ClinVar Miner

List of variants reported as likely pathogenic for SQUALENE SYNTHASE DEFICIENCY

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Total variants: 3
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HGVS dbSNP
NC_000008.10:g.11667760_11787743del119984
NM_001287742.1(FDFT1):c.-75+131_-75+146del rs1563290033
NM_004462.5(FDFT1):c.880-24_880-23delinsAG rs1563339323

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