List of variants in gene LARS2 reported as 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)	rs199589947	0.00025
NM_015340.4(LARS2):c.1556C>T (p.Thr519Met)	rs141097216	0.00002
NM_015340.4(LARS2):c.1670A>G (p.Tyr557Cys)	rs1269970737	0.00001
NM_015340.4(LARS2):c.1886C>T (p.Thr629Met)	rs398123036	0.00001
NM_015340.4(LARS2):c.1987C>T (p.Arg663Trp)	rs774649299	0.00001
NM_015340.4(LARS2):c.880G>A (p.Glu294Lys)	rs749627411	0.00001
NM_015340.4(LARS2):c.899C>T (p.Thr300Met)	rs864309642	0.00001
NM_015340.3(LARS2):c.[1912G>A];[899C>T]
NM_015340.4(LARS2):c.1077del (p.Ile360fs)	rs398123037
NM_015340.4(LARS2):c.1783del (p.Ala595fs)	rs2125750668
NM_015340.4(LARS2):c.1912G>A (p.Glu638Lys)	rs864309643
NM_015340.4(LARS2):c.371A>T (p.Asn124Ile)	rs776171893
NM_015340.4(LARS2):c.41_42del (p.Leu14fs)	rs1698009919
NM_015340.4(LARS2):c.683G>A (p.Arg228His)	rs770440975

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