ClinVar Miner

List of variants in gene COL5A1 reported as pathogenic by GeneDx

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.1183G>T (p.Glu395Ter) rs1554788339
NM_000093.5(COL5A1):c.1332+1G>T rs1064796684
NM_000093.5(COL5A1):c.1502del (p.Pro501fs) rs1085307855
NM_000093.5(COL5A1):c.1503del (p.Gly502fs) rs1554792011
NM_000093.5(COL5A1):c.1780C>T (p.Arg594Ter) rs1554792869
NM_000093.5(COL5A1):c.2034+1G>A rs886042173
NM_000093.5(COL5A1):c.2159dup (p.Gly721fs) rs863223469
NM_000093.5(COL5A1):c.2162dup (p.Gln722fs) rs863223470
NM_000093.5(COL5A1):c.2347_2348insT (p.Gln783fs) rs863223471
NM_000093.5(COL5A1):c.2734C>T (p.Arg912Ter) rs863223478
NM_000093.5(COL5A1):c.2784del (p.Lys929fs) rs863223472
NM_000093.5(COL5A1):c.2897del (p.Pro966fs) rs1179967153
NM_000093.5(COL5A1):c.292G>T (p.Glu98Ter) rs369126350
NM_000093.5(COL5A1):c.2988dup (p.Gly997fs) rs764693725
NM_000093.5(COL5A1):c.3184C>T (p.Arg1062Ter) rs387906606
NM_000093.5(COL5A1):c.3397C>T (p.Arg1133Ter) rs886042045
NM_000093.5(COL5A1):c.3726_3732del (p.Gly1243fs) rs1554805076
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_000093.5(COL5A1):c.3804dup (p.Gln1269fs) rs1588578971
NM_000093.5(COL5A1):c.3805C>T (p.Gln1269Ter) rs1554805142
NM_000093.5(COL5A1):c.3905del (p.Pro1302fs) rs1564477140
NM_000093.5(COL5A1):c.3906+3G>T rs786200922
NM_000093.5(COL5A1):c.4126dup (p.Ser1376fs) rs1131691820
NM_000093.5(COL5A1):c.4282C>T (p.Gln1428Ter) rs863223454
NM_000093.5(COL5A1):c.4283del (p.Gln1428fs) rs863223474
NM_000093.5(COL5A1):c.732_733del (p.Cys244_Asp245delinsTer) rs1554787557
NM_000093.5(COL5A1):c.904G>T (p.Glu302Ter) rs1554787811

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