C4748997[trait identifier] AND "OMIM"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2446403	NM_021975.4(RELA):c.1459del (p.His487fs)	RELA (H360fs +8 more)	Deletion (frameshift variant +1 more)	Mucocutaneous ulceration, chronic	GPathogenic
Select item 2446404	NM_021975.4(RELA):c.1006dup (p.Arg336fs)	RELA (R209fs +7 more)	Duplication (frameshift variant)	Mucocutaneous ulceration, chronic	GPathogenic
Select item 617487	NM_021975.4(RELA):c.559+1G>A	RELA	Single nucleotide variant (splice donor variant)	Mucocutaneous ulceration, chronic	GPathogenic

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