ClinVar Miner

List of variants reported as not provided for Blau syndrome by GenomeConnect - Invitae Patient Insights Network

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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.1198C>T (p.Pro400Ser)	rs760982375	0.00004
NM_001370466.1(NOD2):c.631A>T (p.Ser211Cys)	rs1001861018

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