ClinVar Miner

List of variants studied for adrenocortical insufficiency by Natera, Inc.

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_000102.4(CYP17A1):c.195G>T (p.Ser65=) rs6163 0.40112
NM_000102.4(CYP17A1):c.138C>T (p.His46=) rs6162 0.40089
NM_000198.4(HSD3B2):c.777G>A (p.Thr259=) rs33926546 0.01994
NM_000349.3(STAR):c.153G>A (p.Gln51=) rs72552290 0.01453
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser) rs35887327 0.01309
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=) rs6207 0.00387
NM_000198.4(HSD3B2):c.220G>A (p.Asp74Asn) rs4986954 0.00385
NM_000349.3(STAR):c.433G>A (p.Gly145Arg) rs80231229 0.00250
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.141G>A (p.Thr47=) rs147318238 0.00173
NM_000349.3(STAR):c.504C>T (p.His168=) rs147138315 0.00134
NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys) rs61754263 0.00116
NM_000349.3(STAR):c.466-5G>A rs375678713 0.00111
NM_000349.3(STAR):c.481G>A (p.Gly161Arg) rs188044385 0.00103
NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val) rs35486059 0.00087
NM_000198.4(HSD3B2):c.621C>T (p.Asn207=) rs143758913 0.00087
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=) rs34412477 0.00047
NM_000349.3(STAR):c.306+10G>A rs200480072 0.00043
NM_000198.4(HSD3B2):c.1062G>A (p.Glu354=) rs114064941 0.00041
NM_000198.4(HSD3B2):c.613C>T (p.Leu205=) rs138811555 0.00036
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=) rs150892928 0.00035
NM_000102.4(CYP17A1):c.1458C>T (p.Ile486=) rs147557447 0.00023
NM_000198.4(HSD3B2):c.124T>C (p.Leu42=) rs370732845 0.00016
NM_000198.4(HSD3B2):c.631C>T (p.Leu211=) rs143038843 0.00016
NM_000198.4(HSD3B2):c.308-8G>A rs371712928 0.00013
NM_000198.4(HSD3B2):c.423C>T (p.His141=) rs751470493 0.00011
NM_000198.4(HSD3B2):c.681C>T (p.Asn227=) rs587675471 0.00011
NM_000102.4(CYP17A1):c.108G>A (p.Leu36=) rs112892739 0.00009
NM_000102.4(CYP17A1):c.32C>T (p.Thr11Ile) rs72559703 0.00009
NM_000349.3(STAR):c.108C>T (p.Asn36=) rs373945555 0.00009
NM_000102.4(CYP17A1):c.1194G>A (p.Ala398=) rs201222065 0.00008
NM_000198.4(HSD3B2):c.549G>A (p.Ala183=) rs33932258 0.00008
NM_000198.4(HSD3B2):c.628A>G (p.Ile210Val) rs587741317 0.00007
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=) rs755461071 0.00007
NM_000349.3(STAR):c.64+1G>T rs765968701 0.00007
NM_000102.4(CYP17A1):c.1269C>G (p.Thr423=) rs554217514 0.00006
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp) rs104894138 0.00006
NM_000198.4(HSD3B2):c.714T>C (p.Ala238=) rs745608432 0.00006
NM_000102.4(CYP17A1):c.628A>G (p.Ser210Gly) rs142435666 0.00005
NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser) rs376207606 0.00005
NM_000198.4(HSD3B2):c.143-7C>T rs200483303 0.00005
NM_000198.4(HSD3B2):c.244G>A (p.Ala82Thr) rs757033996 0.00005
NM_000198.4(HSD3B2):c.246C>T (p.Ala82=) rs587717286 0.00005
NM_000198.4(HSD3B2):c.745C>T (p.Arg249Ter) rs80358217 0.00005
NM_000349.3(STAR):c.772C>T (p.Gln258Ter) rs104894085 0.00005
NM_000102.4(CYP17A1):c.1227G>A (p.Pro409=) rs779167465 0.00004
NM_000102.4(CYP17A1):c.522G>A (p.Ala174=) rs369081864 0.00004
NM_000349.3(STAR):c.661G>A (p.Gly221Ser) rs139081695 0.00004
NM_000102.4(CYP17A1):c.374G>A (p.Arg125Gln) rs104894154 0.00003
NM_000102.4(CYP17A1):c.702C>T (p.Ser234=) rs146311005 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_000102.4(CYP17A1):c.297+2T>C rs764723654 0.00002
NM_000102.4(CYP17A1):c.483C>T (p.Asn161=) rs767962487 0.00002
NM_000198.4(HSD3B2):c.15C>A (p.Cys5Ter) rs766474996 0.00002
NM_000349.3(STAR):c.745-1G>C rs374297649 0.00002
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His) rs61754278 0.00001
NM_000102.4(CYP17A1):c.1084C>T (p.Arg362Cys) rs104894142 0.00001
NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His) rs752811843 0.00001
NM_000102.4(CYP17A1):c.1118A>T (p.His373Leu) rs760695410 0.00001
NM_000102.4(CYP17A1):c.235C>G (p.His79Asp) rs370973897 0.00001
NM_000102.4(CYP17A1):c.276C>T (p.Asp92=) rs535575638 0.00001
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro) rs104894135 0.00001
NM_000198.4(HSD3B2):c.1003C>T (p.Arg335Ter) rs148200568 0.00001
NM_000198.4(HSD3B2):c.308-9C>T rs375047799 0.00001
NM_000198.4(HSD3B2):c.411C>A (p.Ile137=) rs374909270 0.00001
NM_000198.4(HSD3B2):c.424G>A (p.Glu142Lys) rs80358219 0.00001
NM_000198.4(HSD3B2):c.672T>C (p.Tyr224=) rs116728039 0.00001
NM_000198.4(HSD3B2):c.746G>A (p.Arg249Gln) rs751984843 0.00001
NM_000198.4(HSD3B2):c.924C>T (p.Tyr308=) rs587775183 0.00001
NM_000349.3(STAR):c.229C>T (p.Gln77Ter) rs781281145 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_000102.4(CYP17A1):c.102G>T (p.Leu34=) rs752346898
NM_000102.4(CYP17A1):c.1072C>T (p.Arg358Ter) rs2134082367
NM_000102.4(CYP17A1):c.1117C>G (p.His373Asp) rs1423560123
NM_000102.4(CYP17A1):c.1117C>T (p.His373Tyr) rs1423560123
NM_000102.4(CYP17A1):c.1283C>T (p.Pro428Leu) rs104894145
NM_000102.4(CYP17A1):c.1414C>A (p.Gln472Lys) rs746813353
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del) rs756135168
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del) rs121434319
NM_000102.4(CYP17A1):c.186C>T (p.Pro62=) rs1844174531
NM_000102.4(CYP17A1):c.1A>G (p.Met1Val) rs1590204913
NM_000102.4(CYP17A1):c.225T>G (p.Ile75Met) rs931528592
NM_000102.4(CYP17A1):c.235C>A (p.His79Asn) rs370973897
NM_000102.4(CYP17A1):c.384G>A (p.Ala128=) rs1844146929
NM_000102.4(CYP17A1):c.715C>T (p.Arg239Ter) rs104894136
NM_000198.4(HSD3B2):c.*9T>A rs1651924447
NM_000198.4(HSD3B2):c.1000C>T (p.Gln334Ter) rs905880501
NM_000198.4(HSD3B2):c.1014G>A (p.Ala338=) rs116342586
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=) rs781770416
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=) rs114527791
NM_000198.4(HSD3B2):c.512G>A (p.Trp171Ter) rs80358216
NM_000198.4(HSD3B2):c.51G>A (p.Arg17=) rs757957605
NM_000198.4(HSD3B2):c.558dup (p.Thr187fs) rs770815049
NM_000198.4(HSD3B2):c.867G>C (p.Leu289=) rs1292390178
NM_000198.4(HSD3B2):c.931C>T (p.Gln311Ter) rs781213951
NM_000349.3(STAR):c.120G>A (p.Leu40=) rs138786388
NM_000349.3(STAR):c.161G>T (p.Arg54Leu) rs200245763
NM_000349.3(STAR):c.201_202del (p.Tyr68fs) rs1563268652
NM_000349.3(STAR):c.307-1G>A rs2130614519
NM_000349.3(STAR):c.544C>T (p.Arg182Cys) rs369232492
NM_000349.3(STAR):c.545G>A (p.Arg182His) rs104894086

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