ClinVar Miner

List of variants in gene ELN reported as uncertain significance for Cutis laxa, autosomal dominant

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Total variants: 8
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HGVS dbSNP
NM_000501.4(ELN):c.*1062dup rs574934142
NM_000501.4(ELN):c.*1145dup rs886062436
NM_000501.4(ELN):c.1096+12TG[18] rs10579871
NM_000501.4(ELN):c.1096+12TG[20] rs10579871
NM_000501.4(ELN):c.1096+12TG[21] rs10579871
NM_000501.4(ELN):c.1096+12TG[22] rs10579871
NM_000501.4(ELN):c.930C>T (p.Ala310=) rs147367888
NM_001278918.1(ELN):c.-70G>C rs537200597

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