"OMIM"[submitter] AND "KEL"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 31082	NM_000420.3(KEL):c.1790T>C (p.Leu597Pro)	KEL (L597P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 17722	NM_000420.3(KEL):c.578C>T (p.Thr193Met)	KEL (T193M)	Single nucleotide variant (missense variant)	KELL K/k BLOOD GROUP POLYMORPHISM	GBenign
Select item 17723	NM_000420.3(KEL):c.223+1G>C	KEL	Single nucleotide variant (splice donor variant)	KELL-NULL PHENOTYPE	GPathogenic

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