ClinVar Miner

List of variants in gene NDUFS4 studied for X-linked syndromic intellectual disability

Included ClinVar conditions (168):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_002495.4(NDUFS4):c.*46G>A rs567
NM_002495.4(NDUFS4):c.*79A>G rs886060699
NM_002495.4(NDUFS4):c.-22C>A rs144843461
NM_002495.4(NDUFS4):c.102G>A (p.Ser34=) rs138941073
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) rs2279516
NM_002495.4(NDUFS4):c.13T>C (p.Ser5Pro) rs149323691
NM_002495.4(NDUFS4):c.178-4G>C rs200384843
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer) rs121908985
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) rs31303
NM_002495.4(NDUFS4):c.316C>T (p.Arg106Ter) rs104893898
NM_002495.4(NDUFS4):c.351-11_351-8del rs375549253
NM_002495.4(NDUFS4):c.355G>C (p.Asp119His)
NM_002495.4(NDUFS4):c.424+19dup rs140172554
NM_002495.4(NDUFS4):c.44G>A (p.Trp15Ter) rs104893899
NM_002495.4(NDUFS4):c.462del (p.Lys154fs) rs587776949
NM_002495.4(NDUFS4):c.466_470dup (p.Lys158fs) rs1445075330
NM_002495.4(NDUFS4):c.512_514dup (p.Val172_Ser173insGly) rs1425486695
NM_002495.4(NDUFS4):c.99-1G>A rs376281345

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