ClinVar Miner

List of variants reported as likely pathogenic for Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001200.4(BMP2):c.939G>A (p.Trp313Ter)	rs1600173481

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