ClinVar Miner

List of variants in gene SMS studied for X-linked syndromic intellectual disability

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_004595.4(SMS):c.1026A>C (p.Ser342=) rs61732077
NM_004595.4(SMS):c.166G>A (p.Gly56Ser) rs121434610
NM_004595.4(SMS):c.174T>A (p.Phe58Leu) rs397515549
NM_004595.4(SMS):c.200G>A (p.Gly67Glu) rs397515550
NM_004595.4(SMS):c.329+5G>A rs397515381
NM_004595.4(SMS):c.395T>G (p.Val132Gly) rs267607076
NM_004595.4(SMS):c.443A>G (p.Gln148Arg) rs397515551
NM_004595.4(SMS):c.449T>C (p.Ile150Thr) rs397515552
NM_004595.4(SMS):c.983A>C (p.Tyr328Ser) rs397515553
NM_004595.4(SMS):c.983A>G (p.Tyr328Cys) rs397515553

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