ClinVar Miner

List of variants in gene ALMS1 reported as uncertain significance by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Gene type:
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Total variants: 21
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HGVS dbSNP
NC_000002.12:g.73451335C>G
NC_000002.12:g.73453050G>A
NC_000002.12:g.73490857T>A
NM_015120.4(ALMS1):c.10867T>C
NM_015120.4(ALMS1):c.10895G>A (p.Arg3632His) rs142558799
NM_015120.4(ALMS1):c.1093G>A
NM_015120.4(ALMS1):c.11587T>C (p.Ser3863Pro) rs202227966
NM_015120.4(ALMS1):c.11663T>C (p.Ile3888Thr) rs45630562
NM_015120.4(ALMS1):c.2896T>C (p.Tyr966His) rs201180147
NM_015120.4(ALMS1):c.3884G>C (p.Ser1295Thr) rs373835067
NM_015120.4(ALMS1):c.4108A>G
NM_015120.4(ALMS1):c.4391C>T
NM_015120.4(ALMS1):c.5279A>G (p.Tyr1760Cys) rs200293447
NM_015120.4(ALMS1):c.5884G>A
NM_015120.4(ALMS1):c.5921C>A (p.Pro1974Gln) rs199615641
NM_015120.4(ALMS1):c.6074A>C (p.Lys2025Thr) rs369339997
NM_015120.4(ALMS1):c.6857G>T (p.Arg2286Leu) rs6546839
NM_015120.4(ALMS1):c.6973A>G
NM_015120.4(ALMS1):c.7214C>T
NM_015120.4(ALMS1):c.8840A>G (p.His2947Arg) rs574785830
NM_015120.4(ALMS1):c.9868T>C

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