ClinVar Miner

List of variants in gene ALMS1 reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs) rs797045228 0.00002
NM_001378454.1(ALMS1):c.11047G>T (p.Glu3683Ter) rs759688621
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.5690C>G (p.Ser1897Ter) rs757128530
NM_001378454.1(ALMS1):c.7786C>T (p.Gln2596Ter) rs1672934629

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