ClinVar Miner

List of variants reported as likely pathogenic for Short stature, optic nerve atrophy, and Pelger-Huet anomaly

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Total variants: 3
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NM_015909.4(NBAS):c.2012T>G (p.Phe671Cys) rs143212851
NM_015909.4(NBAS):c.3164T>C (p.Leu1055Pro) rs796052121

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