ClinVar Miner

List of variants reported as pathogenic for Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001395413.1(POR):c.850G>C (p.Ala284Pro)	rs121912974	0.00023
NM_001395413.1(POR):c.1816C>T (p.Gln606Ter)	rs782261248	0.00006

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