ClinVar Miner

List of variants in gene NEXMIF studied for syndromic intellectual disability

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_001008537.3(NEXMIF):c.151C>A (p.Pro51Thr) rs145018752 0.00705
NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu) rs61731613 0.00368
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.3823A>G (p.Ser1275Gly) rs201434271 0.00012
NM_001008537.3(NEXMIF):c.685G>T (p.Asp229Tyr) rs139459124 0.00008
NM_001008537.3(NEXMIF):c.4338G>A (p.Lys1446=) rs200805356 0.00007
NM_001008537.3(NEXMIF):c.2411C>G (p.Thr804Ser) rs764843382 0.00005
NM_001008537.3(NEXMIF):c.3362G>A (p.Arg1121Gln) rs765054230 0.00004
NM_001008537.3(NEXMIF):c.4268G>A (p.Arg1423His) rs750153892 0.00004
NM_001008537.3(NEXMIF):c.2241C>A (p.Ser747Arg) rs762464608 0.00003
NM_001008537.3(NEXMIF):c.3826C>G (p.Gln1276Glu) rs754763619 0.00003
NM_001008537.3(NEXMIF):c.2786C>T (p.Thr929Ile) rs370164571 0.00002
NM_001008537.3(NEXMIF):c.1813C>G (p.Pro605Ala) rs747472111 0.00001
NM_001008537.3(NEXMIF):c.1877G>A (p.Arg626His) rs201084618 0.00001
NM_001008537.3(NEXMIF):c.2363T>C (p.Leu788Pro) rs894871556 0.00001
NM_001008537.3(NEXMIF):c.2508T>G (p.His836Gln) rs1342098183 0.00001
NM_001008537.3(NEXMIF):c.4405C>T (p.Arg1469Ter) rs763067676 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.1021G>A (p.Val341Ile) rs745417882
NM_001008537.3(NEXMIF):c.1042C>T (p.Arg348Ter) rs886041971
NM_001008537.3(NEXMIF):c.1123del (p.Glu375fs) rs886041774
NM_001008537.3(NEXMIF):c.1130A>G (p.Asp377Gly)
NM_001008537.3(NEXMIF):c.1131dup (p.Lys378Ter)
NM_001008537.3(NEXMIF):c.1142A>T (p.Asp381Val)
NM_001008537.3(NEXMIF):c.1159G>T (p.Glu387Ter) rs2080114203
NM_001008537.3(NEXMIF):c.1275_1276delinsAT (p.Gln426Ter)
NM_001008537.3(NEXMIF):c.1279G>T (p.Gly427Cys) rs966045847
NM_001008537.3(NEXMIF):c.1346C>T (p.Ser449Leu)
NM_001008537.3(NEXMIF):c.1376_1377del (p.Asp458_Cys459insTer) rs1057518730
NM_001008537.3(NEXMIF):c.1382G>A (p.Arg461His)
NM_001008537.3(NEXMIF):c.1417T>C (p.Ser473Pro) rs891017786
NM_001008537.3(NEXMIF):c.1423C>T (p.Gln475Ter)
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter) rs886041701
NM_001008537.3(NEXMIF):c.1456del (p.Val486fs) rs2080113065
NM_001008537.3(NEXMIF):c.1504del (p.Glu502fs)
NM_001008537.3(NEXMIF):c.1540G>C (p.Gly514Arg)
NM_001008537.3(NEXMIF):c.1569G>A (p.Trp523Ter) rs2080112579
NM_001008537.3(NEXMIF):c.1582del (p.Arg528fs) rs727503977
NM_001008537.3(NEXMIF):c.1597del (p.Arg533fs) rs1556016632
NM_001008537.3(NEXMIF):c.1598G>C (p.Arg533Pro)
NM_001008537.3(NEXMIF):c.1690A>G (p.Ser564Gly)
NM_001008537.3(NEXMIF):c.1752_1761del (p.Leu584fs) rs2080111520
NM_001008537.3(NEXMIF):c.1763G>A (p.Trp588Ter) rs2147440717
NM_001008537.3(NEXMIF):c.1769A>T (p.Lys590Met)
NM_001008537.3(NEXMIF):c.1789A>G (p.Thr597Ala) rs752183295
NM_001008537.3(NEXMIF):c.183del (p.Arg62fs) rs397518479
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001008537.3(NEXMIF):c.1993C>T (p.His665Tyr)
NM_001008537.3(NEXMIF):c.1995T>G (p.His665Gln)
NM_001008537.3(NEXMIF):c.203C>T (p.Pro68Leu)
NM_001008537.3(NEXMIF):c.2042del (p.Gly681fs) rs1556016555
NM_001008537.3(NEXMIF):c.2091_2113del (p.Asp698fs) rs2080109236
NM_001008537.3(NEXMIF):c.2166_2168delinsAC (p.Phe722fs) rs1556016529
NM_001008537.3(NEXMIF):c.2332_2333delinsTG (p.Glu778Trp) rs1556016488
NM_001008537.3(NEXMIF):c.2360T>C (p.Phe787Ser)
NM_001008537.3(NEXMIF):c.2457A>T (p.Leu819Phe)
NM_001008537.3(NEXMIF):c.2462C>A (p.Ala821Asp)
NM_001008537.3(NEXMIF):c.2506del (p.His836fs)
NM_001008537.3(NEXMIF):c.2524G>A (p.Glu842Lys) rs2080106700
NM_001008537.3(NEXMIF):c.2605T>C (p.Ser869Pro) rs1216179072
NM_001008537.3(NEXMIF):c.2667G>A (p.Trp889Ter)
NM_001008537.3(NEXMIF):c.2683del (p.Ser895fs) rs2080105696
NM_001008537.3(NEXMIF):c.2692C>T (p.Gln898Ter)
NM_001008537.3(NEXMIF):c.2714C>G (p.Ser905Ter) rs2147440006
NM_001008537.3(NEXMIF):c.2755del (p.Ser919fs)
NM_001008537.3(NEXMIF):c.2772_2773insTTTC (p.Glu925fs) rs797045646
NM_001008537.3(NEXMIF):c.280dup (p.Ala94fs) rs1569336024
NM_001008537.3(NEXMIF):c.2860C>T (p.Gln954Ter) rs2080104580
NM_001008537.3(NEXMIF):c.2869C>T (p.Gln957Ter) rs2147439880
NM_001008537.3(NEXMIF):c.2888_2889del (p.Ser963fs) rs1569335265
NM_001008537.3(NEXMIF):c.2999_3000del (p.Ser1000fs) rs875989829
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.3244C>T (p.Gln1082Ter) rs2080102486
NM_001008537.3(NEXMIF):c.3310G>T (p.Gly1104Ter) rs2147439567
NM_001008537.3(NEXMIF):c.3326_3327dup (p.Glu1110fs)
NM_001008537.3(NEXMIF):c.336G>A (p.Trp112Ter) rs2080118279
NM_001008537.3(NEXMIF):c.3395_3398del (p.Asn1132fs) rs2147439499
NM_001008537.3(NEXMIF):c.3409C>T (p.Gln1137Ter) rs2080101717
NM_001008537.3(NEXMIF):c.3427G>C (p.Asp1143His) rs267606510
NM_001008537.3(NEXMIF):c.3437C>A (p.Ser1146Tyr) rs2080101583
NM_001008537.3(NEXMIF):c.3443G>T (p.Ser1148Ile)
NM_001008537.3(NEXMIF):c.3458dup (p.Asn1153fs) rs1602211123
NM_001008537.3(NEXMIF):c.3461dup (p.Cys1155fs)
NM_001008537.3(NEXMIF):c.3470C>A (p.Ser1157Ter) rs1060499652
NM_001008537.3(NEXMIF):c.348dup (p.Glu117Ter)
NM_001008537.3(NEXMIF):c.3507C>A (p.Asn1169Lys)
NM_001008537.3(NEXMIF):c.3539C>A (p.Ser1180Ter)
NM_001008537.3(NEXMIF):c.3579del (p.Asn1195fs) rs2147439375
NM_001008537.3(NEXMIF):c.3592A>T (p.Lys1198Ter) rs2147439364
NM_001008537.3(NEXMIF):c.3595_3611del (p.Lys1199fs) rs1556016292
NM_001008537.3(NEXMIF):c.3597dup (p.Ser1200fs) rs397518478
NM_001008537.3(NEXMIF):c.3689del (p.Ala1230fs) rs1602210960
NM_001008537.3(NEXMIF):c.3700G>T (p.Gly1234Ter) rs1181632862
NM_001008537.3(NEXMIF):c.3728G>A (p.Arg1243His) rs1256402686
NM_001008537.3(NEXMIF):c.3859A>T (p.Lys1287Ter)
NM_001008537.3(NEXMIF):c.3950C>A (p.Ser1317Tyr)
NM_001008537.3(NEXMIF):c.3987T>A (p.Asp1329Glu)
NM_001008537.3(NEXMIF):c.4004T>C (p.Met1335Thr)
NM_001008537.3(NEXMIF):c.4055A>G (p.Asn1352Ser) rs1299106178
NM_001008537.3(NEXMIF):c.4075dup (p.Ser1359fs) rs1556016224
NM_001008537.3(NEXMIF):c.4248dup (p.Gly1417fs) rs1057518728
NM_001008537.3(NEXMIF):c.4271C>T (p.Ser1424Phe) rs2080097689
NM_001008537.3(NEXMIF):c.438C>A (p.Cys146Ter) rs1556016802
NM_001008537.3(NEXMIF):c.4397A>C (p.His1466Pro) rs2080097127
NM_001008537.3(NEXMIF):c.466G>A (p.Ala156Thr) rs2080117655
NM_001008537.3(NEXMIF):c.475C>A (p.Pro159Thr)
NM_001008537.3(NEXMIF):c.526A>T (p.Thr176Ser) rs747231678
NM_001008537.3(NEXMIF):c.644G>A (p.Gly215Glu) rs2147441499
NM_001008537.3(NEXMIF):c.652C>T (p.Arg218Ter) rs758719615
NM_001008537.3(NEXMIF):c.67del (p.Val23fs) rs2147442619
NM_001008537.3(NEXMIF):c.791_792del (p.Phe264fs) rs2080116462
NM_001008537.3(NEXMIF):c.792_795del (p.Phe264fs) rs2147441408
NM_001008537.3(NEXMIF):c.862G>T (p.Glu288Ter) rs2080115999
NM_001008537.3(NEXMIF):c.907C>G (p.Leu303Val) rs2080115822
NM_001008537.3(NEXMIF):c.926C>T (p.Ser309Phe)
NM_001008537.3(NEXMIF):c.937C>T (p.Arg313Ter) rs878854425
NM_001008537.3(NEXMIF):c.964C>T (p.Arg322Ter) rs1556016731
t(X;3)(q13.3;q11.2)dn

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