ClinVar Miner

List of variants in gene combination AARS2, POLR1C reported by PreventionGenetics, part of Exact Sciences

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_020745.4(AARS2):c.2548A>G (p.Met850Val) rs35783144 0.01782
NM_020745.4(AARS2):c.2629C>T (p.Arg877Trp) rs112247130 0.00812
NM_020745.4(AARS2):c.1752G>A (p.Glu584=) rs78525157 0.00653
NM_020745.4(AARS2):c.2007+8C>T rs150125794 0.00599
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser) rs139372744 0.00220
NM_020745.4(AARS2):c.2253G>A (p.Gly751=) rs78397386 0.00210
NM_020745.4(AARS2):c.1195A>C (p.Asn399His) rs148363748 0.00059
NM_020745.4(AARS2):c.1569C>T (p.Ser523=) rs374173311 0.00042
NM_020745.4(AARS2):c.1300+9G>T rs372864557 0.00025
NM_020745.4(AARS2):c.678C>T (p.Tyr226=) rs78135749 0.00023
NM_020745.4(AARS2):c.761G>C (p.Gly254Ala) rs199919912 0.00007
NM_020745.4(AARS2):c.1281G>A (p.Gly427=) rs557359115
NM_020745.4(AARS2):c.1752+8_1752+9del rs764521639
NM_020745.4(AARS2):c.1753-3C>T
NM_020745.4(AARS2):c.2008-9C>A
NM_020745.4(AARS2):c.234C>A (p.Gly78=) rs752238227
NM_020745.4(AARS2):c.455C>A (p.Ala152Asp)
NM_020745.4(AARS2):c.914_917del (p.Tyr305fs)

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