ClinVar Miner

List of variants in gene STAR reported as pathogenic for adrenal gland disease

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000349.3(STAR):c.125dup (p.Thr44fs) rs750549499
NM_000349.3(STAR):c.178+2dup rs1563268785
NM_000349.3(STAR):c.197_198CT[2] (p.Tyr68fs) rs1563268652
NM_000349.3(STAR):c.466-11T>A rs1053284504
NM_000349.3(STAR):c.545G>A (p.Arg182His) rs104894086
NM_000349.3(STAR):c.545G>T (p.Arg182Leu) rs104894086
NM_000349.3(STAR):c.559G>A (p.Val187Met) rs104894089
NM_000349.3(STAR):c.562C>T (p.Arg188Cys) rs104894090
NM_000349.3(STAR):c.577C>T (p.Arg193Ter) rs387907235
NM_000349.3(STAR):c.64+1G>T rs765968701
NM_000349.3(STAR):c.650G>C (p.Arg217Thr) rs137852689
NM_000349.3(STAR):c.653C>T (p.Ala218Val) rs137852690
NM_000349.3(STAR):c.749G>A (p.Trp250Ter) rs104894087
NM_000349.3(STAR):c.772C>T (p.Gln258Ter) rs104894085
STAR, 1-BP DEL, 261T

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