ClinVar Miner

List of variants reported for Congenital lipoid adrenal hyperplasia due to STAR deficency by Fulgent Genetics, Fulgent Genetics

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Total variants: 26
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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.759G>A (p.Lys253=) rs146000965 0.00009
NM_000349.3(STAR):c.64+1G>T rs765968701 0.00007
NM_000349.3(STAR):c.738C>T (p.Asp246=) rs758031518 0.00006
NM_000349.3(STAR):c.402T>C (p.Tyr134=) rs144881901 0.00005
NM_000349.3(STAR):c.563G>A (p.Arg188His) rs61736315 0.00005
NM_000349.3(STAR):c.772C>T (p.Gln258Ter) rs104894085 0.00005
NM_000349.3(STAR):c.488A>T (p.Asp163Val) rs201579617 0.00004
NM_000349.3(STAR):c.64+7G>C rs769781083 0.00004
NM_000349.3(STAR):c.661G>A (p.Gly221Ser) rs139081695 0.00004
NM_000349.3(STAR):c.562C>T (p.Arg188Cys) rs104894090 0.00003
NM_000349.3(STAR):c.824T>C (p.Leu275Pro) rs762245736 0.00003
NM_000349.3(STAR):c.731G>A (p.Ser244Asn) rs1331812230 0.00002
NM_000349.3(STAR):c.229C>T (p.Gln77Ter) rs781281145 0.00001
NM_000349.3(STAR):c.559G>A (p.Val187Met) rs104894089 0.00001
NM_000349.3(STAR):c.577C>T (p.Arg193Ter) rs387907235 0.00001
NM_000349.3(STAR):c.64+9T>C rs761733155 0.00001
NM_000349.3(STAR):c.779T>C (p.Leu260Pro) rs551783234 0.00001
NM_000349.3(STAR):c.157C>G (p.Arg53Gly) rs550388651
NM_000349.3(STAR):c.158G>C (p.Arg53Pro) rs529036391
NM_000349.3(STAR):c.158G>T (p.Arg53Leu) rs529036391
NM_000349.3(STAR):c.178+1G>C rs1554503011
NM_000349.3(STAR):c.201_202del (p.Tyr68fs) rs1563268652
NM_000349.3(STAR):c.544C>T (p.Arg182Cys) rs369232492
NM_000349.3(STAR):c.720G>C (p.Thr240=) rs768179486
NM_000349.3(STAR):c.811del (p.Leu271fs) rs1350908961

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