List of variants in gene RFXAP 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000538.4(RFXAP):c.163C>T (p.Gln55Ter)	rs137853098
NM_000538.4(RFXAP):c.219C>G (p.Tyr73Ter)	rs1415196376
NM_000538.4(RFXAP):c.302dup (p.Gly102fs)	rs1250669587
NM_000538.4(RFXAP):c.350del (p.His117fs)	rs2500443426
NM_000538.4(RFXAP):c.368del (p.Ser123fs)	rs775250354

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