ClinVar Miner

List of variants reported as uncertain significance for X-linked syndromic intellectual disability by Baylor Miraca Genetics Laboratories,

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser) rs1569190092
NM_000284.4(PDHA1):c.427G>A (p.Gly143Arg) rs1057518695
NM_000489.5(ATRX):c.4654G>T (p.Val1552Phe)
NM_000533.5(PLP1):c.41C>A (p.Ala14Asp) rs1569427243
NM_000533.5(PLP1):c.677C>G (p.Ser226Cys)
NM_001001344.2(ATP2B3):c.3313T>A (p.Phe1105Ile) rs1569535623
NM_001184880.2(PCDH19):c.919G>A (p.Glu307Lys) rs1569315225
NM_001323289.2(CDKL5):c.409A>G (p.Lys137Glu) rs1569214324
NM_001323289.2(CDKL5):c.818T>C (p.Leu273Pro) rs1569217205
NM_003477.3(PDHX):c.1129A>G (p.Ile377Val) rs75430333
NM_003611.3(OFD1):c.604_609del (p.Glu202_Tyr203del)
NM_004992.3(MECP2):c.568C>T (p.Arg190Cys) rs587783137
NM_005006.7(NDUFS1):c.1249A>G (p.Arg417Gly)
NM_005006.7(NDUFS1):c.2129G>A (p.Cys710Tyr)
NM_005249.5(FOXG1):c.1397G>A (p.Gly466Glu) rs1566446008
NM_005629.4(SLC6A8):c.340C>A (p.Gln114Lys) rs1569539246
NM_005710.2(PQBP1):c.541C>T (p.Arg181Trp)
NM_007075.3(WDR45):c.158_160TGG[1] (p.Val54del) rs864309661
NM_007325.5(GRIA3):c.2116A>C (p.Met706Leu) rs1569441235
NM_007325.5(GRIA3):c.2408G>A (p.Gly803Glu) rs1569442989
NM_007325.5(GRIA3):c.2447C>T (p.Thr816Ile) rs1569443329
NM_024120.5(NDUFAF5):c.836T>G (p.Met279Arg) rs761389904
NM_031407.7(HUWE1):c.-24-2A>G rs1569511527
NM_178152.3(DCX):c.557G>A (p.Arg186His) rs587783563

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