ClinVar Miner

List of variants studied for Alstrom syndrome by Pars Genome Lab

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Total variants: 3
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HGVS dbSNP
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly) rs184779459
NM_001378454.1(ALMS1):c.11748G>A (p.Glu3916=) rs373364340
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=) rs201446579

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