ClinVar Miner

List of variants in gene ALMS1 reported by Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.9786G>A (p.Gln3262=) rs757139660 0.00001
NM_001378454.1(ALMS1):c.10427del (p.Val3476fs) rs1674946144
NM_001378454.1(ALMS1):c.1671del (p.Pro558fs) rs786205633
NM_001378454.1(ALMS1):c.2726C>G (p.Ser909Ter) rs746640196
NM_001378454.1(ALMS1):c.3136C>T (p.Gln1046Ter) rs1671885850
NM_001378454.1(ALMS1):c.764G>A (p.Arg255Lys) rs786205526

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