ClinVar Miner

List of variants in gene RNASEL studied for carcinoma

Included ClinVar conditions (243):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_021133.4(RNASEL):c.1385G>A (p.Arg462Gln) rs486907 0.28062
NM_021133.4(RNASEL):c.793G>T (p.Glu265Ter) rs74315364 0.00334
NM_021133.4(RNASEL):c.3G>A (p.Met1Ile) rs74315365 0.00021
NM_021133.4(RNASEL):c.1260C>T (p.Phe420=) rs540408368 0.00010
NM_021133.4(RNASEL):c.1033dup (p.Ala345fs)
NM_021133.4(RNASEL):c.1208G>C (p.Arg403Pro) rs141194514
NM_021133.4(RNASEL):c.1219del (p.Cys407fs) rs2102370333
NM_021133.4(RNASEL):c.1222C>T (p.Leu408=) rs2102370326
NM_021133.4(RNASEL):c.1222del (p.Leu408fs) rs2102370328
NM_021133.4(RNASEL):c.1230C>A (p.Ser410Arg) rs989361325
NM_021133.4(RNASEL):c.1234del (p.Arg412fs) rs2102370300
NM_021133.4(RNASEL):c.1237G>A (p.Glu413Lys) rs2102370287
NM_021133.4(RNASEL):c.1239G>A (p.Glu413=) rs1186074827
NM_021133.4(RNASEL):c.1243A>G (p.Ser415Gly) rs2102370272
NM_021133.4(RNASEL):c.1248del (p.Leu417fs) rs2102370267
NM_021133.4(RNASEL):c.1250del (p.Leu417fs) rs2102370262
NM_021133.4(RNASEL):c.1250dup (p.Leu417fs) rs2102370262
NM_021133.4(RNASEL):c.1252_1253insA (p.Val418fs) rs2102370252
NM_021133.4(RNASEL):c.1253dup (p.Thr419fs) rs2102370247
NM_021133.4(RNASEL):c.1256C>A (p.Thr419Lys) rs2102370237
NM_021133.4(RNASEL):c.1256del (p.Thr419fs) rs2102370243
NM_021133.4(RNASEL):c.1257A>T (p.Thr419=) rs2102370230
NM_021133.4(RNASEL):c.1257del (p.Phe420fs) rs2102370233
NM_021133.4(RNASEL):c.1259dup (p.Tyr421fs) rs2102370225
NM_021133.4(RNASEL):c.1263T>C (p.Tyr421=) rs2102370209
NM_021133.4(RNASEL):c.1264G>T (p.Gly422Trp) rs2102370198
NM_021133.4(RNASEL):c.1266dup (p.Ser423fs) rs2102370197
NM_021133.4(RNASEL):c.1268del (p.Ser423fs) rs2102370194
NM_021133.4(RNASEL):c.1270G>C (p.Glu424Gln) rs1053454537
NM_021133.4(RNASEL):c.1273dup (p.Ser425fs) rs2102370187
NM_021133.4(RNASEL):c.1279del (p.Arg427fs) rs2102370169
NM_021133.4(RNASEL):c.1285dup (p.His429fs) rs2102370147
NM_021133.4(RNASEL):c.1286del (p.His429fs) rs2102370138
NM_021133.4(RNASEL):c.1287_1288insA (p.Leu430fs) rs2102370108
NM_021133.4(RNASEL):c.1289T>A (p.Leu430Ter) rs2102370104
NM_021133.4(RNASEL):c.1289T>C (p.Leu430Ser) rs2102370104
NM_021133.4(RNASEL):c.1293dup (p.Val432fs) rs2102370096
NM_021133.4(RNASEL):c.1300del (p.Val434fs) rs2102370082
NM_021133.4(RNASEL):c.1303A>C (p.Thr435Pro) rs2102370075
NM_021133.4(RNASEL):c.1305C>T (p.Thr435=) rs2102370068
NM_021133.4(RNASEL):c.1311del (p.Cys437fs) rs2102370054
NM_021133.4(RNASEL):c.1311dup (p.Glu438Ter) rs2102370050
NM_021133.4(RNASEL):c.1322del (p.Leu441fs) rs2102370008
NM_021133.4(RNASEL):c.1343dup (p.His448fs) rs2102369976
NM_021133.4(RNASEL):c.1351del (p.Glu451fs) rs2102369965
NM_021133.4(RNASEL):c.1358del (p.Val453fs) rs2102369958
NM_021133.4(RNASEL):c.1360del (p.Glu454fs) rs2102369955
NM_021133.4(RNASEL):c.1364dup (p.Asn455fs) rs2102369947
NM_021133.4(RNASEL):c.1368G>T (p.Glu456Asp) rs2102369941
NM_021133.4(RNASEL):c.1369del (p.Glu457fs) rs2102369939
NM_021133.4(RNASEL):c.1380del (p.Phe460fs) rs2102369911
NM_021133.4(RNASEL):c.1385del (p.Arg462fs) rs2102369892
NM_021133.4(RNASEL):c.1388A>G (p.Asn463Ser) rs2102369881
NM_021133.4(RNASEL):c.1393C>A (p.Leu465Met) rs2102369874
NM_021133.4(RNASEL):c.1395del (p.Ser466fs) rs2102369871
NM_021133.4(RNASEL):c.1399_1400insA (p.Ser467fs) rs2102369865
NM_021133.4(RNASEL):c.1400dup (p.Ile468fs) rs2102369862
NM_021133.4(RNASEL):c.1403del (p.Ile468fs) rs2102369853
NM_021133.4(RNASEL):c.1405T>A (p.Phe469Ile) rs1196436666
NM_021133.4(RNASEL):c.1407T>A (p.Phe469Leu) rs1364210034
NM_021133.4(RNASEL):c.1407del (p.Phe469fs) rs2102369842
NM_021133.4(RNASEL):c.1409A>C (p.Lys470Thr) rs2102369835
NM_021133.4(RNASEL):c.1411del (p.Ala471fs) rs2102369827
NM_021133.4(RNASEL):c.1412C>T (p.Ala471Val) rs2102369822
NM_021133.4(RNASEL):c.1413del (p.Val472fs) rs2102369818
NM_021133.4(RNASEL):c.1414_1415del (p.Val472fs) rs2102369813
NM_021133.4(RNASEL):c.1416T>C (p.Val472=) rs2102369809
NM_021133.4(RNASEL):c.1418A>C (p.Gln473Pro) rs1661571994
NM_021133.4(RNASEL):c.1422A>T (p.Glu474Asp) rs2102369798
NM_021133.4(RNASEL):c.1429T>A (p.Leu477Met) rs2102369789
NM_021133.4(RNASEL):c.1430del (p.Leu477fs) rs2102369783
NM_021133.4(RNASEL):c.1481-1G>T
NM_021133.4(RNASEL):c.1591G>A (p.Val531Met)
NM_021133.4(RNASEL):c.2039+1del
NM_021133.4(RNASEL):c.526G>A (p.Ala176Thr)

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