ClinVar for OMIM (Select 619697) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1332894	NM_001029860.4(FBXO43):c.154del (p.Asp52fs)	FBXO43 (D52fs)	Deletion (frameshift variant +1 more)	Oocyte maturation defect 12	GPathogenic
Select item 1332893	NM_001029860.4(FBXO43):c.1490_1497dup (p.Glu500delinsSerTer)	FBXO43	Duplication (nonsense +1 more)	Oocyte maturation defect 12	GPathogenic
Select item 1332892	NM_001029860.4(FBXO43):c.1747C>T (p.Gln583Ter)	FBXO43	Single nucleotide variant (nonsense +1 more)	Spermatogenic failure 64 +1 more	GPathogenic

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