ClinVar Miner

List of variants in gene ALMS1 reported as pathogenic by Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University

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Gene type:
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Total variants: 5
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NM_001378454.1(ALMS1):c.1897C>T (p.Gln633Ter) rs398122995
NM_015120.4(ALMS1):c.11116_11134del (p.Arg3706fs) rs398122992
NM_015120.4(ALMS1):c.1794_1801dup (p.Lys601delinsArgLeuTer) rs398122991
NM_015120.4(ALMS1):c.4292_4293CA[2] (p.His1432fs) rs398122993
NM_015120.4(ALMS1):c.5926del (p.Glu1976fs) rs398122994

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