ClinVar Miner

List of variants in gene ALMS1 reported as likely pathogenic by Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_015120.4(ALMS1):c.11873-2A>T rs786205527
NM_015120.4(ALMS1):c.1674del (p.Pro559fs) rs786205633
NM_015120.4(ALMS1):c.2729C>G (p.Ser910Ter) rs746640196
NM_015120.4(ALMS1):c.767G>A (p.Arg256Lys) rs786205526
NM_015120.4(ALMS1):c.9789G>A (p.Gln3263=) rs757139660

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