ClinVar Miner

List of variants reported as pathogenic for Boudin-Mortier syndrome by OMIM

Included ClinVar conditions (1):
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001204375.2(NPR3):c.1088A>T (p.Asp363Val) rs1741953064
NM_001204375.2(NPR3):c.1524del (p.Lys507_Tyr508insTer) rs753386861
NM_001204375.2(NPR3):c.248del (p.Val83fs) rs2111840582
NM_001204375.2(NPR3):c.442T>C (p.Ser148Pro) rs1433125500

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