ClinVar Miner

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

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NC_000023.10:g.(?_17393861)_(17653740_?)del
NC_000023.10:g.(?_17393861)_(17753592_?)del
NC_000023.10:g.(?_17710435)_(17710608_?)del
NM_198270.4(NHS):c.1117C>T (p.Arg373Ter) rs132630322
NM_198270.4(NHS):c.115C>T (p.Gln39Ter) rs104894881
NM_198270.4(NHS):c.1399_1402del (p.Asp467fs) rs1556038355
NM_198270.4(NHS):c.2387dup (p.Ser797fs) rs786205255
NM_198270.4(NHS):c.2414G>A (p.Trp805Ter) rs1569319773
NM_198270.4(NHS):c.277G>T (p.Glu93Ter) rs1341004065
NM_198270.4(NHS):c.3459del (p.Leu1154fs) rs786205256
NM_198270.4(NHS):c.3595_3599del (p.Asn1199fs)
NM_198270.4(NHS):c.4093A>T (p.Lys1365Ter) rs1556039901
NM_198270.4(NHS):c.4385C>G (p.Ser1462Cys) rs1481421967
NM_198270.4(NHS):c.718+1dup rs1556030707
NM_198270.4(NHS):c.742C>T (p.Arg248Ter) rs1569310232
NM_198270.4(NHS):c.814C>T (p.Gln272Ter) rs1569310288
NM_198270.4(NHS):c.852+1del rs786205677
NM_198270.4(NHS):c.853-2A>G rs786205257

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