ClinVar Miner

List of variants in gene ALMS1 reported as uncertain significance by Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics

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Total variants: 8
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HGVS dbSNP
NM_015120.4(ALMS1):c.11356A>G (p.Ile3786Val) rs201819880
NM_015120.4(ALMS1):c.11670A>G (p.Ala3890=) rs767848384
NM_015120.4(ALMS1):c.2685_2687delTGA (p.Asp896del) rs763288832
NM_015120.4(ALMS1):c.7510G>T (p.Ala2504Ser) rs202060439
NM_015120.4(ALMS1):c.824G>A (p.Ser275Asn) rs767513098
NM_015120.4(ALMS1):c.8414G>A (p.Arg2805His) rs201252809
NM_015120.4(ALMS1):c.9032T>C (p.Ile3011Thr) rs780894681
NM_015120.4(ALMS1):c.9619A>G (p.Thr3207Ala) rs878853092

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