ClinVar Miner

List of variants reported as pathogenic for Crisponi syndrome by National Research Council,Institute of Genetics and Biomedical Research

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_001031710.3(KLHL7):c.1022del (p.Leu341fs) rs879255557
NM_001031710.3(KLHL7):c.1115G>A (p.Arg372Gln) rs879255558
NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys) rs780705654
NM_001031710.3(KLHL7):c.1261T>A (p.Cys421Ser) rs879255556

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