ClinVar Miner

List of variants reported as likely pathogenic for Squalene synthase deficiency by Kids Research, The Children's Hospital at Westmead

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NC_000008.10:g.11667760_11787743del119984
NC_000008.11:g.11802586_11802601del	rs1563290033
NM_004462.5(FDFT1):c.880-24_880-23delinsAG	rs1563339323

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