List of variants in gene LARS2 reported as likely pathogenic for inborn mitochondrial metabolism disorder

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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: 19

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HGVS	dbSNP	gnomAD frequency
NM_015340.4(LARS2):c.308G>A (p.Arg103His)	rs757204777	0.00004
NM_015340.4(LARS2):c.1237G>A (p.Glu413Lys)	rs376296747	0.00003
NM_015340.4(LARS2):c.2134C>T (p.Pro712Ser)	rs764828665	0.00001
NM_015340.4(LARS2):c.1079T>C (p.Ile360Thr)
NM_015340.4(LARS2):c.1115C>G (p.Ser372Ter)	rs1559484149
NM_015340.4(LARS2):c.1193T>C (p.Ile398Thr)
NM_015340.4(LARS2):c.1313A>G (p.Asp438Gly)	rs1575289366
NM_015340.4(LARS2):c.1334_1335del (p.Lys445fs)
NM_015340.4(LARS2):c.1607C>T (p.Pro536Leu)	rs1575292827
NM_015340.4(LARS2):c.2072G>A (p.Trp691Ter)
NM_015340.4(LARS2):c.2099C>T (p.Thr700Ile)	rs1575308774
NM_015340.4(LARS2):c.235-2A>G
NM_015340.4(LARS2):c.388G>A (p.Ala130Thr)	rs1575240334
NM_015340.4(LARS2):c.440A>C (p.Gln147Pro)	rs536853368
NM_015340.4(LARS2):c.457A>C (p.Asn153His)	rs786205560
NM_015340.4(LARS2):c.620G>A (p.Trp207Ter)
NM_015340.4(LARS2):c.683G>A (p.Arg228His)	rs770440975
NM_015340.4(LARS2):c.764C>T (p.Ala255Val)
NM_015340.4(LARS2):c.795A>G (p.Ile265Met)

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