"3billion"[submitter] AND "RMRP"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 639569	NR_003051.4(RMRP):n.232C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 550994	NR_003051.4(RMRP):n.42G>A	RMRP	Single nucleotide variant	Anauxetic dysplasia +1 more	GLikely pathogenic
Select item 965369	NR_003051.3(RMRP):n.5_6insTACTCTGTGAAGCTGAGGACGTGGTTC	RMRP	Duplication	Anauxetic dysplasia +1 more	GConflicting classifications of pathogenicity
Select item 552477	NR_003051.4(RMRP):n.6C>T	RMRP	Single nucleotide variant	Anauxetic dysplasia +4 more	GPathogenic/Likely pathogenic

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