ClinVar Miner

List of variants in gene STAR studied for adrenogenital syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_000349.3(STAR):c.465+20A>G rs2720050 0.97715
NM_000349.3(STAR):c.*1524A>G rs3990403 0.70953
NM_000349.3(STAR):c.*456C>T rs35045158 0.02530
NM_000349.3(STAR):c.*987A>G rs28361934 0.01708
NM_000349.3(STAR):c.153G>A (p.Gln51=) rs72552290 0.01453
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.*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_000349.3(STAR):c.815G>A (p.Arg272His) rs540090187 0.00010
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.759G>A (p.Lys253=) rs146000965 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.64+1G>T rs765968701 0.00007
NM_000349.3(STAR):c.*93C>T rs776003335 0.00006
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.*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.64+7G>C rs769781083 0.00004
NM_000349.3(STAR):c.661G>A (p.Gly221Ser) rs139081695 0.00004
NM_000349.3(STAR):c.312T>C (p.Asn104=) rs200934871 0.00003
NM_000349.3(STAR):c.562C>T (p.Arg188Cys) rs104894090 0.00003
NM_000349.3(STAR):c.653C>T (p.Ala218Val) rs137852690 0.00003
NM_000349.3(STAR):c.824T>C (p.Leu275Pro) rs762245736 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_000349.3(STAR):c.745-1G>C rs374297649 0.00002
NM_000349.3(STAR):c.814C>T (p.Arg272Cys) rs751759820 0.00002
NM_000349.3(STAR):c.*550A>C rs1236012022 0.00001
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.792G>A (p.Gln264=) rs1358166887 0.00001
NM_000349.3(STAR):c.*1384del rs886062898
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.*948del rs886062900
NM_000349.3(STAR):c.*965_*967dup rs11326306
NM_000349.3(STAR):c.*967del rs11326306
NM_000349.3(STAR):c.120G>A (p.Leu40=) rs138786388
NM_000349.3(STAR):c.125dup (p.Thr44fs) rs750549499
NM_000349.3(STAR):c.135del (p.Ser46fs) rs193922393
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.158G>T (p.Arg53Leu) rs529036391
NM_000349.3(STAR):c.161G>T (p.Arg54Leu) rs200245763
NM_000349.3(STAR):c.178+1G>C rs1554503011
NM_000349.3(STAR):c.178+2dup rs1563268785
NM_000349.3(STAR):c.179-2A>G rs1554502986
NM_000349.3(STAR):c.201_202del (p.Tyr68fs) rs1563268652
NM_000349.3(STAR):c.203del (p.Tyr68fs)
NM_000349.3(STAR):c.217_218insCTTCTGCA (p.Leu73fs)
NM_000349.3(STAR):c.229del (p.Gln77fs)
NM_000349.3(STAR):c.271_272del (p.Ser91fs)
NM_000349.3(STAR):c.289AAG[1] (p.Lys98del) rs146872295
NM_000349.3(STAR):c.298_299del (p.Gln101fs) rs765904696
NM_000349.3(STAR):c.306+1G>A
NM_000349.3(STAR):c.307-1G>A rs2130614519
NM_000349.3(STAR):c.391_392insT (p.Glu131fs)
NM_000349.3(STAR):c.392_393insTG (p.Glu131fs)
NM_000349.3(STAR):c.436G>T (p.Glu146Ter)
NM_000349.3(STAR):c.466-11T>A rs1053284504
NM_000349.3(STAR):c.475A>T (p.Lys159Ter)
NM_000349.3(STAR):c.484A>C (p.Lys162Gln) rs886062905
NM_000349.3(STAR):c.503_504insTCGT (p.Glu169fs)
NM_000349.3(STAR):c.503dup (p.His168fs)
NM_000349.3(STAR):c.505G>A (p.Glu169Lys) rs747169620
NM_000349.3(STAR):c.544C>T (p.Arg182Cys) rs369232492
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.574C>T (p.Arg192Cys) rs752311616
NM_000349.3(STAR):c.611_612del (p.Thr204fs)
NM_000349.3(STAR):c.629_630del (p.Pro210fs) rs771895449
NM_000349.3(STAR):c.64+2T>C rs1298369560
NM_000349.3(STAR):c.650+1G>A rs1563267767
NM_000349.3(STAR):c.650G>C (p.Arg217Thr) rs137852689
NM_000349.3(STAR):c.651-1G>C rs749626865
NM_000349.3(STAR):c.674T>C (p.Met225Thr)
NM_000349.3(STAR):c.677del (p.Val226fs) rs1554502732
NM_000349.3(STAR):c.695del (p.Gly232fs) rs757367795
NM_000349.3(STAR):c.714del (p.Lys238fs) rs1417088430
NM_000349.3(STAR):c.716_732del (p.Leu239fs) rs1554502725
NM_000349.3(STAR):c.720G>C (p.Thr240=) rs768179486
NM_000349.3(STAR):c.727C>T (p.Leu243Phe)
NM_000349.3(STAR):c.745-1_757del rs1554502668
NM_000349.3(STAR):c.749G>A (p.Trp250Ter) rs104894087
NM_000349.3(STAR):c.801dup (p.Ala268fs) rs1554502663
NM_000349.3(STAR):c.811del (p.Leu271fs) rs1350908961
NM_000349.3(STAR):c.814C>G (p.Arg272Gly)
NM_000349.3(STAR):c.82_83insA (p.Val28fs)
NM_000349.3(STAR):c.97del (p.Gln33fs)

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