395968 0.00001
NM_033380.3(COL4A5):c.2466A>G (p.Gly822=) rs375746429 0.00001
NM_033380.3(COL4A5):c.3190G>A (p.Asp1064Asn) rs377337832 0.00001
NM_033380.3(COL4A5):c.3268T>C (p.Tyr1090His) rs200042343 0.00001
NM_033380.3(COL4A5):c.4315+9A>T rs764116323 0.00001
NM_033380.3(COL4A5):c.1032+17del rs761615270
NM_033380.3(COL4A5):c.1086GTTGCCTGG[1] (p.363LPG[1]) rs765552839
NM_033380.3(COL4A5):c.1530C>T (p.Phe510=) rs2147809019
NM_033380.3(COL4A5):c.2667T>C (p.Ser889=) rs1258505968
NM_033380.3(COL4A5):c.4247G>A (p.Arg1416His) rs753765957
NM_033380.3(COL4A5):c.892-16del rs775131776

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