ClinVar Miner

List of variants studied for autosomal recessive Alport syndrome by Myriad Genetics, Inc.

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 156
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549 0.00003
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460 0.00002
NM_000091.5(COL4A3):c.2197G>T (p.Gly733Ter) rs2071839316 0.00001
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181 0.00001
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter) rs121912861 0.00001
NM_000091.5(COL4A3):c.1015_1016insTGAAA (p.Gly339fs)
NM_000091.5(COL4A3):c.1042_1043delinsT (p.Asp348fs)
NM_000091.5(COL4A3):c.1066G>T (p.Glu356Ter)
NM_000091.5(COL4A3):c.1188G>A (p.Trp396Ter) rs1348174898
NM_000091.5(COL4A3):c.1213G>T (p.Glu405Ter) rs2070736908
NM_000091.5(COL4A3):c.1361del (p.Pro454fs)
NM_000091.5(COL4A3):c.1408G>T (p.Gly470Ter) rs2070901479
NM_000091.5(COL4A3):c.1507A>T (p.Arg503Ter)
NM_000091.5(COL4A3):c.151A>T (p.Lys51Ter) rs2068937789
NM_000091.5(COL4A3):c.1531G>T (p.Gly511Ter) rs921768118
NM_000091.5(COL4A3):c.1572dup (p.Pro525fs)
NM_000091.5(COL4A3):c.1615G>T (p.Glu539Ter) rs2071189852
NM_000091.5(COL4A3):c.1645C>T (p.Gln549Ter)
NM_000091.5(COL4A3):c.1662_1663del (p.Asp555fs)
NM_000091.5(COL4A3):c.1682_1685del (p.Gln561fs)
NM_000091.5(COL4A3):c.1729A>T (p.Lys577Ter)
NM_000091.5(COL4A3):c.1747A>T (p.Lys583Ter) rs920504687
NM_000091.5(COL4A3):c.1767_1773del (p.Ser589fs)
NM_000091.5(COL4A3):c.1855G>T (p.Gly619Ter) rs773515249
NM_000091.5(COL4A3):c.1879del (p.Gln627fs)
NM_000091.5(COL4A3):c.2076_2077del (p.Glu693fs)
NM_000091.5(COL4A3):c.2170G>T (p.Gly724Ter)
NM_000091.5(COL4A3):c.2192T>A (p.Leu731Ter)
NM_000091.5(COL4A3):c.2444dup (p.Ala816fs)
NM_000091.5(COL4A3):c.2456_2457insACTGTCTCTTA (p.Pro820fs)
NM_000091.5(COL4A3):c.2590C>T (p.Gln864Ter) rs2072046147
NM_000091.5(COL4A3):c.2591_2592insT (p.Gln864fs)
NM_000091.5(COL4A3):c.2602G>T (p.Gly868Ter)
NM_000091.5(COL4A3):c.2617A>T (p.Arg873Ter) rs2072047738
NM_000091.5(COL4A3):c.2673_2676delinsATTTTCGA (p.Gly892fs)
NM_000091.5(COL4A3):c.280G>T (p.Gly94Ter) rs2069240492
NM_000091.5(COL4A3):c.2830_2831delinsG (p.Pro944fs)
NM_000091.5(COL4A3):c.2834C>A (p.Ser945Ter) rs2072184526
NM_000091.5(COL4A3):c.2870del (p.Pro957fs)
NM_000091.5(COL4A3):c.2950A>T (p.Lys984Ter)
NM_000091.5(COL4A3):c.2953G>T (p.Gly985Ter) rs2072530756
NM_000091.5(COL4A3):c.304dup (p.Ser102fs)
NM_000091.5(COL4A3):c.3176C>A (p.Ser1059Ter) rs2072651666
NM_000091.5(COL4A3):c.3206del (p.Pro1069fs)
NM_000091.5(COL4A3):c.3292G>T (p.Gly1098Ter)
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3327_3330del (p.Gly1110fs)
NM_000091.5(COL4A3):c.3362T>A (p.Leu1121Ter) rs2072936269
NM_000091.5(COL4A3):c.3370A>T (p.Lys1124Ter) rs2072936529
NM_000091.5(COL4A3):c.3373G>T (p.Gly1125Ter) rs2072936636
NM_000091.5(COL4A3):c.3561_3562del (p.Gln1188fs)
NM_000091.5(COL4A3):c.3565G>T (p.Gly1189Ter) rs2072983130
NM_000091.5(COL4A3):c.3647del (p.Gly1216fs)
NM_000091.5(COL4A3):c.3749del (p.Pro1250fs)
NM_000091.5(COL4A3):c.3915del (p.Arg1306fs)
NM_000091.5(COL4A3):c.3952A>T (p.Lys1318Ter) rs2073363435
NM_000091.5(COL4A3):c.3968_3970delinsTT (p.Asn1323fs)
NM_000091.5(COL4A3):c.4004del (p.Pro1335fs)
NM_000091.5(COL4A3):c.4036G>T (p.Gly1346Ter) rs2073400756
NM_000091.5(COL4A3):c.4054A>T (p.Lys1352Ter) rs2073401408
NM_000091.5(COL4A3):c.4100del (p.Gly1367fs)
NM_000091.5(COL4A3):c.4207G>T (p.Gly1403Ter)
NM_000091.5(COL4A3):c.4240A>T (p.Lys1414Ter)
NM_000091.5(COL4A3):c.4270G>T (p.Gly1424Ter) rs2073567181
NM_000091.5(COL4A3):c.4298del (p.Gly1433fs)
NM_000091.5(COL4A3):c.4307del (p.Gly1436fs)
NM_000091.5(COL4A3):c.4429C>T (p.Gln1477Ter)
NM_000091.5(COL4A3):c.4515C>A (p.Cys1505Ter) rs2073628823
NM_000091.5(COL4A3):c.4559C>A (p.Ser1520Ter)
NM_000091.5(COL4A3):c.4566G>A (p.Trp1522Ter) rs2073630720
NM_000091.5(COL4A3):c.4615A>T (p.Arg1539Ter)
NM_000091.5(COL4A3):c.4625_4626del (p.Glu1542fs)
NM_000091.5(COL4A3):c.4634_4635del (p.Ile1545fs)
NM_000091.5(COL4A3):c.4710T>A (p.Cys1570Ter)
NM_000091.5(COL4A3):c.570del (p.Pro191fs)
NM_000091.5(COL4A3):c.615del (p.Pro206fs)
NM_000091.5(COL4A3):c.643A>T (p.Lys215Ter)
NM_000091.5(COL4A3):c.700_701del (p.Leu234fs)
NM_000091.5(COL4A3):c.737_738insATGTGTATAAGAGACA (p.Val246_Thr247insCysValTer)
NM_000091.5(COL4A3):c.803dup (p.Glu269fs)
NM_000091.5(COL4A3):c.894del (p.Lys298fs) rs2070145822
NM_000091.5(COL4A3):c.94_95del (p.Val32fs)
NM_000091.5(COL4A3):c.991C>T (p.Gln331Ter) rs768527987
NM_000092.5(COL4A4):c.1027A>T (p.Lys343Ter) rs2060519888
NM_000092.5(COL4A4):c.1073T>A (p.Leu358Ter)
NM_000092.5(COL4A4):c.1153G>T (p.Gly385Ter)
NM_000092.5(COL4A4):c.1222_1235del (p.Gly408fs) rs2150687684
NM_000092.5(COL4A4):c.1268del (p.Gly423fs)
NM_000092.5(COL4A4):c.1400del (p.Pro467fs)
NM_000092.5(COL4A4):c.1402C>T (p.Gln468Ter) rs2059821994
NM_000092.5(COL4A4):c.1444_1446delinsTC (p.Pro482fs)
NM_000092.5(COL4A4):c.1543G>T (p.Gly515Ter)
NM_000092.5(COL4A4):c.1554del (p.Leu519fs)
NM_000092.5(COL4A4):c.1685C>A (p.Ser562Ter) rs2059358378
NM_000092.5(COL4A4):c.171T>A (p.Cys57Ter)
NM_000092.5(COL4A4):c.1748del (p.Pro583fs)
NM_000092.5(COL4A4):c.1785dup (p.Gly596fs) rs2150505385
NM_000092.5(COL4A4):c.1809_1813del (p.Asp603fs)
NM_000092.5(COL4A4):c.1850dup (p.Leu618fs)
NM_000092.5(COL4A4):c.1865dup (p.Lys623fs)
NM_000092.5(COL4A4):c.186dup (p.Ser63fs)
NM_000092.5(COL4A4):c.1973T>A (p.Leu658Ter) rs2059119564
NM_000092.5(COL4A4):c.2137G>T (p.Gly713Ter) rs1976602205
NM_000092.5(COL4A4):c.2197G>T (p.Gly733Ter)
NM_000092.5(COL4A4):c.2207del (p.Lys736fs)
NM_000092.5(COL4A4):c.2211delinsTGCTAATTC (p.Ser738fs)
NM_000092.5(COL4A4):c.2241del (p.Gly748fs)
NM_000092.5(COL4A4):c.2297_2298del (p.His766fs)
NM_000092.5(COL4A4):c.2346del (p.Gly783fs)
NM_000092.5(COL4A4):c.2532T>A (p.Tyr844Ter)
NM_000092.5(COL4A4):c.2599G>T (p.Gly867Ter) rs768902127
NM_000092.5(COL4A4):c.2672_2673insCATCATC (p.Pro892fs)
NM_000092.5(COL4A4):c.2672_2680delinsT (p.Gly891fs)
NM_000092.5(COL4A4):c.274G>T (p.Gly92Ter) rs2061755379
NM_000092.5(COL4A4):c.2817_2819delinsTATAAGAGACA (p.Met940fs)
NM_000092.5(COL4A4):c.2894dup (p.Met965fs)
NM_000092.5(COL4A4):c.2992C>T (p.Gln998Ter) rs1974009894
NM_000092.5(COL4A4):c.3000_3004del (p.Gly1002fs)
NM_000092.5(COL4A4):c.3005dup (p.Glu1003fs)
NM_000092.5(COL4A4):c.3021C>G (p.Tyr1007Ter) rs746105339
NM_000092.5(COL4A4):c.3031G>T (p.Gly1011Ter)
NM_000092.5(COL4A4):c.3039_3040del (p.His1013fs)
NM_000092.5(COL4A4):c.3058A>T (p.Lys1020Ter)
NM_000092.5(COL4A4):c.3064C>T (p.Gln1022Ter) rs1973992894
NM_000092.5(COL4A4):c.3130_3132delinsT (p.Pro1044fs)
NM_000092.5(COL4A4):c.3177del (p.Gly1060fs)
NM_000092.5(COL4A4):c.3185C>A (p.Ser1062Ter)
NM_000092.5(COL4A4):c.3194_3195del (p.Asp1065fs)
NM_000092.5(COL4A4):c.3220A>T (p.Lys1074Ter) rs1973140216
NM_000092.5(COL4A4):c.3244_3245delinsT (p.Gly1082fs)
NM_000092.5(COL4A4):c.3259A>T (p.Lys1087Ter) rs1973132502
NM_000092.5(COL4A4):c.3281del (p.Gly1094fs)
NM_000092.5(COL4A4):c.3297del (p.Phe1099fs)
NM_000092.5(COL4A4):c.3347C>G (p.Ser1116Ter) rs1971792460
NM_000092.5(COL4A4):c.3424G>T (p.Gly1142Ter)
NM_000092.5(COL4A4):c.3457A>T (p.Arg1153Ter) rs1971610561
NM_000092.5(COL4A4):c.3466dup (p.Gln1156fs)
NM_000092.5(COL4A4):c.3565A>T (p.Lys1189Ter) rs1968848668
NM_000092.5(COL4A4):c.3594del (p.Pro1199fs)
NM_000092.5(COL4A4):c.3626_3627del (p.Lys1209fs)
NM_000092.5(COL4A4):c.3719del (p.Pro1240fs)
NM_000092.5(COL4A4):c.3755del (p.Lys1252fs)
NM_000092.5(COL4A4):c.3933C>A (p.Tyr1311Ter) rs1433065763
NM_000092.5(COL4A4):c.4125T>A (p.Cys1375Ter)
NM_000092.5(COL4A4):c.4208C>G (p.Ser1403Ter)
NM_000092.5(COL4A4):c.4271_4272del (p.Gly1424fs)
NM_000092.5(COL4A4):c.4324G>T (p.Gly1442Ter) rs1963884904
NM_000092.5(COL4A4):c.487dup (p.Leu163fs)
NM_000092.5(COL4A4):c.556C>T (p.Gln186Ter)
NM_000092.5(COL4A4):c.640G>T (p.Gly214Ter)
NM_000092.5(COL4A4):c.727G>T (p.Gly243Ter)
NM_000092.5(COL4A4):c.75_76del (p.Leu26fs)
NM_000092.5(COL4A4):c.913G>T (p.Gly305Ter)
NM_000092.5(COL4A4):c.948T>A (p.Tyr316Ter) rs34509421
NM_000092.5(COL4A4):c.994G>T (p.Gly332Ter) rs2060521689

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