ClinVar Miner

List of variants in gene NEXMIF reported as likely pathogenic

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Total variants: 20
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 Xq13.3(chrX:74016853-74178303)x0
NC_000023.11:g.(?_74739385)_(74745670_?)dup
NM_001008537.3(NEXMIF):c.1123G>T (p.Glu375Ter) rs1602212476
NM_001008537.3(NEXMIF):c.1123del (p.Glu375fs) rs886041774
NM_001008537.3(NEXMIF):c.1275_1276delinsAT (p.Gln426Ter)
NM_001008537.3(NEXMIF):c.1635_1636del (p.Asn546fs) rs2080112105
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001008537.3(NEXMIF):c.2091_2113del (p.Asp698fs) rs2080109236
NM_001008537.3(NEXMIF):c.3310G>T (p.Gly1104Ter) rs2147439567
NM_001008537.3(NEXMIF):c.3395_3398del (p.Asn1132fs) rs2147439499
NM_001008537.3(NEXMIF):c.3437C>A (p.Ser1146Tyr) rs2080101583
NM_001008537.3(NEXMIF):c.3539C>A (p.Ser1180Ter)
NM_001008537.3(NEXMIF):c.3592A>T (p.Lys1198Ter) rs2147439364
NM_001008537.3(NEXMIF):c.3630del (p.Lys1210fs) rs778917289
NM_001008537.3(NEXMIF):c.3859A>T (p.Lys1287Ter)
NM_001008537.3(NEXMIF):c.614_615insTATGGGGTTCTGC (p.Gly206fs)
NM_001008537.3(NEXMIF):c.67del (p.Val23fs) rs2147442619
NM_001008537.3(NEXMIF):c.694C>T (p.Gln232Ter) rs2080116822
NM_001008537.3(NEXMIF):c.791_792del (p.Phe264fs) rs2080116462
NM_001008537.3(NEXMIF):c.864AGA[1] (p.Glu289del)

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