ClinVar Miner

List of variants studied for autosomal dominant popliteal pterygium syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_020639.3(RIPK4):c.*782_*783dup rs34075882 0.40146
NM_006147.4(IRF6):c.*2394dup rs144945364 0.00999
NM_006147.4(IRF6):c.*804_*805insT rs886045880 0.00006
NM_020639.2(RIPK4):c.-44C>G rs774016517 0.00001
NM_006147.3(IRF6):c.-313T>A rs34743335
NM_006147.4(IRF6):c.*219_*220insCA rs886045882
NM_006147.4(IRF6):c.*803dup rs886045881
NM_020639.3(RIPK4):c.*1039dup rs886057083

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