ClinVar Miner

List of variants reported as pathogenic for Alstrom syndrome by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 4
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HGVS dbSNP
NM_001378454.1(ALMS1):c.11784G>A (p.Trp3928Ter) rs1318520999
NM_001378454.1(ALMS1):c.6408_6409insCCTA (p.Ala2137fs) rs1553404233
NM_001378454.1(ALMS1):c.7087del (p.Leu2363fs) rs1553404395
NM_001378454.1(ALMS1):c.7674+1G>A rs1417025395

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