ClinVar Miner

List of variants in gene ALMS1 reported as pathogenic by Equipe Genetique des Anomalies du Developpement,Université de Bourgogne

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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_015120.4(ALMS1):c.11787G>A (p.Trp3929Ter) rs1318520999
NM_015120.4(ALMS1):c.6411_6412insCCTA (p.Ala2138fs) rs1553404233
NM_015120.4(ALMS1):c.7090del (p.Leu2364fs) rs1553404395
NM_015120.4(ALMS1):c.7677+1G>A rs1417025395

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