List of variants reported as likely benign for deafness-encephaloneuropathy-obesity-valvulopathy syndrome

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001012750.3(ABI1):c.*1940A>C	rs1046187	0.02265
NM_014317.5(PDSS1):c.*3A>G	rs115180525	0.00350
NM_001012750.3(ABI1):c.*1833T>A	rs144623506	0.00283
NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu)	rs116424900	0.00176
NM_014317.5(PDSS1):c.1027-11T>C	rs142244210	0.00084
NM_014317.5(PDSS1):c.411A>G (p.Arg137=)	rs114640034	0.00083
NM_014317.5(PDSS1):c.130-18T>C	rs375014698	0.00031
NM_014317.5(PDSS1):c.1032A>G (p.Pro344=)	rs200147190	0.00006
NM_014317.5(PDSS1):c.987C>T (p.Leu329=)	rs769755433	0.00004
NM_014317.5(PDSS1):c.426G>A (p.Ala142=)	rs149274703	0.00003
NM_014317.5(PDSS1):c.227+10C>T	rs778136255	0.00001

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