ClinVar Miner

List of variants reported as likely benign for Knobloch syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_030582.4(COL18A1):c.*306G>C rs17004785
NM_030582.4(COL18A1):c.*852G>C rs17004786
NM_030582.4(COL18A1):c.1050A>G (p.Ala350=) rs76754353
NM_030582.4(COL18A1):c.1143C>T (p.Ala381=) rs17004776
NM_030582.4(COL18A1):c.1164G>A (p.Ala388=) rs76148908
NM_030582.4(COL18A1):c.1316G>T (p.Arg439Leu) rs62000965
NM_030582.4(COL18A1):c.1368G>A (p.Ala456=) rs2230686
NM_030582.4(COL18A1):c.1455G>T (p.Val485=) rs17338853
NM_030582.4(COL18A1):c.1549G>A (p.Gly517Ser) rs76547444
NM_030582.4(COL18A1):c.1683G>A (p.Ala561=) rs2230689
NM_030582.4(COL18A1):c.1761+14T>C rs9976881
NM_030582.4(COL18A1):c.1764C>G (p.Gly588=) rs13046486
NM_030582.4(COL18A1):c.1845C>A (p.Gly615=) rs1131102
NM_030582.4(COL18A1):c.1938+7C>G rs74439012
NM_030582.4(COL18A1):c.2049C>T (p.Gly683=) rs112723616
NM_030582.4(COL18A1):c.2490G>A (p.Pro830=) rs61731167
NM_030582.4(COL18A1):c.2657C>G (p.Pro886Arg) rs79980197
NM_030582.4(COL18A1):c.2713G>A (p.Val905Met) rs116111018
NM_030582.4(COL18A1):c.2736G>A (p.Pro912=) rs115470104
NM_030582.4(COL18A1):c.2817+14G>T rs145217573
NM_030582.4(COL18A1):c.2880G>C (p.Gln960His) rs2230693
NM_030582.4(COL18A1):c.3268-8G>A rs116618591
NM_030582.4(COL18A1):c.3321C>T (p.Pro1107=) rs11544970
NM_030582.4(COL18A1):c.3355G>A (p.Gly1119Ser) rs753363173
NM_030582.4(COL18A1):c.3372A>C (p.Pro1124=) rs751825604
NM_030582.4(COL18A1):c.3771A>G (p.Pro1257=) rs886057130
NM_030582.4(COL18A1):c.4213G>A (p.Val1405Ile) rs750065884
NM_030582.4(COL18A1):c.4221C>T (p.Leu1407=) rs886057134
NM_030582.4(COL18A1):c.4318G>A (p.Asp1440Asn) rs886057136
NM_030582.4(COL18A1):c.4363G>T (p.Gly1455Cys) rs886057137
NM_030582.4(COL18A1):c.666G>A (p.Val222=) rs115800039
NM_030582.4(COL18A1):c.781C>T (p.Arg261Trp) rs76658745
NM_030582.4(COL18A1):c.960A>G (p.Thr320=) rs17004775
NM_130445.3(COL18A1):c.1221+20dupC rs200362222
NM_194255.4(SLC19A1):c.*2983A>G rs17004784

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