ClinVar Miner

List of variants in gene ALMS1 reported by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter) rs776563011 0.00001
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs) rs780252175
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter) rs780843883
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs) rs1553403656
NM_001378454.1(ALMS1):c.3757T>C (p.Leu1253=) rs1671904168
NM_001378454.1(ALMS1):c.4149dup (p.His1384fs) rs1671915447
NM_001378454.1(ALMS1):c.5280del (p.His1761fs) rs2103785835

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