List of variants in gene combination NEB, RIF1 reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_001164508.2(NEB):c.22144A>C (p.Thr7382Pro)	rs761232641	0.00001
NM_001164508.2(NEB):c.22479+1G>C	rs1057515575
NM_001164508.2(NEB):c.22641del (p.Met7547fs)	rs1057515573
NM_001164508.2(NEB):c.23395_23398dup (p.Leu7800fs)	rs1057515574
NM_001164508.2(NEB):c.23421_23422del (p.Arg7807fs)	rs1553603400
NM_001164508.2(NEB):c.24687_24688del (p.Asn8230fs)	rs1559154278
NM_001164508.2(NEB):c.25174G>T (p.Glu8392Ter)	rs121913662

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