List of variants reported as pathogenic for Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001395413.1(POR):c.6A>G (p.Gly2=)	rs10262966	0.07713
NM_001395413.1(POR):c.850G>C (p.Ala284Pro)	rs121912974	0.00023
NM_001395413.1(POR):c.1816C>T (p.Gln606Ter)	rs782261248	0.00006
NM_001395413.1(POR):c.1361G>A (p.Arg454His)	rs28931608	0.00005
NM_001395413.1(POR):c.723-2A>T	rs782343026	0.00004
NM_001395413.1(POR):c.1354del (p.Gln452fs)	rs781805159	0.00002
NM_001395413.1(POR):c.1606G>A (p.Gly536Arg)	rs121912976	0.00002
NM_001395413.1(POR):c.1320dup (p.Ile441fs)	rs786205875
NM_001395413.1(POR):c.1434C>A (p.Tyr478Ter)	rs373613946
NM_001395413.1(POR):c.1466T>A (p.Val489Glu)	rs28931606
NM_001395413.1(POR):c.1660+1G>A
NM_001395413.1(POR):c.1718dup (p.Tyr573Ter)
NM_001395413.1(POR):c.1724A>G (p.Tyr575Cys)	rs121912975
NM_001395413.1(POR):c.1826_1849del (p.Leu609_Trp617delinsArg)	rs786205876
NM_001395413.1(POR):c.559_571dup (p.Arg191fs)	rs786205878
NM_001395413.1(POR):c.722+1G>A	rs786205099
NM_001395413.1(POR):c.735C>G (p.Tyr245Ter)
NM_001395413.1(POR):c.821+1G>A

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