ClinVar Miner

List of variants studied for Squalene synthase deficiency

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_004462.5(FDFT1):c.631T>C (p.Leu211=) rs904011 0.97596
NM_004462.5(FDFT1):c.972G>C (p.Leu324=) rs9205 0.20851
NM_004462.5(FDFT1):c.134A>G (p.Lys45Arg) rs4731 0.06240
NC_000008.10:g.11667760_11787743del
NC_000008.10:g.11667760_11787743del119984
NC_000008.11:g.11802586_11802601del rs1563290033
NM_004462.5(FDFT1):c.100-101G>A
NM_004462.5(FDFT1):c.100-84TCCCAC[11] rs71711801
NM_004462.5(FDFT1):c.1033-25T>C rs10903343
NM_004462.5(FDFT1):c.19C>A (p.Leu7Ile) rs574662343
NM_004462.5(FDFT1):c.670C>G (p.Gln224Glu) rs769523244
NM_004462.5(FDFT1):c.879+9G>C rs1293313
NM_004462.5(FDFT1):c.880-24_880-23delinsAG rs1563339323
NM_004462.5(FDFT1):c.899T>A (p.Leu300Ter) rs1810791017

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