ClinVar Miner

List of variants studied for Aromatase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_000103.4(CYP19A1):c.*161T>G rs4646 0.70442
NM_000103.4(CYP19A1):c.*2258_*2259insA rs3217422 0.46134
NM_000103.4(CYP19A1):c.*1601G>A rs12148604 0.46111
NM_000103.4(CYP19A1):c.*19C>T rs10046 0.42803
NM_000103.4(CYP19A1):c.240A>G (p.Val80=) rs700518 0.39802
NM_000103.4(CYP19A1):c.*2170G>A rs2255192 0.24198
NM_000103.4(CYP19A1):c.*2467G>A rs934634 0.23681
NM_000103.4(CYP19A1):c.*2511G>A rs934633 0.09620
NM_000103.4(CYP19A1):c.790C>T (p.Arg264Cys) rs700519 0.07673
NM_000103.4(CYP19A1):c.-39+14659C>A rs28757082 0.03938
NM_000103.4(CYP19A1):c.602C>T (p.Thr201Met) rs28757184 0.03319
NM_000103.4(CYP19A1):c.*2039G>T rs35636804 0.03201
NM_000103.4(CYP19A1):c.186C>T (p.His62=) rs60308277 0.03055
NM_000103.4(CYP19A1):c.*1296T>C rs28757212 0.02370
NM_000103.4(CYP19A1):c.109T>C (p.Leu37=) rs58282176 0.00628
NM_000103.4(CYP19A1):c.42C>G (p.Thr14=) rs61203654 0.00627
NM_000103.4(CYP19A1):c.*1190C>T rs28757210 0.00584
NM_000103.4(CYP19A1):c.*2632T>C rs28757213 0.00419
NM_000103.4(CYP19A1):c.*2723A>G rs2289104 0.00409
NM_000103.4(CYP19A1):c.*543C>G rs28757209 0.00376
NM_000103.4(CYP19A1):c.*280A>T rs77828415 0.00341
NM_000103.4(CYP19A1):c.963C>G (p.Leu321=) rs59359360 0.00160
NM_000103.4(CYP19A1):c.115T>C (p.Trp39Arg) rs2236722 0.00092
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.-39+14572C>T rs530192973 0.00058
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.*108A>G rs28757207 0.00019
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.*460G>C rs28757208 0.00009
NM_000103.4(CYP19A1):c.1224C>T (p.Pro408=) rs2304461 0.00009
NM_000103.4(CYP19A1):c.-39+14646C>T rs931758970 0.00007
NM_000103.4(CYP19A1):c.24G>A (p.Pro8=) rs143386224 0.00007
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.336C>T (p.Tyr112=) rs139905959 0.00006
NM_000103.4(CYP19A1):c.*747G>A rs866111735 0.00005
NM_000103.4(CYP19A1):c.-39+1G>A rs956997586 0.00005
NM_000103.4(CYP19A1):c.383A>G (p.His128Arg) rs375975652 0.00005
NM_000103.4(CYP19A1):c.*2519T>C rs1234949259 0.00004
NM_000103.4(CYP19A1):c.1488C>T (p.Asn496=) rs374079882 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.*53C>T rs527749263 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.976C>T (p.Pro326Ser) rs368902124 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.*2624C>T rs562193184 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.501C>A (p.Ser167=) rs35900050 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>G rs4275794
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.-118G>A rs1053290768
NM_000103.4(CYP19A1):c.-39+14624_-39+14625del rs780146461
NM_000103.4(CYP19A1):c.-39+14640A>G rs376711291
NM_000103.4(CYP19A1):c.1378G>A (p.Val460Met) rs372500474
NM_000103.4(CYP19A1):c.357A>C (p.Lys119Asn) rs2032722258
NM_000103.4(CYP19A1):c.629-8dup rs750758078
NM_000103.4(CYP19A1):c.924T>G (p.Pro308=) rs371448768

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