ClinVar Miner

List of variants studied for Alstrom syndrome by Phosphorus, Inc.

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Total variants: 5
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NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe) rs192499639
NM_001378454.1(ALMS1):c.5143A>T (p.Arg1715Ter) rs773513360
NM_001378454.1(ALMS1):c.8524C>G (p.His2842Asp) rs1553409736
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877

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