ClinVar Miner

List of variants in gene NEXMIF reported as pathogenic by GeneDx

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001008537.3(NEXMIF):c.1014dup (p.Pro339fs) rs1556016723
NM_001008537.3(NEXMIF):c.1042C>T (p.Arg348Ter) rs886041971
NM_001008537.3(NEXMIF):c.1123del (p.Glu375fs) rs886041774
NM_001008537.3(NEXMIF):c.1300G>T (p.Glu434Ter) rs1569335738
NM_001008537.3(NEXMIF):c.1441C>T (p.Arg481Ter) rs886041701
NM_001008537.3(NEXMIF):c.1493C>A (p.Ser498Ter) rs886042023
NM_001008537.3(NEXMIF):c.1713_1716del (p.Ser571fs)
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001008537.3(NEXMIF):c.2031dup (p.Ala678fs) rs1602211981
NM_001008537.3(NEXMIF):c.2138_2171dup (p.Ser724delinsArgGluGluSerAlaGlnTer) rs886041427
NM_001008537.3(NEXMIF):c.2205_2212del (p.Ala736fs) rs886041570
NM_001008537.3(NEXMIF):c.2458del (p.Asp820fs) rs1602211753
NM_001008537.3(NEXMIF):c.3053_3066del (p.Gly1018fs) rs878854419
NM_001008537.3(NEXMIF):c.3458dup (p.Asn1153fs) rs1602211123
NM_001008537.3(NEXMIF):c.3584dup (p.Asn1195fs) rs1602211044
NM_001008537.3(NEXMIF):c.422del (p.Gln141fs) rs878854418
NM_001008537.3(NEXMIF):c.617dup (p.Phe207fs) rs2080117124
NM_001008537.3(NEXMIF):c.625dup (p.Leu209fs) rs878854423
NM_001008537.3(NEXMIF):c.652C>T (p.Arg218Ter) rs758719615
NM_001008537.3(NEXMIF):c.682G>T (p.Glu228Ter) rs1569335893
NM_001008537.3(NEXMIF):c.766C>T (p.Gln256Ter) rs1064796882
NM_001008537.3(NEXMIF):c.846_849del (p.Val283fs) rs1602212618
NM_001008537.3(NEXMIF):c.937C>T (p.Arg313Ter) rs878854425
NM_001008537.3(NEXMIF):c.942T>G (p.Tyr314Ter) rs1556016735
NM_001008537.3(NEXMIF):c.964C>T (p.Arg322Ter) rs1556016731
NM_001008537.3(NEXMIF):c.991del (p.Glu331fs) rs1556016724

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