ClinVar Miner

List of variants studied for Alstrom syndrome by Ocular Genomics Institute, Massachusetts Eye and Ear

Included ClinVar conditions (1):
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.12367T>G (p.Tyr4123Asp) rs963466695 0.00001
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter) rs989080548 0.00001
NM_001378454.1(ALMS1):c.11638_11639del (p.Val3880fs) rs2104189157
NM_001378454.1(ALMS1):c.5684C>G (p.Ser1895Cys) rs2103787360

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