List of variants in gene LARS2 reported as uncertain significance 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_015340.4(LARS2):c.1178C>A (p.Ala393Asp)	rs138121304	0.00029
NM_015340.4(LARS2):c.2620G>A (p.Glu874Lys)	rs142215302	0.00015
NM_015340.4(LARS2):c.1784C>A (p.Ala595Asp)	rs772859137	0.00001
NM_015340.4(LARS2):c.1249A>G (p.Met417Val)
NM_015340.4(LARS2):c.1291C>T (p.Arg431Trp)
NM_015340.4(LARS2):c.1922G>A (p.Ser641Asn)
NM_015340.4(LARS2):c.1979A>T (p.Asp660Val)	rs1348647519
NM_015340.4(LARS2):c.2269A>T (p.Met757Leu)	rs1478071728
NM_015340.4(LARS2):c.2285C>A (p.Ala762Asp)	rs868411376
NM_015340.4(LARS2):c.2608G>T (p.Val870Phe)

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