ClinVar Miner

List of variants studied for Blau syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001370466.1(NOD2):c.2974C>T (p.Arg992Ter) rs104895491 0.00003
NM_001370466.1(NOD2):c.133G>A (p.Glu45Lys) rs760069458 0.00002
NM_001370466.1(NOD2):c.2865T>G (p.Asn955Lys)

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