ClinVar Miner

List of variants in gene COL5A1 reported as likely benign by PreventionGenetics

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Gene type:
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Total variants: 37
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HGVS dbSNP
NM_000093.4(COL5A1):c.1053G>A (p.Pro351=) rs370018361
NM_000093.4(COL5A1):c.110-19T>C rs148294644
NM_000093.4(COL5A1):c.1440C>T (p.Pro480=) rs150940930
NM_000093.4(COL5A1):c.1569+3G>A rs886038232
NM_000093.4(COL5A1):c.1674G>A (p.Arg558=) rs746502968
NM_000093.4(COL5A1):c.2134-11G>C rs369317619
NM_000093.4(COL5A1):c.2310T>A (p.Pro770=) rs377123592
NM_000093.4(COL5A1):c.2386-6G>A rs373383768
NM_000093.4(COL5A1):c.2493C>T (p.Ile831=) rs199630108
NM_000093.4(COL5A1):c.2592+16C>T rs145429817
NM_000093.4(COL5A1):c.2844+20G>A rs200916696
NM_000093.4(COL5A1):c.2845-15T>C rs886038233
NM_000093.4(COL5A1):c.2845-17C>A rs368737278
NM_000093.4(COL5A1):c.2997C>T (p.Val999=) rs201897490
NM_000093.4(COL5A1):c.3006+17C>T rs140528268
NM_000093.4(COL5A1):c.3007-19A>G rs370503113
NM_000093.4(COL5A1):c.3114+12G>C rs528913410
NM_000093.4(COL5A1):c.3203T>G (p.Val1068Gly) rs372109796
NM_000093.4(COL5A1):c.3205-18C>G rs199557977
NM_000093.4(COL5A1):c.3495G>A (p.Gly1165=) rs886038234
NM_000093.4(COL5A1):c.3591C>T (p.Asp1197=) rs370349155
NM_000093.4(COL5A1):c.3691-9T>C rs187584029
NM_000093.4(COL5A1):c.3906+19C>T rs571788196
NM_000093.4(COL5A1):c.3906+20G>A rs148053413
NM_000093.4(COL5A1):c.4176+19A>C rs746397034
NM_000093.4(COL5A1):c.4290C>T (p.Ala1430=) rs368011067
NM_000093.4(COL5A1):c.4383C>T (p.Pro1461=) rs368551709
NM_000093.4(COL5A1):c.4410C>T (p.Pro1470=) rs41310953
NM_000093.4(COL5A1):c.598G>A (p.Asp200Asn) rs142890619
NM_000093.4(COL5A1):c.766G>A (p.Asp256Asn) rs886038237
NM_000093.4(COL5A1):c.924+14G>A rs200595318
NM_001278074.1(COL5A1):c.1390-18CT[3] rs863223441
NM_001278074.1(COL5A1):c.1476C>T (p.Val492=) rs141093527
NM_001278074.1(COL5A1):c.278C>T (p.Ala93Val) rs41306397
NM_001278074.1(COL5A1):c.3855C>T (p.Gly1285=) rs139544503
NM_001278074.1(COL5A1):c.4230+5C>T rs142248898
NM_001278074.1(COL5A1):c.61C>T (p.Pro21Ser) rs548525119

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