ClinVar Miner

List of variants reported as uncertain significance for congenital lipoid adrenal hyperplasia due to STAR deficency

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000349.3(STAR):c.*395G>A rs115807877 0.00320
NM_000349.3(STAR):c.*1122T>A rs72556520 0.00254
NM_000349.3(STAR):c.433G>A (p.Gly145Arg) rs80231229 0.00250
NM_000349.3(STAR):c.*981A>G rs188232971 0.00228
NM_000349.3(STAR):c.*1472C>T rs7833285 0.00203
NM_000349.3(STAR):c.361C>T (p.Arg121Trp) rs34908868 0.00193
NM_000349.3(STAR):c.687G>A (p.Pro229=) rs35852516 0.00180
NM_000349.3(STAR):c.*116T>G rs35462433 0.00179
NM_000349.3(STAR):c.141G>A (p.Thr47=) rs147318238 0.00173
NM_000349.3(STAR):c.*88G>C rs112828857 0.00169
NM_000349.3(STAR):c.504C>T (p.His168=) rs147138315 0.00134
NM_000349.3(STAR):c.650+13G>T rs377756089 0.00123
NM_000349.3(STAR):c.*230A>G rs34575008 0.00120
NM_000349.3(STAR):c.466-5G>A rs375678713 0.00111
NM_000349.3(STAR):c.481G>A (p.Gly161Arg) rs188044385 0.00103
NM_000349.3(STAR):c.*1557A>G rs774615544 0.00074
NM_000349.3(STAR):c.*880C>T rs548810270 0.00067
NM_000349.3(STAR):c.179-14G>A rs117578796 0.00057
NM_000349.3(STAR):c.*818G>A rs558498679 0.00054
NM_000349.3(STAR):c.306+10G>A rs200480072 0.00043
NM_000349.3(STAR):c.*930C>T rs915400542 0.00033
NM_000349.3(STAR):c.-70G>T rs370257148 0.00031
NM_000349.3(STAR):c.*1543C>A rs748527738 0.00029
NM_000349.3(STAR):c.*187T>C rs779430429 0.00029
NM_000349.3(STAR):c.*1513C>G rs963043269 0.00024
NM_000349.3(STAR):c.*698C>A rs558290486 0.00018
NM_000349.3(STAR):c.*699C>G rs540152389 0.00018
NM_000349.3(STAR):c.178+7G>A rs376633284 0.00015
NM_000349.2(STAR):c.-255G>T rs567801443 0.00011
NM_000349.3(STAR):c.*913C>T rs551135472 0.00009
NM_000349.3(STAR):c.108C>T (p.Asn36=) rs373945555 0.00009
NM_000349.3(STAR):c.*817C>T rs886062901 0.00008
NM_000349.3(STAR):c.*897C>T rs1216495200 0.00007
NM_000349.3(STAR):c.*93C>T rs776003335 0.00006
NM_000349.3(STAR):c.563G>A (p.Arg188His) rs61736315 0.00005
NM_000349.3(STAR):c.*1473G>A rs879150926 0.00004
NM_000349.3(STAR):c.*688C>T rs1374700700 0.00004
NM_000349.3(STAR):c.178+9T>C rs777624416 0.00004
NM_000349.3(STAR):c.488A>T (p.Asp163Val) rs201579617 0.00004
NM_000349.3(STAR):c.312T>C (p.Asn104=) rs200934871 0.00003
NM_000349.3(STAR):c.411C>T (p.Leu137=) rs368559257 0.00002
NM_000349.3(STAR):c.731G>A (p.Ser244Asn) rs1331812230 0.00002
NM_000349.2(STAR):c.-152G>A rs1196346446 0.00001
NM_000349.3(STAR):c.*550A>C rs1236012022 0.00001
NM_000349.3(STAR):c.792G>A (p.Gln264=) rs1358166887 0.00001
NM_000349.2(STAR):c.-249C>A rs886062906
NM_000349.3(STAR):c.*348C>T rs886062904
NM_000349.3(STAR):c.*556A>G rs886062903
NM_000349.3(STAR):c.*768G>A rs1802503995
NM_000349.3(STAR):c.*796A>G rs886062902
NM_000349.3(STAR):c.-16C>T rs779983468
NM_000349.3(STAR):c.120G>A (p.Leu40=) rs138786388
NM_000349.3(STAR):c.149_157del (p.Asn50_Val52del) rs1554503018
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.161G>T (p.Arg54Leu) rs200245763
NM_000349.3(STAR):c.289AAG[1] (p.Lys98del) rs146872295
NM_000349.3(STAR):c.466-11T>A rs1053284504
NM_000349.3(STAR):c.484A>C (p.Lys162Gln) rs886062905
NM_000349.3(STAR):c.574C>T (p.Arg192Cys) rs752311616
NM_000349.3(STAR):c.727C>T (p.Leu243Phe)

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