ClinVar Miner

List of variants in gene SMS reported as likely pathogenic for Syndromic X-linked intellectual disability Snyder type

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004595.5(SMS):c.152A>G (p.Tyr51Cys) rs2147508108
NM_004595.5(SMS):c.328C>G (p.Arg110Gly) rs1924243873
NM_004595.5(SMS):c.410A>G (p.Asp137Gly) rs1924586809
NM_004595.5(SMS):c.587T>C (p.Ile196Thr) rs1924648986
NM_004595.5(SMS):c.674T>C (p.Val225Ala)
NM_004595.5(SMS):c.700C>T (p.Arg234Ter)
NM_004595.5(SMS):c.865+2T>C rs2146953457

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