ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000349.3(STAR):c.815G>A (p.Arg272His) rs540090187 0.00010
NM_000349.3(STAR):c.661G>A (p.Gly221Ser) rs139081695 0.00004
NM_000349.3(STAR):c.824T>C (p.Leu275Pro) rs762245736 0.00003
NM_000349.3(STAR):c.559G>A (p.Val187Met) rs104894089 0.00001
NM_000349.3(STAR):c.779T>C (p.Leu260Pro) rs551783234 0.00001
NM_000349.3(STAR):c.178+1G>C rs1554503011
NM_000349.3(STAR):c.811del (p.Leu271fs) rs1350908961

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