List of variants in gene NEXMIF reported as uncertain significance by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 93

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HGVS	dbSNP	gnomAD frequency
NM_001008537.3(NEXMIF):c.2134C>A (p.Pro712Thr)	rs1192882008	0.00006
NM_001008537.3(NEXMIF):c.413G>A (p.Cys138Tyr)	rs754465132	0.00004
NM_001008537.3(NEXMIF):c.1119G>C (p.Trp373Cys)	rs780581302	0.00003
NM_001008537.3(NEXMIF):c.2147T>G (p.Val716Gly)	rs1022775047	0.00003
NM_001008537.3(NEXMIF):c.2504A>C (p.His835Pro)	rs762983389	0.00003
NM_001008537.3(NEXMIF):c.2576A>G (p.Gln859Arg)	rs747672466	0.00003
NM_001008537.3(NEXMIF):c.2587C>T (p.Leu863Phe)	rs778485933	0.00003
NM_001008537.3(NEXMIF):c.1675G>A (p.Gly559Ser)	rs1253434745	0.00002
NM_001008537.3(NEXMIF):c.1855G>A (p.Val619Met)	rs946890461	0.00002
NM_001008537.3(NEXMIF):c.4054A>C (p.Asn1352His)	rs2080098817	0.00002
NM_001008537.3(NEXMIF):c.4439del (p.Ala1480fs)	rs2080096846	0.00002
NM_001008537.3(NEXMIF):c.4458-2A>G	rs748987591	0.00002
NM_001008537.3(NEXMIF):c.911G>T (p.Gly304Val)	rs376455886	0.00002
NM_001008537.3(NEXMIF):c.1084T>C (p.Ser362Pro)	rs777229795	0.00001
NM_001008537.3(NEXMIF):c.1166G>A (p.Gly389Glu)	rs974217155	0.00001
NM_001008537.3(NEXMIF):c.1636A>G (p.Asn546Asp)	rs1480751157	0.00001
NM_001008537.3(NEXMIF):c.2041G>A (p.Gly681Ser)	rs775140424	0.00001
NM_001008537.3(NEXMIF):c.2314C>T (p.Arg772Cys)	rs998926695	0.00001
NM_001008537.3(NEXMIF):c.2369C>T (p.Thr790Met)	rs1356318438	0.00001
NM_001008537.3(NEXMIF):c.239C>T (p.Pro80Leu)	rs1472519537	0.00001
NM_001008537.3(NEXMIF):c.2582G>A (p.Cys861Tyr)	rs942852403	0.00001
NM_001008537.3(NEXMIF):c.2720A>C (p.Glu907Ala)	rs746824207	0.00001
NM_001008537.3(NEXMIF):c.3371A>T (p.Gln1124Leu)	rs992677972	0.00001
NM_001008537.3(NEXMIF):c.3482A>G (p.Asp1161Gly)	rs758308279	0.00001
NM_001008537.3(NEXMIF):c.361G>A (p.Ala121Thr)	rs769778503	0.00001
NM_001008537.3(NEXMIF):c.3703G>A (p.Glu1235Lys)	rs778573611	0.00001
NM_001008537.3(NEXMIF):c.3874G>T (p.Gly1292Cys)	rs1291386998	0.00001
NM_001008537.3(NEXMIF):c.3932G>A (p.Arg1311Gln)	rs867465185	0.00001
NM_001008537.3(NEXMIF):c.4150G>A (p.Gly1384Arg)	rs368234158	0.00001
NM_001008537.3(NEXMIF):c.4465G>A (p.Asp1489Asn)	rs751841142	0.00001
NM_001008537.3(NEXMIF):c.784G>A (p.Glu262Lys)	rs1232982423	0.00001
NM_001008537.3(NEXMIF):c.-48+5G>A
NM_001008537.3(NEXMIF):c.1034G>A (p.Cys345Tyr)
NM_001008537.3(NEXMIF):c.105G>A (p.Met35Ile)
NM_001008537.3(NEXMIF):c.1112T>A (p.Ile371Asn)	rs2147441217
NM_001008537.3(NEXMIF):c.1132A>C (p.Lys378Gln)
NM_001008537.3(NEXMIF):c.1149G>T (p.Lys383Asn)
NM_001008537.3(NEXMIF):c.1187A>G (p.Glu396Gly)	rs2147441135
NM_001008537.3(NEXMIF):c.1279G>T (p.Gly427Cys)	rs966045847
NM_001008537.3(NEXMIF):c.1325A>G (p.Asp442Gly)	rs2147441052
NM_001008537.3(NEXMIF):c.1373A>G (p.Asp458Gly)	rs1169451214
NM_001008537.3(NEXMIF):c.1376G>A (p.Cys459Tyr)
NM_001008537.3(NEXMIF):c.1381C>T (p.Arg461Cys)	rs1417864291
NM_001008537.3(NEXMIF):c.1417T>C (p.Ser473Pro)	rs891017786
NM_001008537.3(NEXMIF):c.1501G>A (p.Gly501Ser)	rs747796062
NM_001008537.3(NEXMIF):c.1556A>T (p.Asp519Val)	rs1556016638
NM_001008537.3(NEXMIF):c.1591G>C (p.Val531Leu)
NM_001008537.3(NEXMIF):c.1697C>T (p.Thr566Ile)
NM_001008537.3(NEXMIF):c.1955A>G (p.Gln652Arg)
NM_001008537.3(NEXMIF):c.200T>A (p.Leu67Gln)	rs2147441858
NM_001008537.3(NEXMIF):c.213G>T (p.Lys71Asn)	rs2147441845
NM_001008537.3(NEXMIF):c.2200A>G (p.Lys734Glu)	rs1556016518
NM_001008537.3(NEXMIF):c.2257C>G (p.Gln753Glu)
NM_001008537.3(NEXMIF):c.2450C>T (p.Thr817Ile)
NM_001008537.3(NEXMIF):c.2509T>G (p.Ser837Ala)	rs2147440168
NM_001008537.3(NEXMIF):c.2513C>T (p.Pro838Leu)
NM_001008537.3(NEXMIF):c.2578G>T (p.Asp860Tyr)	rs2147440111
NM_001008537.3(NEXMIF):c.2605T>C (p.Ser869Pro)	rs1216179072
NM_001008537.3(NEXMIF):c.2626C>T (p.His876Tyr)	rs2147440074
NM_001008537.3(NEXMIF):c.264A>C (p.Glu88Asp)	rs2080118588
NM_001008537.3(NEXMIF):c.2654A>C (p.Tyr885Ser)	rs1276495540
NM_001008537.3(NEXMIF):c.2662G>A (p.Val888Met)
NM_001008537.3(NEXMIF):c.2723T>A (p.Ile908Lys)	rs773043102
NM_001008537.3(NEXMIF):c.2781C>A (p.Asn927Lys)
NM_001008537.3(NEXMIF):c.2795C>A (p.Thr932Lys)
NM_001008537.3(NEXMIF):c.2899T>A (p.Cys967Ser)	rs2147439863
NM_001008537.3(NEXMIF):c.3086A>C (p.His1029Pro)	rs2147439713
NM_001008537.3(NEXMIF):c.3119T>C (p.Ile1040Thr)
NM_001008537.3(NEXMIF):c.3126G>C (p.Glu1042Asp)	rs1569335193
NM_001008537.3(NEXMIF):c.3149C>T (p.Thr1050Ile)
NM_001008537.3(NEXMIF):c.3302G>C (p.Gly1101Ala)	rs1388842555
NM_001008537.3(NEXMIF):c.3347G>C (p.Cys1116Ser)	rs2080102020
NM_001008537.3(NEXMIF):c.3350G>A (p.Ser1117Asn)	rs2080101983
NM_001008537.3(NEXMIF):c.3367G>T (p.Val1123Phe)
NM_001008537.3(NEXMIF):c.3485C>T (p.Pro1162Leu)	rs2147439423
NM_001008537.3(NEXMIF):c.3655G>A (p.Val1219Ile)
NM_001008537.3(NEXMIF):c.3691G>T (p.Ala1231Ser)	rs1602210955
NM_001008537.3(NEXMIF):c.3737G>A (p.Ser1246Asn)
NM_001008537.3(NEXMIF):c.377T>C (p.Met126Thr)	rs2147441704
NM_001008537.3(NEXMIF):c.3867C>A (p.Ser1289Arg)
NM_001008537.3(NEXMIF):c.4021C>G (p.Leu1341Val)	rs1085307662
NM_001008537.3(NEXMIF):c.4159G>A (p.Gly1387Arg)	rs2147438927
NM_001008537.3(NEXMIF):c.4189G>T (p.Gly1397Cys)	rs2080098214
NM_001008537.3(NEXMIF):c.4202G>A (p.Ser1401Asn)
NM_001008537.3(NEXMIF):c.4275CTT[1] (p.Phe1427del)	rs2147438794
NM_001008537.3(NEXMIF):c.4294A>G (p.Ser1432Gly)	rs764248445
NM_001008537.3(NEXMIF):c.4304G>A (p.Ser1435Asn)	rs1191839167
NM_001008537.3(NEXMIF):c.4458G>A (p.Arg1486=)	rs912315192
NM_001008537.3(NEXMIF):c.49A>G (p.Asn17Asp)	rs2147442631
NM_001008537.3(NEXMIF):c.505G>A (p.Asp169Asn)	rs1569335941
NM_001008537.3(NEXMIF):c.566C>T (p.Ala189Val)	rs2147441549
NM_001008537.3(NEXMIF):c.584A>T (p.Tyr195Phe)
NM_001008537.3(NEXMIF):c.926_982dup (p.Leu327_Leu328insSerLeuLysIleArgTyrGluSerPheGlnAspAsnValArgAspLysThrThrLeu)

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