ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by GenomeConnect, ClinGen

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_001008537.3(NEXMIF):c.4268G>A (p.Arg1423His)
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu) rs1557178957
NM_002495.4(NDUFS4):c.351-11_351-8del rs375549253
NM_003477.3(PDHX):c.479G>A (p.Arg160His) rs747386411
NM_004187.4(KDM5C):c.470A>G (p.Tyr157Cys) rs1556852793
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_005629.4(SLC6A8):c.1601T>C (p.Ile534Thr) rs797045971
NM_007103.4(NDUFV1):c.491A>G (p.Asn164Ser)
NM_015107.3(PHF8):c.-60C>T rs1557116325
NM_018684.4(ZC4H2):c.54-1G>A rs1569201245
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327
Single allele

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