C3887873[trait identifier] AND "GenomeConnect, ClinGen"[submitter] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 229257	NM_000441.2(SLC26A4):c.2317G>A (p.Glu773Lys)	SLC26A4 (E773K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 229100	NM_001292063.2(OTOG):c.6997G>A (p.Val2333Met)	OTOG (V2345M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 228274	NM_001031679.3(MSRB3):c.264-1G>A	MSRB3	Single nucleotide variant (splice acceptor variant)	Rare genetic deafness	GLikely pathogenic
Select item 17000	NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	GJB2 (M34T)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 17004	NM_004004.6(GJB2):c.35del (p.Gly12fs)	GJB2 (G12fs)	Deletion	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database

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