ClinVar Miner

List of variants in gene NEXMIF reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_001008537.3(NEXMIF):c.1716G>T (p.Glu572Asp) rs148005156 0.00028
NM_001008537.3(NEXMIF):c.2951A>G (p.Asn984Ser) rs375623451 0.00013
NM_001008537.3(NEXMIF):c.3460C>A (p.Pro1154Thr) rs781129973 0.00011
NM_001008537.3(NEXMIF):c.265C>T (p.His89Tyr) rs752314023 0.00009
NM_001008537.3(NEXMIF):c.4346G>A (p.Arg1449His) rs778760434 0.00006
NM_001008537.3(NEXMIF):c.4406G>A (p.Arg1469Gln) rs151004644 0.00006
NM_001008537.3(NEXMIF):c.3650G>A (p.Arg1217His) rs143271748 0.00005
NM_001008537.3(NEXMIF):c.262G>A (p.Glu88Lys) rs927047621 0.00004
NM_001008537.3(NEXMIF):c.413G>A (p.Cys138Tyr) rs754465132 0.00004
NM_001008537.3(NEXMIF):c.4321G>A (p.Gly1441Arg) rs745720102 0.00004
NM_001008537.3(NEXMIF):c.1119G>C (p.Trp373Cys) rs780581302 0.00003
NM_001008537.3(NEXMIF):c.1161G>C (p.Glu387Asp) rs762881063 0.00003
NM_001008537.3(NEXMIF):c.2432C>T (p.Pro811Leu) rs750889767 0.00003
NM_001008537.3(NEXMIF):c.2357C>G (p.Thr786Ser) rs1450517934 0.00002
NM_001008537.3(NEXMIF):c.3319G>A (p.Asp1107Asn) rs751468762 0.00002
NM_001008537.3(NEXMIF):c.1125G>T (p.Glu375Asp) rs1300706350 0.00001
NM_001008537.3(NEXMIF):c.1234C>A (p.Pro412Thr) rs1240885021 0.00001
NM_001008537.3(NEXMIF):c.139A>G (p.Ile47Val) rs774834561 0.00001
NM_001008537.3(NEXMIF):c.1520G>A (p.Arg507Lys) rs778472603 0.00001
NM_001008537.3(NEXMIF):c.1577A>G (p.Lys526Arg) rs371692121 0.00001
NM_001008537.3(NEXMIF):c.1757G>C (p.Gly586Ala) rs776845564 0.00001
NM_001008537.3(NEXMIF):c.1786A>G (p.Asn596Asp) rs1404043155 0.00001
NM_001008537.3(NEXMIF):c.2314C>T (p.Arg772Cys) rs998926695 0.00001
NM_001008537.3(NEXMIF):c.2320T>C (p.Ser774Pro) rs371138262 0.00001
NM_001008537.3(NEXMIF):c.2917G>C (p.Glu973Gln) rs768684416 0.00001
NM_001008537.3(NEXMIF):c.2920A>T (p.Ile974Phe) rs748858323 0.00001
NM_001008537.3(NEXMIF):c.3022T>C (p.Ser1008Pro) rs760616317 0.00001
NM_001008537.3(NEXMIF):c.3703G>A (p.Glu1235Lys) rs778573611 0.00001
NM_001008537.3(NEXMIF):c.3932G>A (p.Arg1311Gln) rs867465185 0.00001
NM_001008537.3(NEXMIF):c.4145A>G (p.Asn1382Ser) rs1556016213 0.00001
NM_001008537.3(NEXMIF):c.4243A>G (p.Met1415Val) rs797045648 0.00001
NM_001008537.3(NEXMIF):c.4258G>A (p.Glu1420Lys) rs756589710 0.00001
NM_001008537.3(NEXMIF):c.4337A>G (p.Lys1446Arg) rs771736722 0.00001
NM_001008537.3(NEXMIF):c.443G>A (p.Gly148Asp) rs752027152 0.00001
NM_001008537.3(NEXMIF):c.1054A>G (p.Ser352Gly)
NM_001008537.3(NEXMIF):c.1132A>C (p.Lys378Gln)
NM_001008537.3(NEXMIF):c.1336A>C (p.Ile446Leu)
NM_001008537.3(NEXMIF):c.1382G>A (p.Arg461His)
NM_001008537.3(NEXMIF):c.1775A>G (p.Lys592Arg)
NM_001008537.3(NEXMIF):c.1796C>T (p.Thr599Met)
NM_001008537.3(NEXMIF):c.1813C>A (p.Pro605Thr)
NM_001008537.3(NEXMIF):c.2099T>A (p.Val700Glu)
NM_001008537.3(NEXMIF):c.2311T>C (p.Ser771Pro) rs1569335460
NM_001008537.3(NEXMIF):c.2332_2333delinsTG (p.Glu778Trp) rs1556016488
NM_001008537.3(NEXMIF):c.2476A>G (p.Asn826Asp)
NM_001008537.3(NEXMIF):c.2494T>C (p.Tyr832His) rs1569335404
NM_001008537.3(NEXMIF):c.2521A>G (p.Asn841Asp) rs2147440160
NM_001008537.3(NEXMIF):c.2605T>C (p.Ser869Pro) rs1216179072
NM_001008537.3(NEXMIF):c.2849A>G (p.Tyr950Cys) rs373566578
NM_001008537.3(NEXMIF):c.2909A>T (p.Asn970Ile) rs1556016404
NM_001008537.3(NEXMIF):c.3126G>C (p.Glu1042Asp) rs1569335193
NM_001008537.3(NEXMIF):c.3202C>T (p.Leu1068Phe) rs1556016358
NM_001008537.3(NEXMIF):c.3418A>T (p.Met1140Leu)
NM_001008537.3(NEXMIF):c.3425A>G (p.Asn1142Ser) rs2080101661
NM_001008537.3(NEXMIF):c.3459C>A (p.Asn1153Lys)
NM_001008537.3(NEXMIF):c.3481G>T (p.Asp1161Tyr) rs1281329703
NM_001008537.3(NEXMIF):c.3578A>T (p.Gln1193Leu)
NM_001008537.3(NEXMIF):c.370G>A (p.Ala124Thr)
NM_001008537.3(NEXMIF):c.3728G>A (p.Arg1243His) rs1256402686
NM_001008537.3(NEXMIF):c.3728G>C (p.Arg1243Pro)
NM_001008537.3(NEXMIF):c.394T>C (p.Ser132Pro)
NM_001008537.3(NEXMIF):c.4052C>A (p.Pro1351His) rs2080098842
NM_001008537.3(NEXMIF):c.4074G>T (p.Glu1358Asp) rs1315310568
NM_001008537.3(NEXMIF):c.4341G>C (p.Leu1447Phe)
NM_001008537.3(NEXMIF):c.505G>A (p.Asp169Asn) rs1569335941
NM_001008537.3(NEXMIF):c.532G>A (p.Ala178Thr)
NM_001008537.3(NEXMIF):c.553_555dup (p.Gln185_Cys186insGln)
NM_001008537.3(NEXMIF):c.589G>A (p.Glu197Lys)
NM_001008537.3(NEXMIF):c.938G>A (p.Arg313Gln) rs1247214773
NM_001008537.3(NEXMIF):c.938G>T (p.Arg313Leu)

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