ClinVar Miner

List of variants in gene combination AARS2, POLR1C reported as uncertain significance for Inborn genetic diseases

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_020745.4(AARS2):c.1150-4C>G rs141516924 0.00049
NM_020745.4(AARS2):c.2630G>A (p.Arg877Gln) rs141941157 0.00048
NM_020745.4(AARS2):c.1157C>T (p.Ala386Val) rs143271585 0.00019
NM_020745.4(AARS2):c.2131C>T (p.Arg711Cys) rs758466937 0.00019
NM_020745.4(AARS2):c.2551C>G (p.Leu851Val) rs376103315 0.00014
NM_020745.4(AARS2):c.785G>A (p.Arg262Gln) rs139974034 0.00014
NM_020745.4(AARS2):c.824C>T (p.Ala275Val) rs753386864 0.00009
NM_020745.4(AARS2):c.82C>G (p.Arg28Gly) rs758360552 0.00008
NM_020745.4(AARS2):c.302G>A (p.Arg101His) rs545566267 0.00004
NM_020745.4(AARS2):c.1052G>A (p.Arg351His) rs863223862 0.00003
NM_020745.4(AARS2):c.2561G>A (p.Arg854His) rs751611980 0.00003
NM_020745.4(AARS2):c.2861C>T (p.Ala954Val) rs747312867 0.00003
NM_020745.4(AARS2):c.2221G>A (p.Ala741Thr) rs536579476 0.00002
NM_020745.4(AARS2):c.368G>T (p.Arg123Leu) rs745761471 0.00001
NM_020745.4(AARS2):c.923G>A (p.Arg308Gln) rs368473952 0.00001
NM_020745.4(AARS2):c.1067G>A (p.Arg356Gln)
NM_020745.4(AARS2):c.109G>A (p.Ala37Thr) rs1786528628
NM_020745.4(AARS2):c.1102C>A (p.Pro368Thr)
NM_020745.4(AARS2):c.1135G>A (p.Val379Met)
NM_020745.4(AARS2):c.1183G>C (p.Ala395Pro)
NM_020745.4(AARS2):c.1379A>G (p.Lys460Arg)
NM_020745.4(AARS2):c.1438C>T (p.Arg480Trp)
NM_020745.4(AARS2):c.1511G>A (p.Arg504His)
NM_020745.4(AARS2):c.1645G>A (p.Val549Met)
NM_020745.4(AARS2):c.1682G>C (p.Arg561Thr) rs886061488
NM_020745.4(AARS2):c.170G>A (p.Arg57Gln)
NM_020745.4(AARS2):c.1771G>A (p.Ala591Thr)
NM_020745.4(AARS2):c.1819C>T (p.Pro607Ser)
NM_020745.4(AARS2):c.193C>T (p.Arg65Trp)
NM_020745.4(AARS2):c.1975C>A (p.Pro659Thr)
NM_020745.4(AARS2):c.2062G>A (p.Val688Met)
NM_020745.4(AARS2):c.2108T>C (p.Leu703Pro)
NM_020745.4(AARS2):c.2210C>G (p.Ala737Gly)
NM_020745.4(AARS2):c.227A>G (p.Asn76Ser)
NM_020745.4(AARS2):c.2299G>A (p.Gly767Arg)
NM_020745.4(AARS2):c.25G>A (p.Ala9Thr) rs537231845
NM_020745.4(AARS2):c.2722C>T (p.Pro908Ser) rs202149382
NM_020745.4(AARS2):c.2783A>G (p.Gln928Arg)
NM_020745.4(AARS2):c.352C>G (p.Leu118Val)
NM_020745.4(AARS2):c.358G>A (p.Asp120Asn)
NM_020745.4(AARS2):c.466C>G (p.Leu156Val)
NM_020745.4(AARS2):c.880A>G (p.Asn294Asp)

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