ClinVar Miner

List of variants in gene AARS1 reported as likely pathogenic for not provided

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729 0.00004
NM_001605.3(AARS1):c.1997T>C (p.Val666Ala) rs145056270 0.00001
NM_001605.3(AARS1):c.242A>C (p.Lys81Thr) rs786205157 0.00001
NM_001605.3(AARS1):c.259G>A (p.Asp87Asn) rs763757370 0.00001
NM_001605.3(AARS1):c.976C>T (p.Arg326Trp) rs777601008 0.00001
NM_001605.3(AARS1):c.14dup (p.Thr6fs)
NM_001605.3(AARS1):c.2177C>T (p.Thr726Met) rs1480620711
NM_001605.3(AARS1):c.2235dup (p.Ala746fs) rs1597434047
NM_001605.3(AARS1):c.304G>C (p.Gly102Arg) rs1597446183
NM_001605.3(AARS1):c.327_331del (p.Tyr109_Lys111delinsTer) rs763937206
NM_001605.3(AARS1):c.736C>T (p.Arg246Ter) rs756337758
NM_001605.3(AARS1):c.985C>T (p.Arg329Cys) rs1064795664
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_001605.3(AARS1):c.997C>T (p.Arg333Ter) rs868097991

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