ClinVar Miner

List of variants reported as pathogenic for Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome by Genetics Division,Universidade Federal de Sao Paulo

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NC_000023.11:g.110250890_110665082del
NM_015365.3(AMMECR1):c.429T>A (p.Tyr143Ter) rs765498367
NM_015365.3(AMMECR1):c.502C>T (p.Arg168Ter) rs1057519338

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