ClinVar Miner

List of variants in gene SMS reported as pathogenic for X-linked syndromic intellectual disability

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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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.329+5G>A rs397515381
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.443A>G (p.Gln148Arg) rs397515551
NM_004595.5(SMS):c.449T>C (p.Ile150Thr) rs397515552
NM_004595.5(SMS):c.908_911del (p.Met303fs) rs1602220706
NM_004595.5(SMS):c.983A>C (p.Tyr328Ser) rs397515553
NM_004595.5(SMS):c.983A>G (p.Tyr328Cys) rs397515553

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