ClinVar Miner

List of variants in gene AKR1C2 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001354.6(AKR1C2):c.-179-162G>A rs2801884 0.98371
NM_001393392.1(AKR1C2):c.570+299C>T rs2490065 0.96616
NM_001393392.1(AKR1C2):c.846+251A>G rs2801887 0.95285
NM_001393392.1(AKR1C2):c.930-204G>T rs12355347 0.44240
NM_001393392.1(AKR1C2):c.84+82T>C rs11252876 0.37914
NM_001393392.1(AKR1C2):c.681-42T>C rs78396968 0.27841
NM_001393392.1(AKR1C2):c.570+145T>G rs2854490 0.27364
NM_001393392.1(AKR1C2):c.*311G>A rs10904383 0.27276
NM_001393392.1(AKR1C2):c.929+7A>G rs200698968 0.23703
NM_001393392.1(AKR1C2):c.929+185T>C rs199743770 0.23340
NM_001393392.1(AKR1C2):c.929+186G>T rs201759252 0.20438
NM_001393392.1(AKR1C2):c.85-223T>C rs12772460 0.19481
NM_001393392.1(AKR1C2):c.930-10dup rs34448751 0.19017
NM_001393392.1(AKR1C2):c.84+221A>C rs2801929 0.18429
NM_001393392.1(AKR1C2):c.369+78G>A rs2275929 0.15235
NM_001393392.1(AKR1C2):c.441A>G (p.Thr147=) rs3207909 0.14705
NM_001393392.1(AKR1C2):c.447+96G>T rs35767584 0.10889
NM_001393392.1(AKR1C2):c.369+448A>G rs12764498 0.10861
NM_001393392.1(AKR1C2):c.369+426T>A rs61856068 0.08284
NM_001393392.1(AKR1C2):c.85-160A>C rs11819128 0.08274
NM_001393392.1(AKR1C2):c.327C>T (p.Asp109=) rs13945 0.08271
NM_001393392.1(AKR1C2):c.84+110A>C rs61856084 0.08244
NM_001393392.1(AKR1C2):c.370-125C>T rs11818926 0.08171
NM_001393392.1(AKR1C2):c.84+244T>C rs148281619 0.08004
NM_001393392.1(AKR1C2):c.447+17G>A rs61856066 0.07821
NM_001393392.1(AKR1C2):c.570+80T>A rs2854489 0.06883
NM_001393392.1(AKR1C2):c.137T>A (p.Phe46Tyr) rs2854482 0.06877
NM_001393392.1(AKR1C2):c.448-94G>A rs2854488 0.06772
NM_001393392.1(AKR1C2):c.370-211T>C rs3020668 0.06586
NM_001393392.1(AKR1C2):c.*173G>A rs113349934 0.06483
NM_001393392.1(AKR1C2):c.369+422T>C rs11252875 0.06311
NM_001393392.1(AKR1C2):c.253-262G>A rs140216733 0.06299
NM_001393392.1(AKR1C2):c.370-189T>C rs11252874 0.06275
NM_001393392.1(AKR1C2):c.847-112G>A rs113280686 0.06239
NM_001393392.1(AKR1C2):c.847-51T>C rs559779441 0.02228
NM_001393392.1(AKR1C2):c.847-277A>G rs113218277 0.01783
NM_001393392.1(AKR1C2):c.370-103del rs143472802 0.01665
NM_001393392.1(AKR1C2):c.370-108G>A rs113465089 0.01597
NM_001354.6(AKR1C2):c.-179-181C>A rs1937870 0.01367
NM_001393392.1(AKR1C2):c.681-39C>G rs201606136 0.01070
NM_001354.6(AKR1C2):c.-179-342C>A rs201890753 0.00537
NM_001393392.1(AKR1C2):c.*297C>A rs113361610
NM_001393392.1(AKR1C2):c.252+202C>T rs67362530
NM_001393392.1(AKR1C2):c.570+180G>A rs2518044
NM_001393392.1(AKR1C2):c.84+140G>T rs75824824
NM_001393392.1(AKR1C2):c.846+76del rs200291679
NM_001393392.1(AKR1C2):c.930-54G>A rs12774733
NM_001393392.1(AKR1C2):c.930-56G>C rs4307630

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