List of variants studied for Deafness-encephaloneuropathy-obesity-valvulopathy syndrome by Genome-Nilou Lab

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_014317.5(PDSS1):c.609+46A>G	rs1780196	0.88595
NM_014317.5(PDSS1):c.130-46T>C	rs1780186	0.65133
NM_014317.5(PDSS1):c.130-23del	rs71403882	0.61230
NM_014317.5(PDSS1):c.336+22G>A	rs1748356	0.52543
NM_014317.5(PDSS1):c.467+42G>C	rs2368183	0.27040
NM_014317.5(PDSS1):c.163-5del	rs34296355

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