List of variants in gene PDSS1 reported as pathogenic for deafness-encephaloneuropathy-obesity-valvulopathy syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_014317.5(PDSS1):c.1108A>C (p.Ser370Arg)	rs1057519354
NM_014317.5(PDSS1):c.1164_1165del (p.Ile388fs)	rs1425736863
NM_014317.5(PDSS1):c.1183C>T (p.Arg395Ter)
NM_014317.5(PDSS1):c.661C>T (p.Arg221Ter)
NM_014317.5(PDSS1):c.716T>G (p.Val239Gly)
NM_014317.5(PDSS1):c.735G>T (p.Gln245His)
NM_014317.5(PDSS1):c.924T>G (p.Asp308Glu)	rs119463988

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