ClinVar Miner

List of variants in gene combination AARS2, POLR1C studied for Leukoencephalopathy, progressive, with ovarian failure

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_020745.4(AARS2):c.1015A>G (p.Ile339Val) rs324136 0.89518
NM_020745.4(AARS2):c.2871A>G (p.Ser957=) rs325008 0.87930
NM_020745.4(AARS2):c.2683-20A>G rs325007 0.87773
NM_020745.4(AARS2):c.2598+117G>C rs325005 0.87685
NM_020745.4(AARS2):c.2607G>A (p.Lys869=) rs498512 0.67400
NM_020745.4(AARS2):c.243+6G>A rs167772 0.50019
NM_020745.4(AARS2):c.1157C>T (p.Ala386Val) rs143271585 0.00019
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys) rs200105202 0.00007
NM_020745.4(AARS2):c.2893G>A (p.Gly965Arg) rs543267101 0.00004
NM_020745.4(AARS2):c.1213G>A (p.Glu405Lys) rs587777592 0.00001
NM_020745.4(AARS2):c.1561C>T (p.Arg521Ter) rs587777591 0.00001
NM_020745.4(AARS2):c.1871G>A (p.Trp624Ter) rs749701451 0.00001
NM_020745.4(AARS2):c.446G>A (p.Cys149Tyr) rs1296069449 0.00001
NM_020745.4(AARS2):c.1041-29A>G rs7740535
NM_020745.4(AARS2):c.149T>G (p.Phe50Cys) rs587777590
NM_020745.4(AARS2):c.1687A>T (p.Asn563Tyr) rs2153354521
NM_020745.4(AARS2):c.1695C>G (p.Tyr565Ter)
NM_020745.4(AARS2):c.2255+35C>A rs325002
NM_020745.4(AARS2):c.2255+5G>A
NM_020745.4(AARS2):c.2476C>T (p.Arg826Ter)
NM_020745.4(AARS2):c.2611dup (p.Thr871fs) rs749666514
NM_020745.4(AARS2):c.2793+86_2793+87insCAGA rs10627820
NM_020745.4(AARS2):c.31_39del (p.Leu12_Arg14del) rs562829310
NM_020745.4(AARS2):c.385A>C (p.Thr129Pro) rs773257559
NM_020745.4(AARS2):c.781del (p.Gln261fs) rs1554148927
NM_020745.4(AARS2):c.804G>A (p.Met268Ile)
NM_020745.4(AARS2):c.87_88dup (p.Leu30fs) rs780686559
NM_020745.4(AARS2):c.907C>A (p.Pro303Thr)
NM_020745.4(AARS2):c.995G>A (p.Ser332Asn)

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