ClinVar Miner

List of variants in gene COL4A5 reported by Gharavi Laboratory,Columbia University

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Total variants: 41
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HGVS dbSNP
NM_000495.5(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111
NM_000495.5(COL4A5):c.146A>G (p.Glu49Gly) rs1569486475
NM_000495.5(COL4A5):c.1508G>T (p.Gly503Val) rs1569493679
NM_000495.5(COL4A5):c.1607G>A (p.Gly536Asp) rs104886125
NM_000495.5(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_000495.5(COL4A5):c.2332G>A (p.Gly778Ser) rs104886174
NM_000495.5(COL4A5):c.2395+1G>C
NM_000495.5(COL4A5):c.2510-2A>G
NM_000495.5(COL4A5):c.2804G>A (p.Gly935Asp) rs104886195
NM_000495.5(COL4A5):c.2821G>T (p.Gly941Cys) rs104886196
NM_000495.5(COL4A5):c.2917+1G>C rs104886371
NM_000495.5(COL4A5):c.2965_2982del (p.Asp989_Gly994del) rs104886374
NM_000495.5(COL4A5):c.3017G>A (p.Gly1006Asp)
NM_000495.5(COL4A5):c.3170G>T (p.Gly1057Val) rs1569499010
NM_000495.5(COL4A5):c.3310G>T (p.Gly1104Cys) rs1569504072
NM_000495.5(COL4A5):c.3409G>T (p.Gly1137Cys) rs1569505374
NM_000495.5(COL4A5):c.3427G>A (p.Gly1143Ser) rs104886228
NM_000495.5(COL4A5):c.3685G>A (p.Gly1229Ser) rs1569505771
NM_000495.5(COL4A5):c.395G>A (p.Gly132Glu) rs1569488841
NM_000495.5(COL4A5):c.4137_4139del (p.Ile1380del) rs1569507545
NM_000495.5(COL4A5):c.4141_4152del (p.Pro1381_Pro1384del) rs1569507550
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.4297+1G>C
NM_000495.5(COL4A5):c.4297G>C (p.Gly1433Arg) rs1569508169
NM_000495.5(COL4A5):c.4510+1G>A
NM_000495.5(COL4A5):c.4549C>A (p.Pro1517Thr) rs201220208
NM_000495.5(COL4A5):c.4880C>T (p.Ala1627Val)
NM_000495.5(COL4A5):c.4942T>C (p.Trp1648Arg) rs1569509354
NM_000495.5(COL4A5):c.49_50del (p.Leu17fs) rs104886427
NM_000495.5(COL4A5):c.5020C>T (p.Arg1674Ter) rs281874753
NM_000495.5(COL4A5):c.5030G>A (p.Arg1677Gln) rs104886308
NM_000495.5(COL4A5):c.530G>A (p.Gly177Asp) rs1569489328
NM_000495.5(COL4A5):c.546+2dup rs1569489353
NM_000495.5(COL4A5):c.546+4_546+7del rs1569489348
NM_000495.5(COL4A5):c.572_583del (p.Pro191_Gly195delinsArg) rs1569489843
NM_000495.5(COL4A5):c.594dup (p.Pro199fs) rs1569489863
NM_000495.5(COL4A5):c.635del (p.Pro212fs) rs104886065
NM_000495.5(COL4A5):c.646G>A (p.Gly216Arg) rs104886067
NM_000495.5(COL4A5):c.647G>A (p.Gly216Glu)
NM_000495.5(COL4A5):c.698G>C (p.Gly233Ala) rs1569490592

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