ClinVar Miner

List of variants in gene LIAS reported as uncertain significance for X-linked syndromic intellectual disability

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP
NM_006859.3(LIAS):c.553_561delATGCCTGAT (p.Met185_Asp187del) rs776064587
NM_006859.4(LIAS):c.108G>T (p.Lys36Asn)
NM_006859.4(LIAS):c.1106_1110del (p.Thr369fs) rs1560674852
NM_006859.4(LIAS):c.110A>T (p.Glu37Val) rs763606110
NM_006859.4(LIAS):c.120G>T (p.Gln40His) rs1041843537
NM_006859.4(LIAS):c.122A>G (p.Asn41Ser) rs761295906
NM_006859.4(LIAS):c.140A>G (p.Asp47Gly) rs1184621128
NM_006859.4(LIAS):c.173C>T (p.Thr58Ile) rs141723499
NM_006859.4(LIAS):c.218G>C (p.Arg73Thr) rs1172950083
NM_006859.4(LIAS):c.244A>G (p.Thr82Ala) rs1560666276
NM_006859.4(LIAS):c.292C>T (p.Arg98Trp)
NM_006859.4(LIAS):c.312A>G (p.Thr104=)
NM_006859.4(LIAS):c.331T>A (p.Cys111Ser) rs747124026
NM_006859.4(LIAS):c.393+4G>A rs368453789
NM_006859.4(LIAS):c.393+7C>T
NM_006859.4(LIAS):c.403G>C (p.Asp135His)
NM_006859.4(LIAS):c.473G>C (p.Ser158Thr) rs751421705
NM_006859.4(LIAS):c.550+4A>G rs1560668262
NM_006859.4(LIAS):c.563G>C (p.Gly188Ala) rs1210720598
NM_006859.4(LIAS):c.592T>A (p.Ser198Thr) rs1553934367
NM_006859.4(LIAS):c.620T>G (p.Ile207Ser)
NM_006859.4(LIAS):c.637A>G (p.Thr213Ala) rs374709255
NM_006859.4(LIAS):c.643G>A (p.Asp215Asn) rs1560669433
NM_006859.4(LIAS):c.650G>A (p.Arg217Gln)
NM_006859.4(LIAS):c.657T>A (p.Asp219Glu)
NM_006859.4(LIAS):c.683T>C (p.Leu228Pro) rs1553934545
NM_006859.4(LIAS):c.725C>T (p.Pro242Leu)
NM_006859.4(LIAS):c.746G>A (p.Arg249His) rs144133667
NM_006859.4(LIAS):c.751C>T (p.Pro251Ser)
NM_006859.4(LIAS):c.769C>G (p.Gln257Glu)
NM_006859.4(LIAS):c.797A>G (p.Lys266Arg) rs1560671038
NM_006859.4(LIAS):c.80C>T (p.Pro27Leu)
NM_006859.4(LIAS):c.832A>C (p.Ile278Leu)
NM_006859.4(LIAS):c.850G>A (p.Glu284Lys) rs796052699
NM_006859.4(LIAS):c.890G>A (p.Arg297His)
NM_006859.4(LIAS):c.905A>G (p.Asp302Gly) rs1206469888
NM_006859.4(LIAS):c.944G>A (p.Arg315His) rs145535775

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