ClinVar Miner

List of variants studied for intellectual developmental disorder, X-linked 111

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_032539.5(SLITRK2):c.1531G>A (p.Val511Met) rs1357978246 0.00001
NM_032539.5(SLITRK2):c.934A>G (p.Thr312Ala) rs782072593 0.00001
NM_032539.5(SLITRK2):c.1121C>G (p.Pro374Arg) rs2073064247
NM_032539.5(SLITRK2):c.1276C>T (p.Arg426Cys) rs2124181878
NM_032539.5(SLITRK2):c.1381G>T (p.Glu461Ter) rs2073068605
NM_032539.5(SLITRK2):c.1937G>A (p.Arg646His)
NM_032539.5(SLITRK2):c.2485G>T (p.Glu829Ter)
NM_032539.5(SLITRK2):c.628G>A (p.Glu210Lys) rs2124163845
NM_032539.5(SLITRK2):c.630G>T (p.Glu210Asp)

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