ClinVar Miner

List of variants in gene combination COL18A1, SLC19A1 reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 51
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.3694-33A>C rs56335679 0.47305
NM_001379500.1(COL18A1):c.3694-32C>A rs55690336 0.45427
NM_001379500.1(COL18A1):c.3447G>A (p.Ala1149=) rs1050351 0.43308
NM_001379500.1(COL18A1):c.*16G>A rs7499 0.41352
NM_001379500.1(COL18A1):c.3495+38C>G rs78487064 0.17082
NM_001379500.1(COL18A1):c.3231A>G (p.Thr1077=) rs12483761 0.14219
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn) rs12483377 0.06693
NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=) rs11544970 0.02268
NM_001379500.1(COL18A1):c.2728-8G>A rs116618591 0.01979
NM_001379500.1(COL18A1):c.3528A>G (p.Ser1176=) rs9980939 0.01862
NM_001379500.1(COL18A1):c.3610G>A (p.Ala1204Thr) rs144147445 0.00980
NM_001379500.1(COL18A1):c.3810-20C>T rs117866003 0.00234
NM_001379500.1(COL18A1):c.3036G>A (p.Pro1012=) rs370656151 0.00231
NM_001379500.1(COL18A1):c.3250-15G>A rs377715562 0.00215
NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His) rs201006742 0.00202
NM_001379500.1(COL18A1):c.3763C>T (p.Arg1255Cys) rs199908300 0.00169
NM_001379500.1(COL18A1):c.3022G>A (p.Val1008Ile) rs201381498 0.00156
NM_001379500.1(COL18A1):c.3316C>T (p.Arg1106Trp) rs377620137 0.00154
NM_001379500.1(COL18A1):c.3539G>A (p.Arg1180Gln) rs200484625 0.00148
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His) rs202106628 0.00140
NM_001379500.1(COL18A1):c.2890C>T (p.Arg964Trp) rs371106773 0.00071
NM_001379500.1(COL18A1):c.3851G>A (p.Arg1284His) rs202049650 0.00061
NM_001379500.1(COL18A1):c.3656G>A (p.Arg1219His) rs200043539 0.00043
NM_001379500.1(COL18A1):c.3761C>T (p.Ala1254Val) rs763990411 0.00015
NM_001379500.1(COL18A1):c.2684-28C>T rs750753948 0.00008
NM_001379500.1(COL18A1):c.3479G>A (p.Arg1160His) rs565489112 0.00007
NM_001379500.1(COL18A1):c.3579G>A (p.Ala1193=) rs372559352 0.00007
NM_001379500.1(COL18A1):c.2684-9C>T rs1002126692 0.00003
NM_001379500.1(COL18A1):c.3405C>T (p.Pro1135=) rs1156468067 0.00002
NM_001379500.1(COL18A1):c.2785G>A (p.Gly929Ser) rs758663679 0.00001
NM_001379500.1(COL18A1):c.2886C>T (p.Ser962=) rs1035728200 0.00001
NM_001379500.1(COL18A1):c.2901C>G (p.Pro967=) rs555990845 0.00001
NM_001379500.1(COL18A1):c.3303C>T (p.Asn1101=) rs768986320 0.00001
NM_001379500.1(COL18A1):c.2772G>C (p.Arg924Ser) rs556346113
NM_001379500.1(COL18A1):c.2782G>C (p.Gly928Arg) rs187721798
NM_001379500.1(COL18A1):c.2824G>A (p.Gly942Ser) rs943491304
NM_001379500.1(COL18A1):c.2832A>C (p.Pro944=) rs751825604
NM_001379500.1(COL18A1):c.2832_2834del (p.Gly945del)
NM_001379500.1(COL18A1):c.2847_2855del (p.Arg950_Tyr952del)
NM_001379500.1(COL18A1):c.2928dup (p.Gly977fs)
NM_001379500.1(COL18A1):c.2958_2966del (p.985GPP[3])
NM_001379500.1(COL18A1):c.2982_2990dup (p.Ser997_Phe998insProProSer)
NM_001379500.1(COL18A1):c.2989_2997del (p.Ser997_Pro999del)
NM_001379500.1(COL18A1):c.3048GCCCCCTGG[3] (p.1011PPG[5]) rs571597296
NM_001379500.1(COL18A1):c.3066_3074del (p.Thr1023_Gly1025del)
NM_001379500.1(COL18A1):c.3087+9_3087+10del rs373823632
NM_001379500.1(COL18A1):c.3337G>A (p.Ala1113Thr) rs746120970
NM_001379500.1(COL18A1):c.3417C>T (p.His1139=)
NM_001379500.1(COL18A1):c.3694-20AC[4] rs58188320
NM_001379500.1(COL18A1):c.3811C>T (p.Pro1271Ser)
NM_030582.4(COL18A1):c.3376_3381del (p.Pro1126_Arg1127del)

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.