ClinVar Miner

List of variants in gene KARS1 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_005548.3(KARS1):c.1784C>G (p.Thr595Ser) rs6834 0.12646
NM_005548.3(KARS1):c.75A>G (p.Arg25=) rs5030748 0.07063
NM_005548.3(KARS1):c.1079-7C>T rs16941301 0.03165
NM_005548.3(KARS1):c.1674C>T (p.Leu558=) rs143267922 0.00252
NM_005548.3(KARS1):c.1258C>T (p.Arg420Cys) rs77573084 0.00204
NM_005548.3(KARS1):c.170A>G (p.Asn57Ser) rs117041419 0.00185
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln) rs149772470 0.00160
NM_005548.3(KARS1):c.612A>G (p.Thr204=) rs141539149 0.00081
NM_005548.3(KARS1):c.717T>G (p.Phe239Leu) rs117188693 0.00075
NM_005548.3(KARS1):c.274G>C (p.Glu92Gln) rs11557669 0.00044
NM_005548.3(KARS1):c.601T>C (p.Tyr201His) rs150529876 0.00043
NM_005548.3(KARS1):c.1275T>C (p.Asp425=) rs779241883 0.00010
NM_005548.3(KARS1):c.1551+10G>A rs367722503 0.00010
NM_005548.3(KARS1):c.1256C>T (p.Thr419Ile) rs773192982 0.00009
NM_005548.3(KARS1):c.759T>C (p.Tyr253=) rs538215630 0.00007
NM_005548.3(KARS1):c.157G>A (p.Ala53Thr) rs552944283 0.00003
NM_005548.3(KARS1):c.708G>C (p.Leu236=) rs876657479 0.00003
NM_005548.3(KARS1):c.1742A>C (p.Asn581Thr) rs117561624 0.00002
NM_005548.3(KARS1):c.1184A>G (p.Asn395Ser) rs780462719 0.00001
NM_005548.3(KARS1):c.1232C>T (p.Thr411Met) rs768044754 0.00001
NM_005548.3(KARS1):c.1677G>A (p.Thr559=) rs765014185 0.00001
NM_005548.3(KARS1):c.159T>A (p.Ala53=) rs1555513622
NM_005548.3(KARS1):c.170A>T (p.Asn57Ile) rs117041419
NM_005548.3(KARS1):c.1732AAG[1] (p.Lys579del) rs753346124
NM_005548.3(KARS1):c.898C>T (p.Pro300Ser) rs1555513082

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