List of variants in gene HIVEP2 reported as pathogenic for autosomal dominant non-syndromic intellectual disability

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

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_006734.4(HIVEP2):c.2827C>T (p.Arg943Ter)	rs869312841
NM_006734.4(HIVEP2):c.2853_2854del (p.Glu953fs)	rs2114653975
NM_006734.4(HIVEP2):c.2857G>T (p.Glu953Ter)	rs869312843
NM_006734.4(HIVEP2):c.2905C>T (p.Gln969Ter)	rs869312842
NM_006734.4(HIVEP2):c.3461_3492dup (p.Glu1165fs)	rs1562505675
NM_006734.4(HIVEP2):c.3556C>T (p.Gln1186Ter)	rs878853269
NM_006734.4(HIVEP2):c.3742C>T (p.Gln1248Ter)	rs1562505335
NM_006734.4(HIVEP2):c.5614dup (p.Glu1872fs)	rs869312844
NM_006734.4(HIVEP2):c.5653A>T (p.Lys1885Ter)
NM_006734.4(HIVEP2):c.5686C>T (p.Gln1896Ter)	rs1775204653
NM_006734.4(HIVEP2):c.5737del (p.Asp1913fs)	rs878853251
NM_006734.4(HIVEP2):c.5764del (p.Asp1922fs)
NM_006734.4(HIVEP2):c.5791dup (p.Thr1931fs)	rs2114611687
NM_006734.4(HIVEP2):c.5856dup (p.Val1953fs)	rs2114611483
NM_006734.4(HIVEP2):c.5890G>T (p.Gly1964Ter)	rs2114611238
NM_006734.4(HIVEP2):c.5900del (p.Ser1967fs)	rs1064796034
NM_006734.4(HIVEP2):c.6475G>T (p.Gly2159Ter)	rs761993070
NM_006734.4(HIVEP2):c.6667C>T (p.Arg2223Ter)	rs1562493608
NM_006734.4(HIVEP2):c.868G>T (p.Glu290Ter)

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