ClinVar Miner

List of variants in gene COL5A2 reported by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala) rs141210030 0.00039
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736 0.00011
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp) rs374549843 0.00010
NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser) rs149737825 0.00006
NM_000393.5(COL5A2):c.3308C>T (p.Pro1103Leu) rs150401168 0.00006
NM_000393.5(COL5A2):c.376G>A (p.Gly126Ser) rs779153546 0.00006
NM_000393.5(COL5A2):c.3038C>T (p.Ala1013Val) rs372220538 0.00005
NM_000393.5(COL5A2):c.1005+3A>G rs375809563 0.00003
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val) rs886039197 0.00003
NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser) rs267599127 0.00003
NM_000393.5(COL5A2):c.323G>A (p.Gly108Asp) rs954753747 0.00002
NM_000393.5(COL5A2):c.3343G>C (p.Ala1115Pro) rs748601646 0.00002
NM_000393.5(COL5A2):c.158T>A (p.Ile53Asn) rs1443765130 0.00001
NM_000393.5(COL5A2):c.1681G>A (p.Gly561Arg) rs1184276149 0.00001
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys) rs730880066 0.00001
NM_000393.5(COL5A2):c.1715G>A (p.Arg572Gln) rs760408439 0.00001
NM_000393.5(COL5A2):c.2228A>C (p.Lys743Thr) rs372812220 0.00001
NM_000393.5(COL5A2):c.2553+30A>G rs1350030532 0.00001
NM_000393.5(COL5A2):c.2742G>A (p.Ala914=) rs773825862 0.00001
NM_000393.5(COL5A2):c.2839C>A (p.Pro947Thr) rs1027615025 0.00001
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr) rs762874073 0.00001
NM_000393.5(COL5A2):c.1167_1181del (p.Gly390_Ala394del)
NM_000393.5(COL5A2):c.1307C>T (p.Ser436Phe)
NM_000393.5(COL5A2):c.1634G>A (p.Arg545Gln)
NM_000393.5(COL5A2):c.1651T>C (p.Ser551Pro) rs2105594391
NM_000393.5(COL5A2):c.2131-10T>G
NM_000393.5(COL5A2):c.2386G>A (p.Ala796Thr)
NM_000393.5(COL5A2):c.2489G>A (p.Arg830Gln)
NM_000393.5(COL5A2):c.2570C>T (p.Pro857Leu) rs938162476
NM_000393.5(COL5A2):c.2597C>T (p.Pro866Leu) rs143261719
NM_000393.5(COL5A2):c.2891G>C (p.Gly964Ala)
NM_000393.5(COL5A2):c.2950G>C (p.Gly984Arg) rs1576493931
NM_000393.5(COL5A2):c.319T>G (p.Phe107Val) rs778501601
NM_000393.5(COL5A2):c.3341G>T (p.Arg1114Leu)
NM_000393.5(COL5A2):c.3659C>T (p.Pro1220Leu)
NM_000393.5(COL5A2):c.3709A>G (p.Met1237Val) rs1685513453
NM_000393.5(COL5A2):c.4133A>G (p.Gln1378Arg) rs863223498
NM_000393.5(COL5A2):c.4332C>G (p.Ile1444Met) rs138837670
NM_000393.5(COL5A2):c.434A>C (p.Glu145Ala)

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