ClinVar Miner

List of variants in gene COL4A5 reported by GeneDx

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Total variants: 35
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HGVS dbSNP
GRCh38/hg38 Xq22.3(chrX:108447982-108538433)x3
NM_000495.4(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111
NM_000495.4(COL4A5):c.1294G>A (p.Gly432Arg) rs281874664
NM_000495.4(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_000495.4(COL4A5):c.2605G>A (p.Gly869Arg) rs104886189
NM_000495.4(COL4A5):c.3410G>A (p.Gly1137Asp) rs1131691795
NM_000495.4(COL4A5):c.4687C>T (p.Arg1563Ter) rs104886286
NM_000495.4(COL4A5):c.488T>C (p.Met163Thr) rs142503631
NM_000495.4(COL4A5):c.4946T>G (p.Leu1649Arg) rs104886303
NM_000495.4(COL4A5):c.584G>T (p.Gly195Val) rs104886061
NM_000495.4(COL4A5):c.665T>G (p.Phe222Cys) rs281874761
NM_000495.4(COL4A5):c.679G>A (p.Gly227Ser) rs1556405916
NM_000495.4(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_033380.1(COL4A5):c.1869delT (p.Gly624Valfs) rs1085307808
NM_033380.1(COL4A5):c.2510-1_2523delGGTTTACATGGAATA rs1064794029
NM_033380.1(COL4A5):c.611_612delGC (p.Gly204Alafs) rs281874759
NM_033380.2(COL4A5):c.-25_-8dup rs752443408
NM_033380.2(COL4A5):c.1043G>A (p.Arg348Lys) rs377663039
NM_033380.2(COL4A5):c.1570G>T (p.Gly524Cys) rs1170254952
NM_033380.2(COL4A5):c.2057delC (p.Pro686Glnfs) rs104886167
NM_033380.2(COL4A5):c.2180C>G (p.Pro727Arg) rs753005152
NM_033380.2(COL4A5):c.2395+4T>C rs774352105
NM_033380.2(COL4A5):c.2396-1G>T rs886041509
NM_033380.2(COL4A5):c.2414G>A (p.Gly805Glu) rs1556418210
NM_033380.2(COL4A5):c.2604delC (p.Gly869Glufs) rs1556419850
NM_033380.2(COL4A5):c.2722G>T (p.Gly908Ter) rs281874703
NM_033380.2(COL4A5):c.3490G>T (p.Gly1164Cys) rs1057518125
NM_033380.2(COL4A5):c.3496A>G (p.Lys1166Glu) rs1064794446
NM_033380.2(COL4A5):c.3554-5G>C rs1057522041
NM_033380.2(COL4A5):c.3604G>T (p.Gly1202Cys) rs1057522042
NM_033380.2(COL4A5):c.3659G>T (p.Gly1220Val) rs104886251
NM_033380.2(COL4A5):c.4652T>C (p.Met1551Thr) rs1057518146
NM_033380.2(COL4A5):c.574G>T (p.Gly192Trp) rs104886060
NM_033380.2(COL4A5):c.687+5G>A rs1556405930
NM_033380.2(COL4A5):c.990+1G>T rs1556407701

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