ClinVar Miner

List of variants in gene AARS1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_001605.3(AARS1):c.1019A>G (p.Asn340Ser) rs140135726 0.00018
NM_001605.3(AARS1):c.1811A>G (p.Asn604Ser) rs371595630 0.00010
NM_001605.3(AARS1):c.1420C>T (p.Arg474Trp) rs377163632 0.00004
NM_001605.3(AARS1):c.2249G>A (p.Arg750Gln) rs1383041194 0.00003
NM_001605.3(AARS1):c.2129C>T (p.Pro710Leu) rs754391789 0.00002
NM_001605.3(AARS1):c.2505C>T (p.Ala835=) rs769571173 0.00002
NM_001605.3(AARS1):c.1073G>T (p.Gly358Val) rs370368784 0.00001
NM_001605.3(AARS1):c.1077T>C (p.Asp359=) rs1319547380 0.00001
NM_001605.3(AARS1):c.1120A>G (p.Ile374Val) rs142128800 0.00001
NM_001605.3(AARS1):c.169A>G (p.Ile57Val) rs372131127 0.00001
NM_001605.3(AARS1):c.1997T>C (p.Val666Ala) rs145056270 0.00001
NM_001605.3(AARS1):c.2048G>A (p.Arg683Gln) rs371048516 0.00001
NM_001605.3(AARS1):c.2665C>T (p.Leu889Phe) rs751242154 0.00001
NM_001605.3(AARS1):c.521A>G (p.Asn174Ser) rs1567608496 0.00001
NM_001605.3(AARS1):c.70A>C (p.Thr24Pro) rs768158204 0.00001
NM_001605.3(AARS1):c.835T>C (p.Tyr279His) rs1232484436 0.00001
NM_001605.3(AARS1):c.976C>T (p.Arg326Trp) rs777601008 0.00001
GRCh37/hg19 16q22.1(chr16:70305684-70316666)x1
NM_001605.3(AARS1):c.1222G>A (p.Gly408Arg) rs369135192
NM_001605.3(AARS1):c.1267G>T (p.Asp423Tyr) rs1555540897
NM_001605.3(AARS1):c.1519A>G (p.Met507Val) rs1064797212
NM_001605.3(AARS1):c.1545C>A (p.Phe515Leu) rs200578293
NM_001605.3(AARS1):c.1793G>A (p.Arg598Gln)
NM_001605.3(AARS1):c.1817C>T (p.Thr606Ile)
NM_001605.3(AARS1):c.1842C>T (p.Ala614=) rs1057521642
NM_001605.3(AARS1):c.1855C>T (p.Leu619Phe)
NM_001605.3(AARS1):c.1975A>C (p.Met659Leu)
NM_001605.3(AARS1):c.204A>T (p.Arg68Ser)
NM_001605.3(AARS1):c.2053G>A (p.Val685Met) rs531257362
NM_001605.3(AARS1):c.2076C>T (p.Asp692=) rs2152153600
NM_001605.3(AARS1):c.2089G>A (p.Val697Ile) rs368191672
NM_001605.3(AARS1):c.2248C>G (p.Arg750Gly) rs751300562
NM_001605.3(AARS1):c.2286+6C>T
NM_001605.3(AARS1):c.2607+44C>T
NM_001605.3(AARS1):c.958C>G (p.Arg320Gly) rs138490305

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