"Department of Pathology and Laboratory Medicine, Sinai Health System" - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 728850	NM_015425.6(POLR1A):c.2017C>G (p.Pro673Ala)	POLR1A (P673A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1049963	NM_015425.6(POLR1A):c.1370G>T (p.Gly457Val)	POLR1A (G457V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 724172	NM_015425.6(POLR1A):c.1097C>T (p.Ser366Phe)	POLR1A (S366F)	Single nucleotide variant (missense variant)	POLR1A-related disorder +1 more	GLikely benign

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