ClinVar Miner

List of variants in gene NEXMIF studied for Inborn genetic diseases

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Gene type:
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Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_001008537.3(NEXMIF):c.2598C>A (p.Ser866=) rs41298498 0.01502
NM_001008537.3(NEXMIF):c.2801A>G (p.Asn934Ser) rs41306133 0.01057
NM_001008537.3(NEXMIF):c.151C>A (p.Pro51Thr) rs145018752 0.00705
NM_001008537.3(NEXMIF):c.3798C>T (p.Gly1266=) rs149185175 0.00527
NM_001008537.3(NEXMIF):c.2154T>C (p.Asn718=) rs61741739 0.00368
NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu) rs61731613 0.00368
NM_001008537.3(NEXMIF):c.2373A>C (p.Thr791=) rs61742545 0.00315
NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015 0.00258
NM_001008537.3(NEXMIF):c.855A>G (p.Leu285=) rs3762242 0.00184
NM_001008537.3(NEXMIF):c.4205A>G (p.Asn1402Ser) rs140532942 0.00061
NM_001008537.3(NEXMIF):c.3555G>T (p.Gly1185=) rs142714242 0.00059
NM_001008537.3(NEXMIF):c.2139G>A (p.Glu713=) rs139194076 0.00055
NM_001008537.3(NEXMIF):c.4509T>C (p.Pro1503=) rs41303725 0.00055
NM_001008537.3(NEXMIF):c.2098G>C (p.Val700Leu) rs141776597 0.00038
NM_001008537.3(NEXMIF):c.2505C>T (p.His835=) rs143453497 0.00038
NM_001008537.3(NEXMIF):c.133G>A (p.Ala45Thr) rs199960807 0.00030
NM_001008537.3(NEXMIF):c.1716G>T (p.Glu572Asp) rs148005156 0.00028
NM_001008537.3(NEXMIF):c.4320C>T (p.Asn1440=) rs769979162 0.00027
NM_001008537.3(NEXMIF):c.347A>G (p.Asn116Ser) rs147908044 0.00026
NM_001008537.3(NEXMIF):c.3775G>A (p.Ala1259Thr) rs761368099 0.00022
NM_001008537.3(NEXMIF):c.4048G>A (p.Asp1350Asn) rs200982385 0.00017
NM_001008537.3(NEXMIF):c.313A>C (p.Ile105Leu) rs141738108 0.00014
NM_001008537.3(NEXMIF):c.42C>T (p.Asn14=) rs370708043 0.00013
NM_001008537.3(NEXMIF):c.1854G>A (p.Glu618=) rs142687313 0.00012
NM_001008537.3(NEXMIF):c.357G>A (p.Glu119=) rs142318614 0.00012
NM_001008537.3(NEXMIF):c.3753A>G (p.Ile1251Met) rs143365662 0.00012
NM_001008537.3(NEXMIF):c.3823A>G (p.Ser1275Gly) rs201434271 0.00012
NM_001008537.3(NEXMIF):c.3460C>A (p.Pro1154Thr) rs781129973 0.00011
NM_001008537.3(NEXMIF):c.1712G>A (p.Ser571Asn) rs372044888 0.00010
NM_001008537.3(NEXMIF):c.1983C>T (p.His661=) rs138583612 0.00010
NM_001008537.3(NEXMIF):c.2851G>A (p.Asp951Asn) rs771918287 0.00010
NM_001008537.3(NEXMIF):c.3001G>C (p.Val1001Leu) rs755462704 0.00010
NM_001008537.3(NEXMIF):c.3812T>C (p.Met1271Thr) rs138236888 0.00010
NM_001008537.3(NEXMIF):c.265C>T (p.His89Tyr) rs752314023 0.00009
NM_001008537.3(NEXMIF):c.2672A>G (p.Asn891Ser) rs186535459 0.00008
NM_001008537.3(NEXMIF):c.4446T>G (p.Phe1482Leu) rs770781682 0.00008
NM_001008537.3(NEXMIF):c.4043A>G (p.His1348Arg) rs779047497 0.00007
NM_001008537.3(NEXMIF):c.4346G>A (p.Arg1449His) rs778760434 0.00006
NM_001008537.3(NEXMIF):c.4368C>A (p.Ala1456=) rs781623230 0.00006
NM_001008537.3(NEXMIF):c.4406G>A (p.Arg1469Gln) rs151004644 0.00006
NM_001008537.3(NEXMIF):c.3479A>G (p.Asn1160Ser) rs764370545 0.00005
NM_001008537.3(NEXMIF):c.3650G>A (p.Arg1217His) rs143271748 0.00005
NM_001008537.3(NEXMIF):c.1261C>T (p.Leu421Phe) rs1320278331 0.00004
NM_001008537.3(NEXMIF):c.2130G>A (p.Lys710=) rs749479992 0.00004
NM_001008537.3(NEXMIF):c.262G>A (p.Glu88Lys) rs927047621 0.00004
NM_001008537.3(NEXMIF):c.2784C>G (p.Leu928=) rs754561437 0.00004
NM_001008537.3(NEXMIF):c.2966G>A (p.Arg989Gln) rs140836456 0.00004
NM_001008537.3(NEXMIF):c.413G>A (p.Cys138Tyr) rs754465132 0.00004
NM_001008537.3(NEXMIF):c.4217C>A (p.Ala1406Glu) rs775633155 0.00004
NM_001008537.3(NEXMIF):c.4321G>A (p.Gly1441Arg) rs745720102 0.00004
NM_001008537.3(NEXMIF):c.783C>T (p.Phe261=) rs768534908 0.00004
NM_001008537.3(NEXMIF):c.1119G>C (p.Trp373Cys) rs780581302 0.00003
NM_001008537.3(NEXMIF):c.1161G>C (p.Glu387Asp) rs762881063 0.00003
NM_001008537.3(NEXMIF):c.153G>A (p.Pro51=) rs147096194 0.00003
NM_001008537.3(NEXMIF):c.2432C>T (p.Pro811Leu) rs750889767 0.00003
NM_001008537.3(NEXMIF):c.2544C>T (p.Thr848=) rs139924662 0.00003
NM_001008537.3(NEXMIF):c.2357C>G (p.Thr786Ser) rs1450517934 0.00002
NM_001008537.3(NEXMIF):c.2786C>T (p.Thr929Ile) rs370164571 0.00002
NM_001008537.3(NEXMIF):c.3319G>A (p.Asp1107Asn) rs751468762 0.00002
NM_001008537.3(NEXMIF):c.1125G>T (p.Glu375Asp) rs1300706350 0.00001
NM_001008537.3(NEXMIF):c.1196A>G (p.Asp399Gly) rs776363168 0.00001
NM_001008537.3(NEXMIF):c.1234C>A (p.Pro412Thr) rs1240885021 0.00001
NM_001008537.3(NEXMIF):c.139A>G (p.Ile47Val) rs774834561 0.00001
NM_001008537.3(NEXMIF):c.1520G>A (p.Arg507Lys) rs778472603 0.00001
NM_001008537.3(NEXMIF):c.1577A>G (p.Lys526Arg) rs371692121 0.00001
NM_001008537.3(NEXMIF):c.1757G>C (p.Gly586Ala) rs776845564 0.00001
NM_001008537.3(NEXMIF):c.1786A>G (p.Asn596Asp) rs1404043155 0.00001
NM_001008537.3(NEXMIF):c.1877G>A (p.Arg626His) rs201084618 0.00001
NM_001008537.3(NEXMIF):c.2314C>T (p.Arg772Cys) rs998926695 0.00001
NM_001008537.3(NEXMIF):c.2320T>C (p.Ser774Pro) rs371138262 0.00001
NM_001008537.3(NEXMIF):c.2331T>C (p.His777=) rs762407174 0.00001
NM_001008537.3(NEXMIF):c.2917G>C (p.Glu973Gln) rs768684416 0.00001
NM_001008537.3(NEXMIF):c.2920A>T (p.Ile974Phe) rs748858323 0.00001
NM_001008537.3(NEXMIF):c.3022T>C (p.Ser1008Pro) rs760616317 0.00001
NM_001008537.3(NEXMIF):c.3294C>T (p.Phe1098=) rs756252858 0.00001
NM_001008537.3(NEXMIF):c.3323G>A (p.Ser1108Asn) rs763992609 0.00001
NM_001008537.3(NEXMIF):c.3703G>A (p.Glu1235Lys) rs778573611 0.00001
NM_001008537.3(NEXMIF):c.3932G>A (p.Arg1311Gln) rs867465185 0.00001
NM_001008537.3(NEXMIF):c.4145A>G (p.Asn1382Ser) rs1556016213 0.00001
NM_001008537.3(NEXMIF):c.4243A>G (p.Met1415Val) rs797045648 0.00001
NM_001008537.3(NEXMIF):c.4258G>A (p.Glu1420Lys) rs756589710 0.00001
NM_001008537.3(NEXMIF):c.4337A>G (p.Lys1446Arg) rs771736722 0.00001
NM_001008537.3(NEXMIF):c.443G>A (p.Gly148Asp) rs752027152 0.00001
NM_001008537.3(NEXMIF):c.653G>A (p.Arg218Gln) rs747496798 0.00001
NM_001008537.3(NEXMIF):c.1050dup (p.Lys351Ter) rs2080115006
NM_001008537.3(NEXMIF):c.1054A>G (p.Ser352Gly)
NM_001008537.3(NEXMIF):c.1132A>C (p.Lys378Gln)
NM_001008537.3(NEXMIF):c.1336A>C (p.Ile446Leu)
NM_001008537.3(NEXMIF):c.1382G>A (p.Arg461His)
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter) rs886041701
NM_001008537.3(NEXMIF):c.1477_1480del (p.Leu493fs)
NM_001008537.3(NEXMIF):c.1518_1522del (p.Arg507fs) rs1556016642
NM_001008537.3(NEXMIF):c.154G>A (p.Val52Met) rs747414246
NM_001008537.3(NEXMIF):c.1567dup (p.Trp523fs) rs1569335666
NM_001008537.3(NEXMIF):c.1683G>A (p.Val561=)
NM_001008537.3(NEXMIF):c.1741C>T (p.Leu581=) rs1569335620
NM_001008537.3(NEXMIF):c.1749C>G (p.Pro583=) rs776062521
NM_001008537.3(NEXMIF):c.1768AAG[3] (p.Lys593del) rs752119872
NM_001008537.3(NEXMIF):c.1775A>G (p.Lys592Arg)
NM_001008537.3(NEXMIF):c.1796C>T (p.Thr599Met)
NM_001008537.3(NEXMIF):c.1813C>A (p.Pro605Thr)
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001008537.3(NEXMIF):c.2099T>A (p.Val700Glu)
NM_001008537.3(NEXMIF):c.2150T>C (p.Leu717Pro)
NM_001008537.3(NEXMIF):c.2311T>C (p.Ser771Pro) rs1569335460
NM_001008537.3(NEXMIF):c.2332_2333delinsTG (p.Glu778Trp) rs1556016488
NM_001008537.3(NEXMIF):c.2476A>G (p.Asn826Asp)
NM_001008537.3(NEXMIF):c.2494T>C (p.Tyr832His) rs1569335404
NM_001008537.3(NEXMIF):c.2521A>G (p.Asn841Asp) rs2147440160
NM_001008537.3(NEXMIF):c.2605T>C (p.Ser869Pro) rs1216179072
NM_001008537.3(NEXMIF):c.2737del (p.Ser913fs)
NM_001008537.3(NEXMIF):c.2796A>G (p.Thr932=)
NM_001008537.3(NEXMIF):c.2849A>G (p.Tyr950Cys) rs373566578
NM_001008537.3(NEXMIF):c.2909A>T (p.Asn970Ile) rs1556016404
NM_001008537.3(NEXMIF):c.306A>G (p.Thr102=)
NM_001008537.3(NEXMIF):c.3126G>C (p.Glu1042Asp) rs1569335193
NM_001008537.3(NEXMIF):c.3202C>T (p.Leu1068Phe) rs1556016358
NM_001008537.3(NEXMIF):c.3325G>A (p.Val1109Met) rs948687949
NM_001008537.3(NEXMIF):c.3418A>T (p.Met1140Leu)
NM_001008537.3(NEXMIF):c.3425A>G (p.Asn1142Ser) rs2080101661
NM_001008537.3(NEXMIF):c.3439G>C (p.Val1147Leu) rs1569335080
NM_001008537.3(NEXMIF):c.3444C>T (p.Ser1148=)
NM_001008537.3(NEXMIF):c.3458dup (p.Asn1153fs) rs1602211123
NM_001008537.3(NEXMIF):c.3459C>A (p.Asn1153Lys)
NM_001008537.3(NEXMIF):c.3481G>T (p.Asp1161Tyr) rs1281329703
NM_001008537.3(NEXMIF):c.3493C>T (p.Gln1165Ter) rs1569335056
NM_001008537.3(NEXMIF):c.3578A>T (p.Gln1193Leu)
NM_001008537.3(NEXMIF):c.370G>A (p.Ala124Thr)
NM_001008537.3(NEXMIF):c.3728G>A (p.Arg1243His) rs1256402686
NM_001008537.3(NEXMIF):c.3728G>C (p.Arg1243Pro)
NM_001008537.3(NEXMIF):c.3776C>A (p.Ala1259Asp)
NM_001008537.3(NEXMIF):c.394T>C (p.Ser132Pro)
NM_001008537.3(NEXMIF):c.4052C>A (p.Pro1351His) rs2080098842
NM_001008537.3(NEXMIF):c.4074G>T (p.Glu1358Asp) rs1315310568
NM_001008537.3(NEXMIF):c.4152dup (p.Ser1385fs) rs2080098372
NM_001008537.3(NEXMIF):c.4177A>C (p.Arg1393=)
NM_001008537.3(NEXMIF):c.4341G>C (p.Leu1447Phe)
NM_001008537.3(NEXMIF):c.4493C>A (p.Thr1498Asn)
NM_001008537.3(NEXMIF):c.505G>A (p.Asp169Asn) rs1569335941
NM_001008537.3(NEXMIF):c.532G>A (p.Ala178Thr)
NM_001008537.3(NEXMIF):c.553_555dup (p.Gln185_Cys186insGln)
NM_001008537.3(NEXMIF):c.589G>A (p.Glu197Lys)
NM_001008537.3(NEXMIF):c.826del (p.Cys276fs)
NM_001008537.3(NEXMIF):c.938G>A (p.Arg313Gln) rs1247214773
NM_001008537.3(NEXMIF):c.938G>T (p.Arg313Leu)

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