ClinVar Miner

List of variants in gene NEXMIF reported by Genetic Services Laboratory, University of Chicago

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001008537.3(NEXMIF):c.2598C>A (p.Ser866=) rs41298498 0.01502
NM_001008537.3(NEXMIF):c.151C>A (p.Pro51Thr) rs145018752 0.00705
NM_001008537.3(NEXMIF):c.3798C>T (p.Gly1266=) rs149185175 0.00527
NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015 0.00258
NM_001008537.3(NEXMIF):c.4509T>C (p.Pro1503=) rs41303725 0.00055
NM_001008537.3(NEXMIF):c.2098G>C (p.Val700Leu) rs141776597 0.00038
NM_001008537.3(NEXMIF):c.133G>A (p.Ala45Thr) rs199960807 0.00030
NM_001008537.3(NEXMIF):c.206C>T (p.Ser69Phe) rs201351157 0.00014
NM_001008537.3(NEXMIF):c.1854G>A (p.Glu618=) rs142687313 0.00012
NM_001008537.3(NEXMIF):c.3402C>A (p.His1134Gln) rs138632224 0.00011
NM_001008537.3(NEXMIF):c.4338G>A (p.Lys1446=) rs200805356 0.00007
NM_001008537.3(NEXMIF):c.3386T>G (p.Phe1129Cys) rs202207238 0.00006
NM_001008537.3(NEXMIF):c.2669C>T (p.Pro890Leu) rs377201508 0.00005
NM_001008537.3(NEXMIF):c.381G>A (p.Glu127=) rs148717498 0.00005
NM_001008537.3(NEXMIF):c.2130G>A (p.Lys710=) rs749479992 0.00004
NM_001008537.3(NEXMIF):c.3637G>A (p.Gly1213Ser) rs757442837 0.00003
NM_001008537.3(NEXMIF):c.3319G>A (p.Asp1107Asn) rs751468762 0.00002
NM_001008537.3(NEXMIF):c.4243A>G (p.Met1415Val) rs797045648 0.00001
NM_001008537.3(NEXMIF):c.1597del (p.Arg533fs) rs1556016632
NM_001008537.3(NEXMIF):c.1998AGA[1] (p.Glu667del) rs764439412
NM_001008537.3(NEXMIF):c.2406T>A (p.Asn802Lys) rs1307046706
NM_001008537.3(NEXMIF):c.2560C>A (p.Pro854Thr) rs797045645
NM_001008537.3(NEXMIF):c.2772_2773insTTTC (p.Glu925fs) rs797045646
NM_001008537.3(NEXMIF):c.3972C>T (p.Ala1324=) rs797045647

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