List of variants in gene POR reported as pathogenic for Antley-Bixler syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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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.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.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.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

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