ClinVar Miner

List of variants studied for Alkuraya-Kucinskas syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001384125.1(BLTP1):c.12617-2A>G
NM_001384125.1(BLTP1):c.3925C>T (p.Arg1309Ter)
NM_001384125.1(BLTP1):c.8740C>T (p.Arg2914Ter)

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