ClinVar Miner

List of variants reported as pathogenic for Alstrom syndrome by Molecular Genetics Laboratory, Institute for Ophthalmic Research

Included ClinVar conditions (1):

Alstrom syndrome

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.10146dup (p.Ser3383fs)	rs1553416872
NM_001378454.1(ALMS1):c.7132C>T (p.Leu2378Phe)	rs768751472
NM_001378454.1(ALMS1):c.7786C>T (p.Gln2596Ter)	rs1672934629

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