ClinVar Miner

List of variants reported as uncertain significance for Alstrom syndrome by Johns Hopkins Genomics, Johns Hopkins University

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser)	rs541576664	0.00004
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp)	rs531859344	0.00004

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