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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_004595.5(SMS):c.166G>A (p.Gly56Ser)	rs121434610
NM_004595.5(SMS):c.200G>A (p.Gly67Glu)	rs397515550
NM_004595.5(SMS):c.329+5G>A	rs397515381
NM_004595.5(SMS):c.335C>T (p.Pro112Leu)	rs2147517480
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.608G>A (p.Gly203Asp)	rs1924650670
NM_004595.5(SMS):c.661-13A>C
NM_004595.5(SMS):c.908_911del (p.Met303fs)	rs1602220706
NM_004595.5(SMS):c.983A>G (p.Tyr328Cys)	rs397515553

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