ClinVar Miner

List of variants reported as pathogenic for X-linked syndromic intellectual disability by LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP
NM_000202.6(IDS):c.[1403G>A;1394A>T]
NM_000202.8(IDS):c.1016T>C (p.Leu339Pro) rs864622771
NM_000202.8(IDS):c.1033T>A (p.Trp345Arg) rs193302906
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.1181-1G>A rs864622777
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000202.8(IDS):c.1393C>T (p.Gln465Ter) rs864622772
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) rs113993946
NM_000202.8(IDS):c.1433A>G (p.Asp478Gly) rs864622773
NM_000202.8(IDS):c.181T>C (p.Ser61Pro) rs113993955
NM_000202.8(IDS):c.191T>A (p.Ile64Asn) rs781997631
NM_000202.8(IDS):c.22_37del (p.Arg8fs) rs864622775
NM_000202.8(IDS):c.241-5A>T rs113993952
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.359C>A (p.Pro120His) rs193302911
NM_000202.8(IDS):c.401G>A (p.Gly134Glu) rs193302910
NM_000202.8(IDS):c.411del (p.His138fs) rs864622776
NM_000202.8(IDS):c.425C>A (p.Ser142Tyr) rs193302908
NM_000202.8(IDS):c.469C>T (p.Pro157Ser) rs864622774
NM_000202.8(IDS):c.508-1G>A rs113993947
NM_000202.8(IDS):c.592G>A (p.Asp198Asn) rs193302904
NM_000202.8(IDS):c.613G>C (p.Ala205Pro) rs864622779
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000202.8(IDS):c.683C>A (p.Pro228Gln) rs113993945
NM_000202.8(IDS):c.708+1G>A rs864622778
NM_000202.8(IDS):c.820G>T (p.Glu274Ter) rs193302907
NM_000202.8(IDS):c.884A>T (p.Lys295Ile) rs113993953
NM_000202.8(IDS):c.906_907CT[1] (p.Ser303fs) rs193302913
NM_000202.8(IDS):c.935G>A (p.Gly312Asp) rs193302912
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853

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