List of variants in gene LARS2 reported as likely pathogenic for Perrault syndrome 4

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_015340.4(LARS2):c.1237G>A (p.Glu413Lys)	rs376296747	0.00003
NM_015340.4(LARS2):c.1079T>C (p.Ile360Thr)
NM_015340.4(LARS2):c.1115C>G (p.Ser372Ter)	rs1559484149
NM_015340.4(LARS2):c.1607C>T (p.Pro536Leu)	rs1575292827
NM_015340.4(LARS2):c.2072G>A (p.Trp691Ter)
NM_015340.4(LARS2):c.440A>C (p.Gln147Pro)	rs536853368
NM_015340.4(LARS2):c.457A>C (p.Asn153His)	rs786205560

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