List of variants in gene LARS2 reported as likely pathogenic for Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome

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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.2134C>T (p.Pro712Ser)	rs764828665	0.00001
NM_015340.4(LARS2):c.1313A>G (p.Asp438Gly)	rs1575289366
NM_015340.4(LARS2):c.1607C>T (p.Pro536Leu)	rs1575292827
NM_015340.4(LARS2):c.2099C>T (p.Thr700Ile)	rs1575308774
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.683G>A (p.Arg228His)	rs770440975

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