ClinVar Miner

List of variants in gene COL5A1 reported as benign by Ambry Genetics

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.1432-5T>C rs3128612 0.57159
NM_000093.5(COL5A1):c.738C>T (p.Thr246=) rs3124299 0.34823
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=) rs3827848 0.14130
NM_000093.5(COL5A1):c.1092C>T (p.Pro364=) rs41306391 0.08110
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=) rs61729545 0.06122
NM_000093.5(COL5A1):c.2892C>T (p.Gly964=) rs78511105 0.03168
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=) rs41310207 0.02534
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_000093.5(COL5A1):c.2799+4T>C rs75815945 0.01279
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00972
NM_000093.5(COL5A1):c.1566G>A (p.Leu522=) rs61737941 0.00682
NM_000093.5(COL5A1):c.1062C>T (p.Asp354=) rs61737708 0.00634
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195 0.00598
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=) rs148648778 0.00340
NM_000093.5(COL5A1):c.240C>T (p.Asp80=) rs79724538 0.00288
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=) rs143443499 0.00283
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=) rs61737906 0.00164
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln) rs116003670 0.00162
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=) rs139070070 0.00038
NM_000093.5(COL5A1):c.1149C>T (p.Thr383=) rs771885855 0.00007
NM_000093.5(COL5A1):c.761C>T (p.Ser254Leu) rs144844792 0.00006
NM_000093.5(COL5A1):c.12T>C (p.His4=) rs368818087 0.00004

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