ClinVar Miner

List of variants in gene COL4A5 reported as uncertain significance for not specified

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.3374-11C>A rs104886387 0.00018
NM_033380.3(COL4A5):c.3958C>T (p.Pro1320Ser) rs754836509 0.00013
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) rs104886270 0.00008
NM_033380.3(COL4A5):c.4550G>A (p.Arg1517His) rs104886285 0.00005
NM_033380.3(COL4A5):c.4003C>T (p.Pro1335Ser) rs757653472 0.00004
NM_033380.3(COL4A5):c.3899G>C (p.Gly1300Ala) rs1252928330 0.00001
NM_033380.3(COL4A5):c.-16C>T
NM_033380.3(COL4A5):c.-25_-8dup rs752443408
NM_033380.3(COL4A5):c.1032+5G>A rs104886315
NM_033380.3(COL4A5):c.1340-8T>G
NM_033380.3(COL4A5):c.1559C>T (p.Ala520Val) rs2066528784
NM_033380.3(COL4A5):c.1948+8T>C
NM_033380.3(COL4A5):c.2180C>G (p.Pro727Arg) rs753005152
NM_033380.3(COL4A5):c.2509+6A>G
NM_033380.3(COL4A5):c.3454+5G>T
NM_033380.3(COL4A5):c.3787C>T (p.Pro1263Ser) rs1012489715
NM_033380.3(COL4A5):c.379A>G (p.Thr127Ala) rs2147746841
NM_033380.3(COL4A5):c.40T>G (p.Leu14Val) rs760570519
NM_033380.3(COL4A5):c.4207G>A (p.Gly1403Ser) rs2147982351
NM_033380.3(COL4A5):c.4652T>C (p.Met1551Thr) rs1057518146
NM_033380.3(COL4A5):c.4892G>A (p.Arg1631His)
NM_033380.3(COL4A5):c.830C>T (p.Pro277Leu) rs754849522

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