ClinVar Miner

List of variants in gene ABCC9 reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_020297.4(ABCC9):c.142+15dup rs571187142 0.00428
NM_020297.4(ABCC9):c.1296C>T (p.Pro432=) rs10770865 0.00308
NM_020297.4(ABCC9):c.2093-7T>C rs185235724 0.00261
NM_020297.4(ABCC9):c.407-14C>A rs201279882 0.00248
NM_020297.4(ABCC9):c.372T>C (p.Asn124=) rs377384557 0.00051
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226 0.00039
NM_020297.4(ABCC9):c.3030T>C (p.Ala1010=) rs76102634 0.00039
NM_020297.4(ABCC9):c.1200G>A (p.Thr400=) rs150096625 0.00038
NM_020297.4(ABCC9):c.2154C>T (p.Ile718=) rs74067815 0.00031
NM_020297.4(ABCC9):c.3339T>G (p.Ser1113=) rs138280089 0.00031
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=) rs143346402 0.00029
NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=) rs145561881 0.00029
NM_020297.4(ABCC9):c.3729G>A (p.Ser1243=) rs140182559 0.00023
NM_020297.4(ABCC9):c.3096+13C>T rs370712530 0.00017
NM_020297.4(ABCC9):c.4062G>A (p.Ser1354=) rs145005748 0.00016
NM_020297.4(ABCC9):c.2339+13A>G rs189255166 0.00012
NM_020297.4(ABCC9):c.3288T>C (p.Phe1096=) rs377372612 0.00011
NM_020297.4(ABCC9):c.96C>T (p.Val32=) rs727505034 0.00011
NM_020297.4(ABCC9):c.852T>A (p.Ser284=) rs113562970 0.00010
NM_020297.4(ABCC9):c.3993C>T (p.His1331=) rs377704379 0.00008
NM_020297.4(ABCC9):c.4437T>C (p.Ile1479=) rs368079660 0.00006
NM_020297.4(ABCC9):c.48C>T (p.Asn16=) rs199631710 0.00005
NM_020297.4(ABCC9):c.2157C>T (p.Leu719=) rs201848437 0.00004
NM_020297.4(ABCC9):c.816+11G>A rs200986421 0.00004
NM_020297.4(ABCC9):c.1164+10G>A rs876657427 0.00003
NM_020297.4(ABCC9):c.1212C>T (p.Ser404=) rs376726505 0.00003
NM_020297.4(ABCC9):c.4569T>C (p.Asn1523=) rs727504538 0.00003
NM_020297.4(ABCC9):c.4470A>G (p.Val1490=) rs727505001 0.00002
NM_020297.4(ABCC9):c.918G>A (p.Leu306=) rs142115849 0.00002
NM_020297.4(ABCC9):c.1875G>A (p.Ser625=) rs727502873 0.00001
NM_020297.4(ABCC9):c.2199-6T>C rs535477725 0.00001
NM_020297.4(ABCC9):c.2547T>C (p.His849=) rs876657428 0.00001
NM_020297.4(ABCC9):c.324C>T (p.Ala108=) rs770552940 0.00001
NM_020297.4(ABCC9):c.406+14C>G rs752547896 0.00001
NM_020297.4(ABCC9):c.4365G>A (p.Gln1455=) rs727504785 0.00001
NM_020297.4(ABCC9):c.1012-14del rs727505105
NM_020297.4(ABCC9):c.1165-6dup rs35857705
NM_020297.4(ABCC9):c.3474-14C>T rs876657429
NM_020297.4(ABCC9):c.420T>C (p.Tyr140=) rs397517189
NM_020297.4(ABCC9):c.817-7del rs193922684

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