ClinVar Miner

List of variants studied for Perrault syndrome 1 by Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter)	rs771510541	0.00001
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu)	rs1749878115

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