ClinVar Miner

List of variants in gene YME1L1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 194
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HGVS dbSNP gnomAD frequency
NM_014263.4(YME1L1):c.1720-36G>C rs2480718 0.99189
NM_014263.4(YME1L1):c.*45C>T rs9833 0.85438
NM_014263.4(YME1L1):c.1299-79C>T rs10829190 0.84237
NM_014263.4(YME1L1):c.332-150C>T rs10829195 0.84229
NM_014263.4(YME1L1):c.1720-57G>A rs7901976 0.50223
NM_014263.4(YME1L1):c.540+184C>T rs11015563 0.49649
NM_014263.4(YME1L1):c.1568-198T>C rs10829188 0.47587
NM_014263.4(YME1L1):c.168+170A>G rs11015571 0.23873
NM_014263.4(YME1L1):c.169-155G>A rs2274635 0.23574
NM_014263.4(YME1L1):c.205C>T (p.Leu69=) rs2274634 0.23565
NM_014263.4(YME1L1):c.1720-87dup rs35804170 0.23553
NM_014263.4(YME1L1):c.34-25G>A rs10764675 0.23364
NM_014263.4(YME1L1):c.2008-7G>A rs11015538 0.23338
NM_014263.4(YME1L1):c.859-191G>T rs10829192 0.23326
NM_014263.4(YME1L1):c.950-41T>A rs2274743 0.23298
NM_014263.4(YME1L1):c.1103-168T>C rs2297143 0.23294
NM_014263.4(YME1L1):c.431-128C>T rs10829194 0.22188
NM_014263.4(YME1L1):c.691+16A>G rs2275752 0.22144
NM_014263.4(YME1L1):c.1236-109G>A rs3904096 0.10935
NM_014263.4(YME1L1):c.168+1372_168+1373del rs74970402 0.10803
NM_014263.4(YME1L1):c.168+148_168+154dup rs60678081 0.10739
NM_014263.4(YME1L1):c.331+127G>T rs117799729 0.09880
NM_014263.4(YME1L1):c.169-197T>G rs788209 0.09723
NM_014263.4(YME1L1):c.331+128T>G rs74790732 0.08439
NM_014263.4(YME1L1):c.39A>G (p.Thr13=) rs11538750 0.07544
NM_014263.4(YME1L1):c.1921-99A>G rs12782501 0.07543
NM_014263.4(YME1L1):c.540+225G>A rs11015562 0.07441
NM_014263.4(YME1L1):c.33+95T>C rs2274636 0.07361
NM_014263.4(YME1L1):c.33+24T>A rs2274637 0.07350
NM_014263.4(YME1L1):c.430+28A>G rs41282208 0.06169
NM_014263.4(YME1L1):c.1299-156C>T rs11015544 0.05896
NM_014263.4(YME1L1):c.541-110G>A rs73598027 0.05817
NM_014263.4(YME1L1):c.2007+192A>T rs73598021 0.05651
NM_014263.4(YME1L1):c.332-164C>T rs73598031 0.05391
NM_014263.4(YME1L1):c.168+1269A>G rs62622019 0.05375
NM_014263.4(YME1L1):c.431-219C>T rs113179933 0.04490
NM_014263.4(YME1L1):c.33+35C>T rs11816716 0.03337
NM_014263.4(YME1L1):c.1298+77G>T rs77783516 0.01172
NM_014263.4(YME1L1):c.168+1169G>A rs12572302 0.01169
NM_014263.4(YME1L1):c.437T>C (p.Ile146Thr) rs147243198 0.00536
NM_014263.4(YME1L1):c.2008-37A>G rs117297789 0.00418
NM_014263.4(YME1L1):c.541-16T>C rs2275751 0.00418
NM_014263.4(YME1L1):c.950-3T>C rs201400073 0.00362
NM_014263.4(YME1L1):c.1929T>C (p.Val643=) rs74128570 0.00271
NM_014263.4(YME1L1):c.168+1261G>A rs141172987 0.00106
NM_014263.4(YME1L1):c.859-17A>T rs140772478 0.00100
NM_014263.4(YME1L1):c.1593T>C (p.Ile531=) rs143656124 0.00073
NM_014263.4(YME1L1):c.754C>T (p.Leu252=) rs148729223 0.00031
NM_014263.4(YME1L1):c.720C>G (p.Leu240=) rs151335590 0.00027
NM_014263.4(YME1L1):c.294C>G (p.Ser98=) rs371923418 0.00021
NM_014263.4(YME1L1):c.2035T>C (p.Leu679=) rs137952803 0.00017
NM_014263.4(YME1L1):c.308A>T (p.Gln103Leu) rs187142528 0.00015
NM_014263.4(YME1L1):c.168+1234A>G rs571562991 0.00009
NM_014263.4(YME1L1):c.2067C>T (p.Leu689=) rs764985814 0.00006
NM_014263.4(YME1L1):c.9C>T (p.Ser3=) rs368552306 0.00005
NM_014263.4(YME1L1):c.1155T>C (p.Ser385=) rs367933766 0.00004
NM_014263.4(YME1L1):c.783C>T (p.Phe261=) rs370179921 0.00003
NM_014263.4(YME1L1):c.1980C>T (p.Ile660=) rs201724223 0.00001
NM_014263.4(YME1L1):c.2013A>G (p.Ser671=) rs542565458 0.00001
NC_000010.10:g.(?_27411750)_(27443139_?)dup
NM_014263.4(YME1L1):c.1005G>A (p.Val335=)
NM_014263.4(YME1L1):c.1041T>C (p.Ser347=)
NM_014263.4(YME1L1):c.1047C>T (p.Ser349=)
NM_014263.4(YME1L1):c.1102+13G>T
NM_014263.4(YME1L1):c.1102+3A>G
NM_014263.4(YME1L1):c.1115C>T (p.Ala372Val)
NM_014263.4(YME1L1):c.1188T>C (p.His396=)
NM_014263.4(YME1L1):c.1236-10dup
NM_014263.4(YME1L1):c.1236-17T>C
NM_014263.4(YME1L1):c.1281C>T (p.Phe427=)
NM_014263.4(YME1L1):c.1309C>T (p.Arg437Cys)
NM_014263.4(YME1L1):c.131G>A (p.Arg44Gln)
NM_014263.4(YME1L1):c.1383G>T (p.Trp461Cys)
NM_014263.4(YME1L1):c.1409A>G (p.Gln470Arg)
NM_014263.4(YME1L1):c.1411+13_1411+17del
NM_014263.4(YME1L1):c.1411+19A>T
NM_014263.4(YME1L1):c.1412-5A>G
NM_014263.4(YME1L1):c.1414G>A (p.Val472Ile)
NM_014263.4(YME1L1):c.1455C>T (p.Ser485=)
NM_014263.4(YME1L1):c.1467G>A (p.Leu489=)
NM_014263.4(YME1L1):c.1476T>A (p.Leu492=)
NM_014263.4(YME1L1):c.1531A>C (p.Lys511Gln)
NM_014263.4(YME1L1):c.1567+12T>G
NM_014263.4(YME1L1):c.1567+9C>G
NM_014263.4(YME1L1):c.1651T>C (p.Tyr551His)
NM_014263.4(YME1L1):c.1675A>G (p.Ile559Val)
NM_014263.4(YME1L1):c.168+1226C>T
NM_014263.4(YME1L1):c.168+1233_168+1234insAAAACCTCTCTTCCTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_014263.4(YME1L1):c.168+1281T>C
NM_014263.4(YME1L1):c.168+1288A>G
NM_014263.4(YME1L1):c.168+1352T>G
NM_014263.4(YME1L1):c.168+1364G>A
NM_014263.4(YME1L1):c.168+1379C>T
NM_014263.4(YME1L1):c.168+1407C>G
NM_014263.4(YME1L1):c.168+1407C>T rs753432173
NM_014263.4(YME1L1):c.168+1417C>T
NM_014263.4(YME1L1):c.168+1473C>T
NM_014263.4(YME1L1):c.168+1540T>G rs3780926
NM_014263.4(YME1L1):c.1711C>G (p.Leu571Val)
NM_014263.4(YME1L1):c.1720-17A>G
NM_014263.4(YME1L1):c.1725C>G (p.Ser575=)
NM_014263.4(YME1L1):c.1830C>T (p.Thr610=)
NM_014263.4(YME1L1):c.1847-12A>G
NM_014263.4(YME1L1):c.1847-34T>C rs2297152
NM_014263.4(YME1L1):c.1885A>C (p.Lys629Gln)
NM_014263.4(YME1L1):c.1886A>T (p.Lys629Met)
NM_014263.4(YME1L1):c.1888C>T (p.Arg630Trp)
NM_014263.4(YME1L1):c.190C>T (p.Leu64Phe)
NM_014263.4(YME1L1):c.1920+62C>A rs2297151
NM_014263.4(YME1L1):c.1921-13C>A
NM_014263.4(YME1L1):c.1921-144C>G rs10829187
NM_014263.4(YME1L1):c.1921-20T>A
NM_014263.4(YME1L1):c.1921-9T>C
NM_014263.4(YME1L1):c.1935C>G (p.Thr645=)
NM_014263.4(YME1L1):c.1944T>A (p.Asp648Glu)
NM_014263.4(YME1L1):c.1952A>G (p.Lys651Arg)
NM_014263.4(YME1L1):c.1967C>G (p.Thr656Ser)
NM_014263.4(YME1L1):c.1981G>A (p.Glu661Lys)
NM_014263.4(YME1L1):c.2008-15C>T
NM_014263.4(YME1L1):c.2029C>T (p.His677Tyr)
NM_014263.4(YME1L1):c.2030A>G (p.His677Arg)
NM_014263.4(YME1L1):c.2046T>C (p.His682=)
NM_014263.4(YME1L1):c.2084C>T (p.Thr695Ile)
NM_014263.4(YME1L1):c.2138T>C (p.Leu713Ser)
NM_014263.4(YME1L1):c.243A>G (p.Leu81=)
NM_014263.4(YME1L1):c.246T>C (p.Leu82=)
NM_014263.4(YME1L1):c.254T>A (p.Phe85Tyr)
NM_014263.4(YME1L1):c.266A>T (p.Lys89Ile)
NM_014263.4(YME1L1):c.271A>G (p.Ile91Val)
NM_014263.4(YME1L1):c.281A>G (p.His94Arg)
NM_014263.4(YME1L1):c.303T>G (p.Ser101=)
NM_014263.4(YME1L1):c.30C>G (p.Pro10=)
NM_014263.4(YME1L1):c.32A>T (p.Gln11Leu)
NM_014263.4(YME1L1):c.331+11G>T
NM_014263.4(YME1L1):c.331+138del rs57762952
NM_014263.4(YME1L1):c.331+17T>C
NM_014263.4(YME1L1):c.332-16T>C
NM_014263.4(YME1L1):c.332-4C>G
NM_014263.4(YME1L1):c.34-10C>T rs1218879121
NM_014263.4(YME1L1):c.380A>G (p.His127Arg)
NM_014263.4(YME1L1):c.380A>T (p.His127Leu)
NM_014263.4(YME1L1):c.40G>T (p.Val14Phe)
NM_014263.4(YME1L1):c.419A>G (p.Gln140Arg)
NM_014263.4(YME1L1):c.430+17A>G
NM_014263.4(YME1L1):c.431-12T>C
NM_014263.4(YME1L1):c.431-19A>G
NM_014263.4(YME1L1):c.479G>A (p.Arg160His)
NM_014263.4(YME1L1):c.486G>A (p.Gln162=)
NM_014263.4(YME1L1):c.496G>A (p.Glu166Lys)
NM_014263.4(YME1L1):c.4T>A (p.Phe2Ile)
NM_014263.4(YME1L1):c.522A>C (p.Ile174=)
NM_014263.4(YME1L1):c.534C>T (p.Phe178=)
NM_014263.4(YME1L1):c.540+10C>T
NM_014263.4(YME1L1):c.540+12T>G
NM_014263.4(YME1L1):c.540+17dup rs751609994
NM_014263.4(YME1L1):c.540+19G>A
NM_014263.4(YME1L1):c.540+7A>C
NM_014263.4(YME1L1):c.553C>T (p.Arg185Trp)
NM_014263.4(YME1L1):c.612T>C (p.Pro204=)
NM_014263.4(YME1L1):c.613G>A (p.Glu205Lys)
NM_014263.4(YME1L1):c.617C>T (p.Ala206Val) rs765121672
NM_014263.4(YME1L1):c.640G>A (p.Gly214Ser)
NM_014263.4(YME1L1):c.641G>C (p.Gly214Ala)
NM_014263.4(YME1L1):c.647C>T (p.Ala216Val)
NM_014263.4(YME1L1):c.648G>A (p.Ala216=)
NM_014263.4(YME1L1):c.691+15_691+16inv
NM_014263.4(YME1L1):c.691+19A>G
NM_014263.4(YME1L1):c.692-10TC[2] rs201208519
NM_014263.4(YME1L1):c.692-13C>A
NM_014263.4(YME1L1):c.692-19C>T
NM_014263.4(YME1L1):c.704G>A (p.Arg235Gln)
NM_014263.4(YME1L1):c.717T>G (p.Ile239Met)
NM_014263.4(YME1L1):c.726T>A (p.Val242=)
NM_014263.4(YME1L1):c.738C>T (p.Phe246=)
NM_014263.4(YME1L1):c.766T>C (p.Phe256Leu)
NM_014263.4(YME1L1):c.775+7G>A
NM_014263.4(YME1L1):c.776-166del rs113682414
NM_014263.4(YME1L1):c.785G>A (p.Arg262Gln)
NM_014263.4(YME1L1):c.792A>G (p.Thr264=)
NM_014263.4(YME1L1):c.805T>A (p.Ser269Thr)
NM_014263.4(YME1L1):c.847C>T (p.His283Tyr)
NM_014263.4(YME1L1):c.858G>A (p.Gly286=)
NM_014263.4(YME1L1):c.884A>G (p.Gln295Arg)
NM_014263.4(YME1L1):c.88T>G (p.Ser30Ala)
NM_014263.4(YME1L1):c.89C>G (p.Ser30Cys)
NM_014263.4(YME1L1):c.928C>G (p.Leu310Val)
NM_014263.4(YME1L1):c.949+11T>G
NM_014263.4(YME1L1):c.949+16T>C
NM_014263.4(YME1L1):c.949+19A>G
NM_014263.4(YME1L1):c.949+48_949+49del rs138049028
NM_014263.4(YME1L1):c.950-18G>A
NM_014263.4(YME1L1):c.950-4T>A
NM_014263.4(YME1L1):c.961G>T (p.Val321Phe)
NM_014263.4(YME1L1):c.962T>C (p.Val321Ala)

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