ClinVar Miner

List of variants in gene EPRS1 reported as likely benign for not provided

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Gene type:
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Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_004446.3(EPRS1):c.231+5G>A rs181521242 0.00698
NM_004446.3(EPRS1):c.1638T>C (p.Tyr546=) rs148863776 0.00299
NM_004446.3(EPRS1):c.2085C>T (p.Ala695=) rs144613889 0.00109
NM_004446.3(EPRS1):c.2575T>A (p.Ser859Thr) rs141685068 0.00099
NM_004446.3(EPRS1):c.2677C>A (p.Pro893Thr) rs147971538 0.00071
NM_004446.3(EPRS1):c.3121C>T (p.His1041Tyr) rs5030753 0.00071
NM_004446.3(EPRS1):c.3215G>A (p.Gly1072Asp) rs141360496 0.00053
NM_004446.3(EPRS1):c.2584G>C (p.Ala862Pro) rs142360054 0.00052
NM_004446.3(EPRS1):c.624-8T>C rs202027375 0.00021
NM_004446.3(EPRS1):c.2181+19A>G rs146332254 0.00019
NM_004446.3(EPRS1):c.1888A>G (p.Ile630Val) rs150364999 0.00017
NM_004446.3(EPRS1):c.1914C>T (p.Asp638=) rs372683669 0.00011
NM_004446.3(EPRS1):c.3806A>G (p.Tyr1269Cys) rs150455059 0.00011
NM_004446.3(EPRS1):c.2064-17C>T rs767932972 0.00009
NM_004446.3(EPRS1):c.4143C>T (p.Ala1381=) rs186607798 0.00009
NM_004446.3(EPRS1):c.2088G>A (p.Pro696=) rs145416177 0.00007
NM_004446.3(EPRS1):c.1743-6A>G rs371011298 0.00006
NM_004446.3(EPRS1):c.93C>T (p.Ser31=) rs745829078 0.00005
NM_004446.3(EPRS1):c.1605+10A>G rs760365391 0.00004
NM_004446.3(EPRS1):c.3301-5A>C rs781463442 0.00004
NM_004446.3(EPRS1):c.4206A>G (p.Gln1402=) rs749662281 0.00004
NM_004446.3(EPRS1):c.795A>G (p.Gln265=) rs138537399 0.00004
NM_004446.3(EPRS1):c.1116-4C>G rs939675121 0.00003
NM_004446.3(EPRS1):c.579G>A (p.Ala193=) rs754799431 0.00003
NM_004446.3(EPRS1):c.1296G>A (p.Val432=) rs754737139 0.00002
NM_004446.3(EPRS1):c.1350-10A>G rs373619553 0.00002
NM_004446.3(EPRS1):c.2859G>C (p.Val953=) rs145928787 0.00002
NM_004446.3(EPRS1):c.3091-9T>G rs754094612 0.00002
NM_004446.3(EPRS1):c.1742+11T>C rs776617380 0.00001
NM_004446.3(EPRS1):c.189T>A (p.Thr63=) rs368840035 0.00001
NM_004446.3(EPRS1):c.2598A>G (p.Glu866=) rs768238076 0.00001
NM_004446.3(EPRS1):c.2949T>C (p.Asp983=) rs1455214803 0.00001
NM_004446.3(EPRS1):c.3374-11G>A rs751173919 0.00001
NM_004446.3(EPRS1):c.345C>T (p.Asn115=) rs1291513047 0.00001
NM_004446.3(EPRS1):c.388+18T>C rs140545456 0.00001
NM_004446.3(EPRS1):c.4245-16T>C rs1192779618 0.00001
NM_004446.3(EPRS1):c.4488C>T (p.Val1496=) rs778954915 0.00001
NM_004446.3(EPRS1):c.1128A>C (p.Thr376=)
NM_004446.3(EPRS1):c.1128A>G (p.Thr376=) rs139272363
NM_004446.3(EPRS1):c.117T>C (p.Ile39=)
NM_004446.3(EPRS1):c.132-15G>A
NM_004446.3(EPRS1):c.1371G>A (p.Thr457=)
NM_004446.3(EPRS1):c.1371G>T (p.Thr457=)
NM_004446.3(EPRS1):c.1434+8A>C
NM_004446.3(EPRS1):c.1494+14CT[2]
NM_004446.3(EPRS1):c.1495-11A>G
NM_004446.3(EPRS1):c.1506A>G (p.Pro502=)
NM_004446.3(EPRS1):c.1549C>A (p.Pro517Thr)
NM_004446.3(EPRS1):c.1605+12A>G
NM_004446.3(EPRS1):c.1683G>A (p.Ser561=)
NM_004446.3(EPRS1):c.186A>G (p.Ala62=)
NM_004446.3(EPRS1):c.189T>C (p.Thr63=) rs368840035
NM_004446.3(EPRS1):c.1902G>T (p.Val634=)
NM_004446.3(EPRS1):c.1938C>T (p.Asn646=)
NM_004446.3(EPRS1):c.193G>A (p.Ala65Thr)
NM_004446.3(EPRS1):c.1950+14G>T
NM_004446.3(EPRS1):c.1950+18C>G
NM_004446.3(EPRS1):c.1951-8C>G
NM_004446.3(EPRS1):c.2049T>C (p.Pro683=)
NM_004446.3(EPRS1):c.2064-19C>T
NM_004446.3(EPRS1):c.2184C>T (p.Thr728=)
NM_004446.3(EPRS1):c.2241T>C (p.Ser747=)
NM_004446.3(EPRS1):c.231+7A>C
NM_004446.3(EPRS1):c.231+8A>G
NM_004446.3(EPRS1):c.2328T>C (p.Asp776=)
NM_004446.3(EPRS1):c.2541+7A>C
NM_004446.3(EPRS1):c.2619A>T (p.Ile873=)
NM_004446.3(EPRS1):c.2652T>C (p.Asp884=)
NM_004446.3(EPRS1):c.2703G>C (p.Ala901=)
NM_004446.3(EPRS1):c.2703G>T (p.Ala901=)
NM_004446.3(EPRS1):c.270T>G (p.Ser90=)
NM_004446.3(EPRS1):c.2775+19T>G
NM_004446.3(EPRS1):c.2775+5G>A
NM_004446.3(EPRS1):c.2776-8A>T
NM_004446.3(EPRS1):c.2778T>C (p.Asp926=)
NM_004446.3(EPRS1):c.2862G>A (p.Ser954=)
NM_004446.3(EPRS1):c.2877G>A (p.Glu959=)
NM_004446.3(EPRS1):c.3039-4G>T rs1271285086
NM_004446.3(EPRS1):c.3060A>G (p.Lys1020=)
NM_004446.3(EPRS1):c.3090+14C>T
NM_004446.3(EPRS1):c.3091-17A>G
NM_004446.3(EPRS1):c.3183G>A (p.Lys1061=) rs2102565265
NM_004446.3(EPRS1):c.3189T>C (p.Phe1063=)
NM_004446.3(EPRS1):c.3252A>G (p.Gln1084=)
NM_004446.3(EPRS1):c.3261A>G (p.Leu1087=)
NM_004446.3(EPRS1):c.3279T>C (p.His1093=)
NM_004446.3(EPRS1):c.3301-6T>C
NM_004446.3(EPRS1):c.3373+19G>A
NM_004446.3(EPRS1):c.3374-4del
NM_004446.3(EPRS1):c.3396A>G (p.Lys1132=)
NM_004446.3(EPRS1):c.3453+18_3453+19del
NM_004446.3(EPRS1):c.3513A>G (p.Glu1171=)
NM_004446.3(EPRS1):c.3555+20A>C
NM_004446.3(EPRS1):c.3556-12A>G
NM_004446.3(EPRS1):c.3556-16A>G
NM_004446.3(EPRS1):c.3556-5T>C
NM_004446.3(EPRS1):c.3651A>G (p.Ala1217=)
NM_004446.3(EPRS1):c.3712-13C>T
NM_004446.3(EPRS1):c.3712-15CT[2]
NM_004446.3(EPRS1):c.3858T>A (p.Val1286=)
NM_004446.3(EPRS1):c.388+20A>G
NM_004446.3(EPRS1):c.3910-8G>A
NM_004446.3(EPRS1):c.3933T>C (p.Ile1311=)
NM_004446.3(EPRS1):c.3942A>C (p.Ala1314=)
NM_004446.3(EPRS1):c.4020C>T (p.Arg1340=) rs755360790
NM_004446.3(EPRS1):c.4092C>T (p.Pro1364=)
NM_004446.3(EPRS1):c.4149A>G (p.Arg1383=)
NM_004446.3(EPRS1):c.4230C>T (p.Val1410=)
NM_004446.3(EPRS1):c.4233C>T (p.Thr1411=)
NM_004446.3(EPRS1):c.4244+19T>C
NM_004446.3(EPRS1):c.4299T>C (p.Phe1433=)
NM_004446.3(EPRS1):c.4309C>T (p.Leu1437=)
NM_004446.3(EPRS1):c.4323+4AG[2]
NM_004446.3(EPRS1):c.4388+10A>T
NM_004446.3(EPRS1):c.4428T>C (p.Ala1476=) rs1660615615
NM_004446.3(EPRS1):c.4458C>G (p.Leu1486=)
NM_004446.3(EPRS1):c.47-19C>A
NM_004446.3(EPRS1):c.516C>A (p.Thr172=)
NM_004446.3(EPRS1):c.516C>T (p.Thr172=)
NM_004446.3(EPRS1):c.534T>G (p.Pro178=)
NM_004446.3(EPRS1):c.591G>A (p.Lys197=)
NM_004446.3(EPRS1):c.623+11G>A
NM_004446.3(EPRS1):c.69C>T (p.His23=)
NM_004446.3(EPRS1):c.732A>G (p.Glu244=) rs780308576
NM_004446.3(EPRS1):c.750+7A>G rs2102592061
NM_004446.3(EPRS1):c.804T>C (p.Tyr268=)
NM_004446.3(EPRS1):c.873G>A (p.Val291=) rs2102591647
NM_004446.3(EPRS1):c.900A>G (p.Lys300=) rs2102591626
NM_004446.3(EPRS1):c.987G>A (p.Gly329=)
NM_004446.3(EPRS1):c.99A>G (p.Glu33=)

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