ClinVar Miner

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

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Total variants: 26
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HGVS dbSNP
NM_000495.5(COL4A5):c.-25_-8dup rs752443408
NM_000495.5(COL4A5):c.1032+5G>T rs104886315
NM_000495.5(COL4A5):c.1043G>A (p.Arg348Lys) rs377663039
NM_000495.5(COL4A5):c.146A>G (p.Glu49Gly) rs1569486475
NM_000495.5(COL4A5):c.2019A>T (p.Arg673Ser) rs1569494902
NM_000495.5(COL4A5):c.2206G>C (p.Glu736Gln)
NM_000495.5(COL4A5):c.2295A>G (p.Pro765=) rs141247183
NM_000495.5(COL4A5):c.3023A>G (p.Lys1008Arg) rs142929745
NM_000495.5(COL4A5):c.3116G>A (p.Gly1039Asp) rs1556421658
NM_000495.5(COL4A5):c.3296C>T (p.Ser1099Phe) rs767087695
NM_000495.5(COL4A5):c.3496A>G (p.Lys1166Glu) rs1064794446
NM_000495.5(COL4A5):c.3527G>A (p.Gly1176Glu) rs886042570
NM_000495.5(COL4A5):c.3787C>T (p.Pro1263Ser) rs1012489715
NM_000495.5(COL4A5):c.4137_4139del (p.Ile1380del) rs1569507545
NM_000495.5(COL4A5):c.4228C>T (p.Arg1410Cys) rs104886270
NM_000495.5(COL4A5):c.4264C>T (p.Arg1422Cys) rs144282156
NM_000495.5(COL4A5):c.4549C>A (p.Pro1517Thr) rs201220208
NM_000495.5(COL4A5):c.465+2_465+3dup rs1569488954
NM_000495.5(COL4A5):c.466-13T>A rs1569489302
NM_000495.5(COL4A5):c.4708C>G (p.Pro1570Ala)
NM_000495.5(COL4A5):c.4880C>T (p.Ala1627Val)
NM_000495.5(COL4A5):c.4942T>C (p.Trp1648Arg) rs1569509354
NM_000495.5(COL4A5):c.572_583del (p.Pro191_Gly195delinsArg) rs1569489843
NM_000495.5(COL4A5):c.81G>A (p.Ala27=) rs1569469478
NM_000495.5(COL4A5):c.858T>C (p.Gly286=) rs183837448
NM_000495.5(COL4A5):c.89A>G (p.Tyr30Cys) rs150305490

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