ClinVar Miner

List of variants reported as likely pathogenic for Perrault syndrome

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000414.4(HSD17B4):c.270del (p.Phe90fs)	rs1276397342
NM_012208.4(HARS2):c.1439G>A (p.Arg480His)	rs200089613
NM_015340.4(LARS2):c.457A>C (p.Asn153His)	rs786205560

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