List of variants reported as likely pathogenic for Perrault syndrome 1

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_014672.4(PRORP):c.1235A>G (p.Asn412Ser)	rs148259590	0.00024
NM_000414.4(HSD17B4):c.1333+1G>C	rs1369305726	0.00001
NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp)	rs775766910	0.00001
NM_000138.5(FBN1):c.1867T>A (p.Cys623Ser)	rs2141317422
NM_000414.4(HSD17B4):c.1767G>A (p.Lys589=)	rs142527052
NM_000414.4(HSD17B4):c.367C>G (p.His123Asp)	rs786205574
NM_000414.4(HSD17B4):c.466T>C (p.Tyr156His)	rs2126702600
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu)	rs1749878115
NM_000414.4(HSD17B4):c.865C>T (p.Gln289Ter)
NM_014672.4(PRORP):c.1454C>T (p.Ala485Val)	rs1169927428

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