ClinVar Miner

List of variants in gene IKBKG studied for congenital vitreoretinal dysplasia

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
IKBKG, 10-BP INS, NT127
IKBKG, EX4-10DEL
NM_003639.4(IKBKG):c.1110dup (p.Ala371fs) rs1569556615
NM_003639.4(IKBKG):c.1219A>G (p.Met407Val) rs137853322
NM_003639.4(IKBKG):c.1259A>G (p.Ter420Trp) rs137853321
NM_003639.4(IKBKG):c.184C>T (p.Arg62Ter) rs137853323

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