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):

Cold-induced sweating syndrome 1

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP
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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