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

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000538.4(RFXAP):c.188del (p.Gly63fs)	rs1388967331
NM_000538.4(RFXAP):c.203dup (p.Lys69fs)	rs1249595284
NM_000538.4(RFXAP):c.359del (p.Gly120fs)	rs1224857205
NM_000538.4(RFXAP):c.368del (p.Ser123fs)	rs775250354

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