ClinVar Miner

List of variants studied for Syndromic X-linked intellectual disability Snyder type

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_004595.5(SMS):c.170+30C>T rs3747276 0.51062
NM_004595.5(SMS):c.866-32T>C rs2071136 0.09321
NM_004595.5(SMS):c.1026A>C (p.Ser342=) rs61732077 0.00399
NM_004595.5(SMS):c.114G>A (p.Ser38=) rs138924455 0.00014
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.152A>G (p.Tyr51Cys) rs2147508108
NM_004595.5(SMS):c.166G>A (p.Gly56Ser) rs121434610
NM_004595.5(SMS):c.174T>A (p.Phe58Leu) rs397515549
NM_004595.5(SMS):c.200G>A (p.Gly67Glu) rs397515550
NM_004595.5(SMS):c.261C>G (p.Asp87Glu)
NM_004595.5(SMS):c.289A>G (p.Met97Val)
NM_004595.5(SMS):c.328C>G (p.Arg110Gly) rs1924243873
NM_004595.5(SMS):c.329+5G>A rs397515381
NM_004595.5(SMS):c.329G>A (p.Arg110Gln) rs2147513193
NM_004595.5(SMS):c.335C>A (p.Pro112Gln)
NM_004595.5(SMS):c.388C>T (p.Arg130Cys) rs1602210346
NM_004595.5(SMS):c.395T>G (p.Val132Gly) rs267607076
NM_004595.5(SMS):c.410A>G (p.Asp137Gly) rs1924586809
NM_004595.5(SMS):c.443A>G (p.Gln148Arg) rs397515551
NM_004595.5(SMS):c.587T>C (p.Ile196Thr) rs1924648986
NM_004595.5(SMS):c.608G>A (p.Gly203Asp) rs1924650670
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
NM_004595.5(SMS):c.908_911del (p.Met303fs) rs1602220706
NM_004595.5(SMS):c.983A>G (p.Tyr328Cys) rs397515553

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