ClinVar Miner

List of variants in gene combination CYP19A1, MIR4713HG, PIRC66 reported as uncertain significance for Aromatase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000103.4(CYP19A1):c.*1889A>T rs762427390 0.00067
NM_000103.4(CYP19A1):c.*2257A>G rs540900346 0.00067
NM_000103.4(CYP19A1):c.49G>A (p.Val17Met) rs200111039 0.00030
NM_000103.4(CYP19A1):c.*1069C>T rs527275486 0.00028
NM_000103.4(CYP19A1):c.*858C>T rs555261840 0.00026
NM_000103.4(CYP19A1):c.*125T>C rs781742620 0.00024
NM_000103.4(CYP19A1):c.*2536C>T rs140417660 0.00023
NM_000103.4(CYP19A1):c.*2155T>C rs865821138 0.00019
NM_000103.4(CYP19A1):c.*2274A>G rs886051270 0.00019
NM_000103.4(CYP19A1):c.953T>C (p.Met318Thr) rs143839949 0.00017
NM_000103.4(CYP19A1):c.721T>A (p.Tyr241Asn) rs143562020 0.00016
NM_000103.4(CYP19A1):c.*1608C>T rs781782351 0.00013
NM_000103.4(CYP19A1):c.465C>T (p.Pro155=) rs146495071 0.00012
NM_000103.4(CYP19A1):c.467G>A (p.Gly156Asp) rs142652579 0.00009
NM_000103.4(CYP19A1):c.*166T>A rs181721810 0.00006
NM_000103.4(CYP19A1):c.*9G>T rs373757519 0.00006
NM_000103.4(CYP19A1):c.1353C>T (p.Leu451=) rs774940170 0.00006
NM_000103.4(CYP19A1):c.336C>T (p.Tyr112=) rs139905959 0.00006
NM_000103.4(CYP19A1):c.*747G>A rs866111735 0.00005
NM_000103.4(CYP19A1):c.*2519T>C rs1234949259 0.00004
NM_000103.4(CYP19A1):c.1387T>C (p.Leu463=) rs377327265 0.00004
NM_000103.4(CYP19A1):c.1488C>T (p.Asn496=) rs374079882 0.00004
NM_000103.4(CYP19A1):c.99C>A (p.Gly33=) rs779177368 0.00004
NM_000103.4(CYP19A1):c.*1019C>T rs886051274 0.00003
NM_000103.4(CYP19A1):c.*2032G>A rs886051272 0.00003
NM_000103.4(CYP19A1):c.242A>G (p.Tyr81Cys) rs199845027 0.00003
NM_000103.4(CYP19A1):c.629-10T>C rs781489846 0.00003
NM_000103.4(CYP19A1):c.*2086G>A rs989880661 0.00002
NM_000103.4(CYP19A1):c.*2497T>C rs752484173 0.00002
NM_000103.4(CYP19A1):c.1113C>T (p.Asp371=) rs774007712 0.00002
NM_000103.4(CYP19A1):c.1221C>T (p.Phe407=) rs764767709 0.00002
NM_000103.4(CYP19A1):c.1263+8C>A rs757404619 0.00002
NM_000103.4(CYP19A1):c.237G>A (p.Arg79=) rs749406233 0.00002
NM_000103.4(CYP19A1):c.859-6G>T rs756838912 0.00002
NM_000103.4(CYP19A1):c.*1381C>T rs1047960680 0.00001
NM_000103.4(CYP19A1):c.*1877T>G rs886051273 0.00001
NM_000103.4(CYP19A1):c.*2126G>A rs977456146 0.00001
NM_000103.4(CYP19A1):c.1230C>T (p.Pro410=) rs775991900 0.00001
NM_000103.4(CYP19A1):c.1425C>T (p.His475=) rs982752444 0.00001
NM_000103.4(CYP19A1):c.146-7G>T rs1262602894 0.00001
NM_000103.4(CYP19A1):c.501C>A (p.Ser167=) rs35900050 0.00001
NM_000103.4(CYP19A1):c.625G>A (p.Asp209Asn) rs748459967 0.00001
NM_000103.4(CYP19A1):c.637A>G (p.Ile213Val) rs1045354487 0.00001
NM_000103.4(CYP19A1):c.907A>G (p.Met303Val) rs2031445857 0.00001
NM_000103.4(CYP19A1):c.*1364C>T rs2030715622
NM_000103.4(CYP19A1):c.*1441G>A rs943520982
NM_000103.4(CYP19A1):c.*1545G>T rs2030691135
NM_000103.4(CYP19A1):c.*1833C>A rs2030664773
NM_000103.4(CYP19A1):c.*1878T>C rs2030660970
NM_000103.4(CYP19A1):c.*1888A>T rs4275794
NM_000103.4(CYP19A1):c.*191C>A rs190403648
NM_000103.4(CYP19A1):c.*191del rs546415613
NM_000103.4(CYP19A1):c.*2067T>G rs1042269504
NM_000103.4(CYP19A1):c.*2192T>C rs886051271
NM_000103.4(CYP19A1):c.*240C>A rs1379933476
NM_000103.4(CYP19A1):c.*2589C>A rs751474218
NM_000103.4(CYP19A1):c.*2607A>G rs878905692
NM_000103.4(CYP19A1):c.*2645dup rs886051269
NM_000103.4(CYP19A1):c.*483G>C rs886051276
NM_000103.4(CYP19A1):c.*638G>T rs886051275
NM_000103.4(CYP19A1):c.*646C>G rs2030790688
NM_000103.4(CYP19A1):c.*78G>T rs28757206
NM_000103.4(CYP19A1):c.1133T>C (p.Leu378Ser) rs2031101006
NM_000103.4(CYP19A1):c.1212C>A (p.Leu404=) rs772086882
NM_000103.4(CYP19A1):c.1378G>A (p.Val460Met) rs372500474
NM_000103.4(CYP19A1):c.138A>C (p.Ser46=) rs766042143
NM_000103.4(CYP19A1):c.196C>T (p.Leu66=) rs2033435368
NM_000103.4(CYP19A1):c.228C>T (p.Tyr76=) rs775978298
NM_000103.4(CYP19A1):c.357A>C (p.Lys119Asn) rs2032722258
NM_000103.4(CYP19A1):c.493G>A (p.Ala165Thr) rs769769335
NM_000103.4(CYP19A1):c.629-8dup rs750758078
NM_000103.4(CYP19A1):c.859-9A>G
NM_000103.4(CYP19A1):c.924T>G (p.Pro308=) rs371448768

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.