ClinVar Miner

List of variants in gene SCO1 reported as likely pathogenic by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004589.4(SCO1):c.261del (p.Ser88fs) rs770131276
NM_004589.4(SCO1):c.364_364+1del rs587776629
NM_004589.4(SCO1):c.521C>T (p.Pro174Leu) rs104894630

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