ClinVar Miner

List of variants in gene COL4A4 reported as likely pathogenic by Myriad Genetics, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
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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