ClinVar Miner

List of variants in gene COL5A1 reported by Center for Human Genetics, Inc,Center for Human Genetics, Inc

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Total variants: 39
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HGVS dbSNP
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_001278074.1(COL5A1):c.1283C>T (p.Ser428Leu) rs770793962
NM_001278074.1(COL5A1):c.1350C>T (p.Gly450=) rs576332528
NM_001278074.1(COL5A1):c.1719+10T>C rs202231659
NM_001278074.1(COL5A1):c.1881+13C>T rs753635328
NM_001278074.1(COL5A1):c.193C>T (p.Arg65Trp) rs139468527
NM_001278074.1(COL5A1):c.2034+18G>C rs200055343
NM_001278074.1(COL5A1):c.2331+16G>A rs199654385
NM_001278074.1(COL5A1):c.233C>T (p.Thr78Ile) rs555131723
NM_001278074.1(COL5A1):c.2555A>T (p.Asn852Ile) rs148146480
NM_001278074.1(COL5A1):c.2802C>T (p.Gly934=) rs1554801686
NM_001278074.1(COL5A1):c.2883A>G (p.Gly961=) rs1244102860
NM_001278074.1(COL5A1):c.3258+7C>A rs750710374
NM_001278074.1(COL5A1):c.3259-8C>T rs146461106
NM_001278074.1(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985
NM_001278074.1(COL5A1):c.341C>A (p.Ala114Asp) rs147589613
NM_001278074.1(COL5A1):c.3592G>A (p.Gly1198Ser) rs372499629
NM_001278074.1(COL5A1):c.3595G>A (p.Glu1199Lys) rs867211079
NM_001278074.1(COL5A1):c.3691-9T>C rs187584029
NM_001278074.1(COL5A1):c.3744+19C>T rs200498760
NM_001278074.1(COL5A1):c.3852+9C>T rs548696863
NM_001278074.1(COL5A1):c.3906+20G>A rs148053413
NM_001278074.1(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_001278074.1(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022
NM_001278074.1(COL5A1):c.401G>A (p.Arg134His) rs1442400098
NM_001278074.1(COL5A1):c.4065C>T (p.Pro1355=) rs61737906
NM_001278074.1(COL5A1):c.4230+5C>T rs142248898
NM_001278074.1(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663
NM_001278074.1(COL5A1):c.4307C>T (p.Pro1436Leu) rs752334702
NM_001278074.1(COL5A1):c.4410C>T (p.Pro1470=) rs41310953
NM_001278074.1(COL5A1):c.4446+14C>T rs1564481400
NM_001278074.1(COL5A1):c.492-3C>T rs1027866868
NM_001278074.1(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_001278074.1(COL5A1):c.574G>A (p.Asp192Asn) rs138579182
NM_001278074.1(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_001278074.1(COL5A1):c.787-15G>A rs150200872
NM_001278074.1(COL5A1):c.841del (p.Glu281fs) rs1554787779
NM_001278074.1(COL5A1):c.924+13C>T rs199836060
NM_001278074.1(COL5A1):c.996C>T (p.Asp332=) rs144763302

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