ClinVar Miner

List of variants in gene combination AARS2, POLR1C reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_020745.4(AARS2):c.2253G>A (p.Gly751=) rs78397386 0.00210
NM_020745.4(AARS2):c.2630G>A (p.Arg877Gln) rs141941157 0.00048
NM_020745.4(AARS2):c.1569C>T (p.Ser523=) rs374173311 0.00042
NM_020745.4(AARS2):c.1661G>A (p.Arg554His) rs139280416 0.00014
NM_020745.4(AARS2):c.2416C>T (p.Arg806Trp) rs200653667 0.00004
NM_020745.4(AARS2):c.1037C>T (p.Pro346Leu)

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