ClinVar Miner

List of variants in gene NOD2 reported as not provided for Blau syndrome; Inflammatory bowel disease 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001370466.1(NOD2):c.1709C>T (p.Ala570Val)	rs377554134	0.00011
NM_001370466.1(NOD2):c.947T>C (p.Leu316Pro)	rs369732140	0.00003

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