ClinVar Miner

List of variants reported as likely benign for Alport syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877 0.08050
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=) rs75519005 0.01995
NM_000092.5(COL4A4):c.*581G>A rs79659665 0.01689
NM_000092.5(COL4A4):c.3486A>G (p.Pro1162=) rs2229815 0.01659
NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile) rs34236495 0.01622
NM_000092.5(COL4A4):c.2439A>T (p.Gly813=) rs34835657 0.01612
NM_000092.5(COL4A4):c.1323T>C (p.Pro441=) rs35830639 0.01576
NM_000092.5(COL4A4):c.4656G>A (p.Met1552Ile) rs77104306 0.01346
NM_000092.5(COL4A4):c.2791G>A (p.Ala931Thr) rs75875272 0.01243
NM_000092.5(COL4A4):c.2796G>A (p.Lys932=) rs34591179 0.01236
NM_000092.5(COL4A4):c.2717-5A>T rs1800519 0.01182
NM_000091.5(COL4A3):c.*1360T>A rs116377856 0.00953
NM_000092.5(COL4A4):c.*3690A>G rs149243282 0.00945
NM_000092.5(COL4A4):c.*841G>A rs11556632 0.00854
NM_000092.5(COL4A4):c.*4164C>T rs147109071 0.00850
NM_000092.5(COL4A4):c.198A>G (p.Pro66=) rs147947155 0.00681
NM_000092.5(COL4A4):c.*472A>T rs77268230 0.00670
NM_000092.5(COL4A4):c.*2311C>T rs77079951 0.00666
NM_000092.5(COL4A4):c.*2239T>C rs79443960 0.00664
NM_000092.5(COL4A4):c.3871C>G (p.Pro1291Ala) rs34728338 0.00619
NM_000091.5(COL4A3):c.*2145A>C rs115394347 0.00614
NM_000091.5(COL4A3):c.*2182C>T rs114535536 0.00613
NM_000092.5(COL4A4):c.-101-4A>G rs147186690 0.00562
NM_000092.5(COL4A4):c.*718G>C rs183147767 0.00543
NM_000092.5(COL4A4):c.2907A>C (p.Ser969=) rs116354015 0.00506
NM_000091.5(COL4A3):c.*811A>C rs116568659 0.00504
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_000092.5(COL4A4):c.*3636C>T rs147995299 0.00469
NM_000092.5(COL4A4):c.4082-8C>T rs139571413 0.00420
NM_000091.5(COL4A3):c.4707A>T (p.Pro1569=) rs113401495 0.00364
NM_000092.5(COL4A4):c.50A>G (p.Lys17Arg) rs114969026 0.00341
NM_000091.5(COL4A3):c.3566-10T>C rs114719458 0.00331
NM_000092.5(COL4A4):c.5016A>G (p.Glu1672=) rs34761049 0.00264
NM_000092.5(COL4A4):c.4731G>A (p.Ala1577=) rs200639109 0.00257
NM_000091.5(COL4A3):c.3031C>T (p.Arg1011Cys) rs73996408 0.00233
NM_000091.5(COL4A3):c.4665G>A (p.Ala1555=) rs200858199 0.00210
NM_000092.5(COL4A4):c.2717-15C>A rs143886681 0.00199
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408 0.00159
NM_000091.5(COL4A3):c.2886C>T (p.Phe962=) rs77846212 0.00123
NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=) rs141552752 0.00121
NM_000092.5(COL4A4):c.1776T>C (p.Ala592=) rs188655353 0.00101
NM_000091.5(COL4A3):c.222G>T (p.Pro74=) rs187950806 0.00096
NM_000092.5(COL4A4):c.195T>C (p.Gly65=) rs201278620 0.00082
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=) rs200454769 0.00058
NM_000092.5(COL4A4):c.4185G>A (p.Gly1395=) rs55978207 0.00057
NM_000092.5(COL4A4):c.1812T>C (p.His604=) rs371381056 0.00056
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=) rs374510402 0.00048
NM_000092.5(COL4A4):c.2877C>T (p.Pro959=) rs79470996 0.00035
NM_000091.5(COL4A3):c.*2228T>C rs367785196 0.00034
NM_000091.5(COL4A3):c.1353C>T (p.His451=) rs189364374 0.00025
NM_000092.5(COL4A4):c.193-9C>G rs190570269 0.00020
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln) rs373741172 0.00020
NM_000092.5(COL4A4):c.4195A>T (p.Met1399Leu) rs149117087 0.00019
NM_000092.5(COL4A4):c.3885T>C (p.Gly1295=) rs199839937 0.00018
NM_000092.5(COL4A4):c.4857T>C (p.Pro1619=) rs184776061 0.00017
NM_000091.5(COL4A3):c.1362A>T (p.Pro454=) rs377373374 0.00016
NM_000092.5(COL4A4):c.2430C>G (p.Gly810=) rs769363556 0.00015
NM_000091.5(COL4A3):c.3751+7G>A rs750554079 0.00014
NM_000092.5(COL4A4):c.3531C>T (p.Asn1177=) rs201699649 0.00011
NM_000092.5(COL4A4):c.3705A>G (p.Pro1235=) rs752638078 0.00010
NM_000092.5(COL4A4):c.2171G>A (p.Arg724His) rs200146486 0.00009
NM_000092.5(COL4A4):c.2751C>T (p.Pro917=) rs544472944 0.00008
NM_000091.5(COL4A3):c.1917C>T (p.Pro639=) rs369320502 0.00004
NM_000092.5(COL4A4):c.1665G>A (p.Ala555=) rs137880920 0.00004
NM_000092.5(COL4A4):c.4975T>C (p.Leu1659=) rs368044748 0.00004
NM_000091.5(COL4A3):c.1437C>T (p.Cys479=) rs748691382 0.00003
NM_000091.5(COL4A3):c.3588C>G (p.Ala1196=) rs767337248 0.00003
NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val) rs199581317 0.00003
NM_000092.5(COL4A4):c.1488T>C (p.Pro496=) rs1405969453 0.00003
NM_000092.5(COL4A4):c.3450T>A (p.Pro1150=) rs751859861 0.00003
NM_000092.5(COL4A4):c.1893A>G (p.Gly631=) rs370886041 0.00002
NM_000092.5(COL4A4):c.861A>G (p.Pro287=) rs747613100 0.00002
NM_000091.5(COL4A3):c.159T>C (p.Phe53=) rs1217941846 0.00001
NM_000091.5(COL4A3):c.1674C>T (p.Leu558=) rs762241502 0.00001
NM_000091.5(COL4A3):c.1944C>T (p.Leu648=) rs199554662 0.00001
NM_000091.5(COL4A3):c.315T>C (p.Pro105=) rs371460434 0.00001
NM_000091.5(COL4A3):c.3210+8G>A rs545181831 0.00001
NM_000091.5(COL4A3):c.4329G>A (p.Thr1443=) rs778174094 0.00001
NM_000091.5(COL4A3):c.45G>A (p.Pro15=) rs542100614 0.00001
NM_000092.5(COL4A4):c.2511G>A (p.Gly837=) rs767522216 0.00001
NM_000092.5(COL4A4):c.3351T>C (p.Pro1117=) rs747784952 0.00001
NM_000092.5(COL4A4):c.3495G>A (p.Pro1165=) rs774011820 0.00001
NM_000091.5(COL4A3):c.*2834ATA[1] rs137947510
NM_000091.5(COL4A3):c.1368T>C (p.Tyr456=) rs766591906
NM_000091.5(COL4A3):c.1887G>A (p.Thr629=) rs201109911
NM_000091.5(COL4A3):c.2184G>A (p.Glu728=) rs779837475
NM_000091.5(COL4A3):c.222G>A (p.Pro74=) rs187950806
NM_000091.5(COL4A3):c.567T>A (p.Gly189=) rs2125924539
NM_000092.5(COL4A4):c.*4491_*4494dup rs151077907
NM_000092.5(COL4A4):c.2165-13del rs140965334
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.5(COL4A4):c.2922T>C (p.Pro974=) rs762735176
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser) rs531161419
NM_000092.5(COL4A4):c.3974-12dup rs200823182
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.5(COL4A4):c.4809+7dup rs759784585
NM_000092.5(COL4A4):c.736-4del rs750699545

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