ClinVar Miner

List of variants in gene COL5A1 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP
NM_000093.4(COL5A1):c.-139G>T rs886063672
NM_000093.4(COL5A1):c.-261_-259dupAGG rs886063671
NM_000093.4(COL5A1):c.-287G>C rs886063670
NM_000093.4(COL5A1):c.-357G>T rs886063669
NM_000093.4(COL5A1):c.-364G>C rs780212970
NM_000093.4(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.4(COL5A1):c.126C>T (p.Leu42=) rs149369116
NM_000093.4(COL5A1):c.1332+4dupA rs886063674
NM_000093.4(COL5A1):c.1350C>T (p.Gly450=) rs576332528
NM_000093.4(COL5A1):c.1383C>T (p.Ile461=) rs61736827
NM_000093.4(COL5A1):c.1637C>T (p.Ala546Val) rs557361751
NM_000093.4(COL5A1):c.1734C>T (p.Ser578=) rs148094039
NM_000093.4(COL5A1):c.1830T>C (p.Gly610=) rs886063675
NM_000093.4(COL5A1):c.1989G>C (p.Arg663Ser) rs774093862
NM_000093.4(COL5A1):c.2331+15C>T rs369093559
NM_000093.4(COL5A1):c.2493C>T (p.Ile831=) rs199630108
NM_000093.4(COL5A1):c.2555A>G (p.Asn852Ser) rs148146480
NM_000093.4(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010
NM_000093.4(COL5A1):c.3111G>A (p.Thr1037=) rs758336822
NM_000093.4(COL5A1):c.3231A>G (p.Glu1077=) rs376248130
NM_000093.4(COL5A1):c.3247C>T (p.Pro1083Ser) rs370321707
NM_000093.4(COL5A1):c.3345G>A (p.Pro1115=) rs764683617
NM_000093.4(COL5A1):c.3564C>T (p.Ile1188=) rs766961124
NM_000093.4(COL5A1):c.3573A>G (p.Pro1191=) rs564398230
NM_000093.4(COL5A1):c.3591C>T (p.Asp1197=) rs370349155
NM_000093.4(COL5A1):c.3627C>T (p.Phe1209=) rs748000980
NM_000093.4(COL5A1):c.365A>G (p.Glu122Gly) rs886063673
NM_000093.4(COL5A1):c.367C>G (p.Gln123Glu) rs142114921
NM_000093.4(COL5A1):c.37C>T (p.Leu13Phe) rs762625123
NM_000093.4(COL5A1):c.3897C>T (p.Gly1299=) rs745918663
NM_000093.4(COL5A1):c.3939G>T (p.Glu1313Asp) rs886063676
NM_000093.4(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_000093.4(COL5A1):c.4192G>A (p.Ala1398Thr) rs759464073
NM_000093.4(COL5A1):c.4275C>T (p.Ile1425=) rs767372665
NM_000093.4(COL5A1):c.431C>A (p.Thr144Lys) rs561761305
NM_000093.4(COL5A1):c.4370C>T (p.Pro1457Leu) rs201875250
NM_000093.4(COL5A1):c.4371G>A (p.Pro1457=) rs756096066
NM_000093.4(COL5A1):c.739G>A (p.Ala247Thr) rs769115550
NM_000093.4(COL5A1):c.787-9C>T rs751472921
NM_000093.4(COL5A1):c.804C>T (p.Gly268=) rs147729713
NM_000093.4(COL5A1):c.805G>A (p.Glu269Lys) rs761079177
NM_000093.4(COL5A1):c.850G>A (p.Glu284Lys) rs75648697
NM_000093.4(COL5A1):c.924+13C>T rs199836060
NM_000093.4(COL5A1):c.924+14G>A rs200595318

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.