ClinVar Miner

List of variants in gene COL4A5 reported as likely pathogenic for Alport syndrome

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.1295G>A (p.Gly432Glu) rs2066428351
NM_033380.3(COL4A5):c.1498G>C (p.Gly500Arg) rs281874670
NM_033380.3(COL4A5):c.1525G>C (p.Gly509Arg) rs754223700
NM_033380.3(COL4A5):c.1532del (p.Pro511fs) rs2066528020
NM_033380.3(COL4A5):c.1584_1587+6del
NM_033380.3(COL4A5):c.1922G>A (p.Gly641Glu) rs1569494378
NM_033380.3(COL4A5):c.2042-2A>C rs2066636714
NM_033380.3(COL4A5):c.2129G>A (p.Gly710Glu) rs2066640120
NM_033380.3(COL4A5):c.2464G>A (p.Gly822Arg) rs104886184
NM_033380.3(COL4A5):c.2633G>A (p.Gly878Glu) rs104886199
NM_033380.3(COL4A5):c.276+2dup rs2065934135
NM_033380.3(COL4A5):c.3088G>A (p.Gly1030Ser) rs104886210
NM_033380.3(COL4A5):c.3553G>C (p.Gly1185Arg) rs1353480777
NM_033380.3(COL4A5):c.3703G>T (p.Gly1235Cys) rs2147959392
NM_033380.3(COL4A5):c.3773G>T (p.Gly1258Val)
NM_033380.3(COL4A5):c.3898G>A (p.Gly1300Ser) rs2147975020
NM_033380.3(COL4A5):c.4291_4297delinsCT (p.Asp1431fs) rs2068539903
NM_033380.3(COL4A5):c.4352G>A (p.Gly1451Glu)
NM_033380.3(COL4A5):c.438+1_438+3dup rs2066064057
NM_033380.3(COL4A5):c.689G>T (p.Gly230Val) rs281874763
NM_033380.3(COL4A5):c.884G>A (p.Gly295Asp) rs104886079

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