List of variants in gene combination LOC126860075, POR reported as pathogenic by Labcorp Genetics (formerly Invitae), Labcorp

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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: 7

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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.1033del (p.Val345fs)	rs1563433095	0.00002
NM_001395413.1(POR):c.1044del (p.Asn349fs)	rs782024141	0.00001
NM_001395413.1(POR):c.1020del (p.Asp341fs)	rs782425291
NM_001395413.1(POR):c.828del (p.Phe276fs)	rs2535392949
NM_001395413.1(POR):c.955dup (p.His319fs)	rs2535394735
NM_001395413.1(POR):c.981_988dup (p.Leu330fs)	rs2535395073

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