ClinVar Miner

List of variants in gene combination COL18A1, SLC19A1 reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001379500.1(COL18A1):c.*864C>A rs186538749 0.00189
NM_001379500.1(COL18A1):c.*484C>T rs548084117 0.00070
NM_001379500.1(COL18A1):c.*498G>A rs555167805 0.00051
NM_001379500.1(COL18A1):c.*1209C>T rs531456579 0.00049
NM_001379500.1(COL18A1):c.*431G>A rs368394587 0.00048
NM_001379500.1(COL18A1):c.*1107C>G rs543512810 0.00044
NM_001379500.1(COL18A1):c.*718A>G rs571996497 0.00036
NM_001379500.1(COL18A1):c.*30G>A rs373537387 0.00033
NM_001379500.1(COL18A1):c.*1000C>A rs1017336505 0.00030
NM_001379500.1(COL18A1):c.2693C>T (p.Pro898Leu) rs201753320 0.00026
NM_001379500.1(COL18A1):c.*851C>T rs886057145 0.00025
NM_001379500.1(COL18A1):c.*291G>A rs148610040 0.00022
NM_001379500.1(COL18A1):c.*1157C>G rs527507454 0.00016
NM_001379500.1(COL18A1):c.*1222C>T rs569200043 0.00016
NM_001379500.1(COL18A1):c.*134G>A rs570448232 0.00015
NM_001379500.1(COL18A1):c.*505G>A rs886057141 0.00009
NM_001379500.1(COL18A1):c.*1062C>T rs992675252 0.00008
NM_001379500.1(COL18A1):c.*824G>A rs538694500 0.00008
NM_001379500.1(COL18A1):c.*1088C>T rs756987643 0.00007
NM_001379500.1(COL18A1):c.*638G>A rs886057144 0.00007
NM_001379500.1(COL18A1):c.*133T>C rs886057138 0.00006
NM_001379500.1(COL18A1):c.*390G>A rs760605806 0.00006
NM_001379500.1(COL18A1):c.*732C>T rs751709666 0.00006
NM_001379500.1(COL18A1):c.*95A>C rs1002803301 0.00006
NM_001379500.1(COL18A1):c.2788G>A (p.Gly930Ser) rs771054336 0.00004
NM_001379500.1(COL18A1):c.*369C>T rs886057140 0.00002
NM_001379500.1(COL18A1):c.2780_2781insT (p.Gly928fs) rs771218061 0.00002
NM_001379500.1(COL18A1):c.3547C>T (p.Arg1183Cys) rs746594158 0.00002
NM_001379500.1(COL18A1):c.*1235T>C rs1441665870 0.00001
NM_001379500.1(COL18A1):c.*12A>T rs981074972 0.00001
NM_001379500.1(COL18A1):c.*584C>A rs886057143 0.00001
NM_001379500.1(COL18A1):c.3548G>A (p.Arg1183His) rs770331440 0.00001
NM_001379500.1(COL18A1):c.*1203A>G rs886057147
NM_001379500.1(COL18A1):c.*126C>T rs571271547
NM_001379500.1(COL18A1):c.*13T>A rs747722915
NM_001379500.1(COL18A1):c.*305C>T rs540888320
NM_001379500.1(COL18A1):c.*342C>G rs886057139
NM_001379500.1(COL18A1):c.*550dup rs545057492
NM_001379500.1(COL18A1):c.*866C>T rs886057146
NM_001379500.1(COL18A1):c.*954C>T rs1602673287
NM_001379500.1(COL18A1):c.2728-12T>C rs2037056022
NM_001379500.1(COL18A1):c.2781C>G (p.Pro927=) rs11544970
NM_001379500.1(COL18A1):c.2899C>T (p.Pro967Ser) rs761528498
NM_001379500.1(COL18A1):c.2956C>T (p.Pro986Ser) rs753873000
NM_001379500.1(COL18A1):c.3030C>T (p.Gly1010=) rs886057129
NM_001379500.1(COL18A1):c.3367G>A (p.Ala1123Thr) rs886057131
NM_001379500.1(COL18A1):c.3558C>T (p.Asp1186=) rs886057132
NM_001379500.1(COL18A1):c.3658G>A (p.Ala1220Thr) rs886057133
NM_001379500.1(COL18A1):c.3765C>T (p.Arg1255=) rs886057135

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