ClinVar Miner

List of variants in gene COL4A5 studied for Inborn genetic diseases

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_033380.3(COL4A5):c.4117C>A (p.Gln1373Lys) rs147447379 0.00014
NM_033380.3(COL4A5):c.3251A>C (p.Glu1084Ala) rs146873772 0.00013
NM_033380.3(COL4A5):c.1975A>G (p.Ile659Val) rs201414732 0.00005
NM_033380.3(COL4A5):c.433C>T (p.Pro145Ser) rs750582198 0.00005
NM_033380.3(COL4A5):c.3232C>T (p.Leu1078Phe) rs763614519 0.00004
NM_033380.3(COL4A5):c.1909C>A (p.Gln637Lys) rs368347660 0.00003
NM_033380.3(COL4A5):c.2371T>G (p.Leu791Val) rs973951246 0.00003
NM_033380.3(COL4A5):c.3095T>C (p.Met1032Thr) rs754487739 0.00001
NM_033380.3(COL4A5):c.4937A>G (p.Tyr1646Cys) rs937985430 0.00001
NM_033380.3(COL4A5):c.1032+3_1032+6del rs104886314
NM_033380.3(COL4A5):c.1032+4A>G
NM_033380.3(COL4A5):c.1081A>G (p.Ile361Val)
NM_033380.3(COL4A5):c.1972A>C (p.Thr658Pro) rs747768366
NM_033380.3(COL4A5):c.2116A>G (p.Ile706Val) rs1369565068
NM_033380.3(COL4A5):c.2233C>G (p.Pro745Ala)
NM_033380.3(COL4A5):c.2260G>T (p.Ala754Ser)
NM_033380.3(COL4A5):c.2317C>T (p.Pro773Ser)
NM_033380.3(COL4A5):c.2958_2975del (p.Asp989_Gly994del) rs1556421106
NM_033380.3(COL4A5):c.2959C>A (p.Pro987Thr)
NM_033380.3(COL4A5):c.3041C>G (p.Pro1014Arg)
NM_033380.3(COL4A5):c.3085A>G (p.Ile1029Val)
NM_033380.3(COL4A5):c.32G>T (p.Gly11Val)
NM_033380.3(COL4A5):c.3334C>A (p.Pro1112Thr)
NM_033380.3(COL4A5):c.3457G>C (p.Gly1153Arg)
NM_033380.3(COL4A5):c.3829C>T (p.Pro1277Ser) rs761470284
NM_033380.3(COL4A5):c.3959C>T (p.Pro1320Leu)
NM_033380.3(COL4A5):c.404G>T (p.Gly135Val)
NM_033380.3(COL4A5):c.4220del (p.Pro1407fs)
NM_033380.3(COL4A5):c.4459C>T (p.Leu1487Phe)
NM_033380.3(COL4A5):c.4652T>C (p.Met1551Thr) rs1057518146
NM_033380.3(COL4A5):c.46G>C (p.Ala16Pro)
NM_033380.3(COL4A5):c.599C>T (p.Pro200Leu)
NM_033380.3(COL4A5):c.851A>T (p.Glu284Val)
NM_033380.3(COL4A5):c.908A>T (p.Asp303Val)
NM_033380.3(COL4A5):c.953C>G (p.Pro318Arg)

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