ClinVar Miner

List of variants studied for Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001395413.1(POR):c.1640G>A (p.Arg547Gln)	rs1320059073	0.00004
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg)	rs121912976	0.00002
NM_001395413.1(POR):c.1660+1G>A

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