ClinVar Miner

List of variants in gene COL5A1 reported as uncertain significance for not specified

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Total variants: 21
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HGVS dbSNP
NM_000093.5(COL5A1):c.2998G>A (p.Gly1000Ser)
NM_001278074.1(COL5A1):c.1089C>G (p.Asn363Lys) rs773870913
NM_001278074.1(COL5A1):c.1229G>A (p.Arg410Gln) rs769244075
NM_001278074.1(COL5A1):c.1307C>T (p.Ala436Val) rs144269434
NM_001278074.1(COL5A1):c.1388C>T (p.Pro463Leu) rs201375465
NM_001278074.1(COL5A1):c.1827+11C>T rs374795810
NM_001278074.1(COL5A1):c.1831C>T (p.Arg611Trp) rs147329970
NM_001278074.1(COL5A1):c.1970C>T (p.Pro657Leu) rs149912828
NM_001278074.1(COL5A1):c.2038C>T (p.Pro680Ser) rs376920171
NM_001278074.1(COL5A1):c.2503G>A (p.Gly835Ser) rs927467876
NM_001278074.1(COL5A1):c.2588A>T (p.Glu863Val) rs139788610
NM_001278074.1(COL5A1):c.2635C>A (p.Gln879Lys) rs758475317
NM_001278074.1(COL5A1):c.2722C>T (p.Pro908Ser) rs144985214
NM_001278074.1(COL5A1):c.2983C>G (p.Pro995Ala) rs187022757
NM_001278074.1(COL5A1):c.3203T>G (p.Val1068Gly) rs372109796
NM_001278074.1(COL5A1):c.3257C>T (p.Ala1086Val) rs774849517
NM_001278074.1(COL5A1):c.3418G>A (p.Val1140Met) rs149616140
NM_001278074.1(COL5A1):c.4048C>G (p.Pro1350Ala) rs762699995
NM_001278074.1(COL5A1):c.4066G>A (p.Ala1356Thr) rs147868179
NM_001278074.1(COL5A1):c.409G>A (p.Val137Ile) rs145757313
NM_001278074.1(COL5A1):c.598G>A (p.Asp200Asn) rs142890619

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