List of variants in gene NEXMIF reported as pathogenic by Invitae

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
NC_000023.11:g.(?_74739385)_(74745670_?)del
NM_001008537.3(NEXMIF):c.1000C>T (p.Gln334Ter)	rs2147441295
NM_001008537.3(NEXMIF):c.1042C>T (p.Arg348Ter)	rs886041971
NM_001008537.3(NEXMIF):c.1044dup (p.Glu349fs)	rs2147441259
NM_001008537.3(NEXMIF):c.1050dup (p.Lys351Ter)	rs2080115006
NM_001008537.3(NEXMIF):c.1084dup (p.Ser362fs)	rs2147441229
NM_001008537.3(NEXMIF):c.1118G>A (p.Trp373Ter)	rs2080114608
NM_001008537.3(NEXMIF):c.1123del (p.Glu375fs)	rs886041774
NM_001008537.3(NEXMIF):c.1123dup (p.Glu375fs)	rs886041774
NM_001008537.3(NEXMIF):c.1264A>T (p.Lys422Ter)
NM_001008537.3(NEXMIF):c.1350T>G (p.Tyr450Ter)	rs2147441019
NM_001008537.3(NEXMIF):c.1419del (p.Ser474fs)
NM_001008537.3(NEXMIF):c.1437del (p.Leu480fs)	rs2147440953
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter)	rs886041701
NM_001008537.3(NEXMIF):c.1476T>A (p.Tyr492Ter)	rs2147440933
NM_001008537.3(NEXMIF):c.1588A>T (p.Lys530Ter)
NM_001008537.3(NEXMIF):c.1591del (p.Lys530_Val531insTer)
NM_001008537.3(NEXMIF):c.1597del (p.Arg533fs)	rs1556016632
NM_001008537.3(NEXMIF):c.1610_1611del (p.Pro537fs)
NM_001008537.3(NEXMIF):c.1629_1635dup (p.Asn546delinsHisHisTer)	rs2147440783
NM_001008537.3(NEXMIF):c.1666del (p.Leu555_Val556insTer)
NM_001008537.3(NEXMIF):c.1783A>T (p.Arg595Ter)	rs2147440709
NM_001008537.3(NEXMIF):c.1873del (p.Ala625fs)	rs2147440618
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter)	rs786205208
NM_001008537.3(NEXMIF):c.1999del (p.Glu667fs)
NM_001008537.3(NEXMIF):c.2123_2124del (p.Glu708fs)	rs2147440462
NM_001008537.3(NEXMIF):c.2166_2168delinsAC (p.Phe722fs)	rs1556016529
NM_001008537.3(NEXMIF):c.2208_2209del (p.Gly737fs)
NM_001008537.3(NEXMIF):c.2215G>T (p.Glu739Ter)
NM_001008537.3(NEXMIF):c.2247_2248del (p.Leu750fs)
NM_001008537.3(NEXMIF):c.2251del (p.Glu751fs)	rs1569335485
NM_001008537.3(NEXMIF):c.2271del (p.Asn758fs)
NM_001008537.3(NEXMIF):c.2274_2278del (p.Asn758fs)	rs2147440346
NM_001008537.3(NEXMIF):c.2396C>A (p.Ser799Ter)
NM_001008537.3(NEXMIF):c.2400del (p.Ala801fs)	rs2080107446
NM_001008537.3(NEXMIF):c.2478_2479dup (p.Asn827fs)
NM_001008537.3(NEXMIF):c.2518del (p.Gln840fs)
NM_001008537.3(NEXMIF):c.2536dup (p.Thr846fs)	rs2147440148
NM_001008537.3(NEXMIF):c.2566C>T (p.Gln856Ter)
NM_001008537.3(NEXMIF):c.2575C>T (p.Gln859Ter)
NM_001008537.3(NEXMIF):c.2625del (p.His876fs)	rs2147440078
NM_001008537.3(NEXMIF):c.2656A>T (p.Arg886Ter)	rs2147440054
NM_001008537.3(NEXMIF):c.2673del (p.Asn891fs)	rs1556016438
NM_001008537.3(NEXMIF):c.2799C>A (p.Tyr933Ter)	rs2147439956
NM_001008537.3(NEXMIF):c.2816del (p.Asn939fs)	rs2147439932
NM_001008537.3(NEXMIF):c.2820del (p.Ser940fs)
NM_001008537.3(NEXMIF):c.2835C>A (p.Cys945Ter)	rs2080104883
NM_001008537.3(NEXMIF):c.2869del (p.Gln957fs)
NM_001008537.3(NEXMIF):c.2888_2889del (p.Ser963fs)	rs1569335265
NM_001008537.3(NEXMIF):c.2898dup (p.Cys967fs)	rs2080104332
NM_001008537.3(NEXMIF):c.2938C>T (p.Gln980Ter)	rs369835611
NM_001008537.3(NEXMIF):c.3011_3014del (p.Ser1004fs)	rs1556016381
NM_001008537.3(NEXMIF):c.3026T>G (p.Leu1009Ter)	rs2147439776
NM_001008537.3(NEXMIF):c.3056del (p.Asp1019fs)
NM_001008537.3(NEXMIF):c.3090C>A (p.Cys1030Ter)
NM_001008537.3(NEXMIF):c.3109C>T (p.Gln1037Ter)
NM_001008537.3(NEXMIF):c.3226del (p.Thr1076fs)	rs1556016352
NM_001008537.3(NEXMIF):c.3230del (p.Pro1077fs)	rs1556016350
NM_001008537.3(NEXMIF):c.3258T>A (p.Cys1086Ter)
NM_001008537.3(NEXMIF):c.3308del (p.Pro1103fs)
NM_001008537.3(NEXMIF):c.3314_3321del (p.Pro1105fs)	rs2147439558
NM_001008537.3(NEXMIF):c.3334del (p.Ile1112fs)	rs1569335135
NM_001008537.3(NEXMIF):c.3376G>T (p.Glu1126Ter)	rs2147439516
NM_001008537.3(NEXMIF):c.3458dup (p.Asn1153fs)	rs1602211123
NM_001008537.3(NEXMIF):c.3524C>A (p.Ser1175Ter)	rs2080101130
NM_001008537.3(NEXMIF):c.354_355dup (p.Glu119fs)
NM_001008537.3(NEXMIF):c.3595_3611del (p.Lys1199fs)	rs1556016292
NM_001008537.3(NEXMIF):c.3597dup (p.Ser1200fs)	rs397518478
NM_001008537.3(NEXMIF):c.3800del (p.Pro1267fs)	rs1569334937
NM_001008537.3(NEXMIF):c.3814A>T (p.Lys1272Ter)	rs2147439176
NM_001008537.3(NEXMIF):c.422del (p.Gln141fs)	rs878854418
NM_001008537.3(NEXMIF):c.4408G>T (p.Glu1470Ter)
NM_001008537.3(NEXMIF):c.507_511del (p.Asp169fs)	rs1602212778
NM_001008537.3(NEXMIF):c.520del (p.Tyr174fs)
NM_001008537.3(NEXMIF):c.571G>T (p.Glu191Ter)	rs2147441539
NM_001008537.3(NEXMIF):c.589G>T (p.Glu197Ter)	rs2080117161
NM_001008537.3(NEXMIF):c.617dup (p.Phe207fs)	rs2080117124
NM_001008537.3(NEXMIF):c.630dup (p.Lys211Ter)
NM_001008537.3(NEXMIF):c.635C>G (p.Ser212Ter)	rs2080117063
NM_001008537.3(NEXMIF):c.652C>T (p.Arg218Ter)	rs758719615
NM_001008537.3(NEXMIF):c.694C>T (p.Gln232Ter)	rs2080116822
NM_001008537.3(NEXMIF):c.713del (p.Ala238fs)
NM_001008537.3(NEXMIF):c.736dup (p.Thr246fs)
NM_001008537.3(NEXMIF):c.746del (p.Ala249fs)	rs2080116669
NM_001008537.3(NEXMIF):c.804_807del (p.Ser268fs)	rs2080116341
NM_001008537.3(NEXMIF):c.811G>T (p.Glu271Ter)
NM_001008537.3(NEXMIF):c.846_849del (p.Val283fs)	rs1602212618
NM_001008537.3(NEXMIF):c.880dup (p.Tyr294fs)
NM_001008537.3(NEXMIF):c.882C>A (p.Tyr294Ter)
NM_001008537.3(NEXMIF):c.937C>T (p.Arg313Ter)	rs878854425
NM_001008537.3(NEXMIF):c.939dup (p.Tyr314fs)
NM_001008537.3(NEXMIF):c.964C>T (p.Arg322Ter)	rs1556016731
NM_001008537.3(NEXMIF):c.971_980dup (p.Leu328fs)

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