"Revvity Omics, Revvity"[submitter] AND "LIPH"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30669	NM_139248.3(LIPH):c.742C>A (p.His248Asn)	LIPH (H248N)	Single nucleotide variant (missense variant)	Hypotrichosis 7	GLikely pathogenic
Select item 280138	NM_139248.3(LIPH):c.328C>T (p.Arg110Ter)	LIPH (R110*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic