ClinVar Miner

List of variants studied for Alstrom syndrome by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 3
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NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.8439A>G (p.Glu2813=) rs886038617

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