List of variants in gene CYLD, NOD2 studied for Blau syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_001370466.1(NOD2):c.*397A>C	rs3135499	0.45667
NM_001370466.1(NOD2):c.*1156G>A	rs3135500	0.44678
NM_001370466.1(NOD2):c.*521C>T	rs5743297	0.01203
NM_001370466.1(NOD2):c.*873C>T	rs373812846	0.00255
NM_001370466.1(NOD2):c.*620G>A	rs116213743	0.00230
NM_001370466.1(NOD2):c.*990T>C	rs192842874	0.00208
NM_001370466.1(NOD2):c.*89C>T	rs184545855	0.00183
NM_001370466.1(NOD2):c.3013G>A (p.Gly1005Ser)	rs147874812	0.00046
NM_001370466.1(NOD2):c.*877C>A	rs140643942	0.00031
NM_001370466.1(NOD2):c.*462C>A	rs562972090	0.00029
NM_001370466.1(NOD2):c.*382C>T	rs535063121	0.00026
NM_001370466.1(NOD2):c.*1201T>A	rs751525993	0.00021
NM_001370466.1(NOD2):c.*470C>T	rs770461687	0.00021
NM_001370466.1(NOD2):c.*1023C>T	rs5743299	0.00019
NM_001370466.1(NOD2):c.*1013A>G	rs549273021	0.00009
NM_001370466.1(NOD2):c.*186C>G	rs886052045	0.00003
NM_001370466.1(NOD2):c.*8G>A	rs199475923	0.00003
NM_001370466.1(NOD2):c.2974C>T (p.Arg992Ter)	rs104895491	0.00003
NM_001370466.1(NOD2):c.*394C>T	rs886052048	0.00002
NM_001370466.1(NOD2):c.*1200A>G	rs980810508	0.00001
NM_001370466.1(NOD2):c.*609C>T	rs1965489095	0.00001
NM_001370466.1(NOD2):c.2970-102C>G	rs104895458	0.00001
NM_001370466.1(NOD2):c.*183C>T	rs547264433
NM_001370466.1(NOD2):c.*325G>A	rs886052046
NM_001370466.1(NOD2):c.329_334dup	rs886052047
NM_001370466.1(NOD2):c.*422C>G	rs886052049
NM_001370466.1(NOD2):c.*64G>C	rs1053712094
NM_001370466.1(NOD2):c.*9G>A	rs104895459
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)	rs2066847

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