ClinVar Miner

List of variants reported as uncertain significance for Syndromic X-linked intellectual disability Snyder type

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_004595.5(SMS):c.1019A>G (p.Glu340Gly) rs751460863 0.00002
NM_004595.5(SMS):c.799G>A (p.Gly267Arg) rs757074790 0.00002
NM_004595.5(SMS):c.872C>A (p.Thr291Lys) rs755701744 0.00001
NM_004595.5(SMS):c.997G>C (p.Gly333Arg) rs1200431087 0.00001
NM_004595.5(SMS):c.1061+2T>C
NM_004595.5(SMS):c.113C>T (p.Ser38Leu)
NM_004595.5(SMS):c.13C>G (p.Arg5Gly) rs1921698887
NM_004595.5(SMS):c.261C>G (p.Asp87Glu)
NM_004595.5(SMS):c.289A>G (p.Met97Val)
NM_004595.5(SMS):c.329G>A (p.Arg110Gln) rs2147513193
NM_004595.5(SMS):c.335C>A (p.Pro112Gln)

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