ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Mayo Clinic Genetic Testing Laboratories,Mayo Clinic

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val) rs367799134
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu)
NM_000291.4(PGK1):c.248T>C (p.Val83Ala) rs138851144
NM_000533.5(PLP1):c.140T>C (p.Ile47Thr) rs1060500909
NM_001039591.3(USP9X):c.44del (p.Asn15fs) rs1555917927
NM_001278116.2(L1CAM):c.3654G>C (p.Gln1218His) rs1369743518
NM_001356.4(DDX3X):c.1486G>A (p.Val496Met) rs1555954154
NM_001931.4(DLAT):c.1202C>T (p.Pro401Leu) rs781794850
NM_001931.4(DLAT):c.572C>T (p.Ala191Val) rs200500508
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro) rs149323691
NM_004586.3(RPS6KA3):c.1877C>T (p.Pro626Leu) rs1555926370
NM_004992.3(MECP2):c.1137dup (p.Val380fs) rs1557135793
NM_004992.3(MECP2):c.419C>T (p.Ala140Val) rs28934908
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_018684.4(ZC4H2):c.427C>T (p.Gln143Ter) rs1260869746
NM_025152.3(NUBPL):c.349A>G (p.Met117Val)
NM_025152.3(NUBPL):c.815-27T>C rs118161496
NM_031407.7(HUWE1):c.4229C>T (p.Ala1410Val) rs200500110
NM_080632.2(UPF3B):c.1118G>A (p.Arg373His) rs146785878
NM_178152.3(DCX):c.809-1G>A rs587783589

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