ClinVar Miner

List of variants in gene QARS1 studied for Inborn genetic diseases

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_005051.3(QARS1):c.2123C>T (p.Pro708Leu) rs142327602 0.00108
NM_005051.3(QARS1):c.1246G>A (p.Val416Ile) rs147076980 0.00024
NM_005051.3(QARS1):c.143T>C (p.Ile48Thr) rs201397059 0.00016
NM_005051.3(QARS1):c.610G>A (p.Ala204Thr) rs148374607 0.00012
NM_005051.3(QARS1):c.461G>A (p.Arg154Gln) rs201032950 0.00010
NM_005051.3(QARS1):c.1585C>T (p.Pro529Ser) rs373719958 0.00009
NM_005051.3(QARS1):c.395G>C (p.Arg132Thr) rs530494890 0.00008
NM_005051.3(QARS1):c.2085-3C>T rs1024765171 0.00006
NM_005051.3(QARS1):c.2210C>T (p.Pro737Leu) rs772699618 0.00006
NM_005051.3(QARS1):c.1613G>A (p.Arg538Gln) rs778807845 0.00005
NM_005051.3(QARS1):c.1741A>G (p.Asn581Asp) rs777671697 0.00004
NM_005051.3(QARS1):c.1284_1285del (p.Asp430fs) rs775652214 0.00003
NM_005051.3(QARS1):c.140C>T (p.Thr47Ile) rs1342775742 0.00002
NM_005051.3(QARS1):c.602G>A (p.Arg201Gln) rs192040640 0.00002
NM_005051.3(QARS1):c.1832T>G (p.Ile611Ser) rs757743183 0.00001
NM_005051.3(QARS1):c.1972G>C (p.Val658Leu) rs748978904 0.00001
NM_005051.3(QARS1):c.2083C>G (p.Leu695Val) rs376482152 0.00001
NM_005051.3(QARS1):c.2234G>A (p.Arg745His) rs770019480 0.00001
NM_005051.3(QARS1):c.4G>A (p.Ala2Thr) rs1375795727 0.00001
NM_005051.3(QARS1):c.1013A>G (p.Tyr338Cys) rs1174267054
NM_005051.3(QARS1):c.1407G>C (p.Trp469Cys)
NM_005051.3(QARS1):c.140C>G (p.Thr47Ser)
NM_005051.3(QARS1):c.1463A>T (p.Asn488Ile)
NM_005051.3(QARS1):c.1468C>T (p.His490Tyr)
NM_005051.3(QARS1):c.1573C>T (p.Arg525Trp) rs1553751726
NM_005051.3(QARS1):c.1735A>G (p.Ile579Val)
NM_005051.3(QARS1):c.1781A>C (p.Asn594Thr) rs372524045
NM_005051.3(QARS1):c.1828C>T (p.Pro610Ser)
NM_005051.3(QARS1):c.1930G>T (p.Val644Phe) rs775375268
NM_005051.3(QARS1):c.2057T>C (p.Met686Thr)
NM_005051.3(QARS1):c.461G>T (p.Arg154Leu)
NM_005051.3(QARS1):c.484G>A (p.Gly162Ser)
NM_005051.3(QARS1):c.596C>T (p.Thr199Ile)
NM_005051.3(QARS1):c.611C>T (p.Ala204Val) rs911977359
NM_005051.3(QARS1):c.882C>A (p.Asn294Lys)
NM_005051.3(QARS1):c.956G>A (p.Cys319Tyr)

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