ClinVar Miner

List of variants in gene CNNM2 reported by GeneDx

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Gene type:
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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_017649.5(CNNM2):c.1621+120C>T rs2297786 0.40848
NM_017649.5(CNNM2):c.1842T>C (p.Ser614=) rs2275271 0.40615
NM_017649.5(CNNM2):c.1621+279T>A rs2297787 0.17498
NM_017649.5(CNNM2):c.2419-217A>G rs2296569 0.12372
NM_017649.5(CNNM2):c.1903+144T>C rs11191533 0.12000
NM_017649.5(CNNM2):c.*3C>T rs2296568 0.10693
NM_017649.5(CNNM2):c.2073+310C>T rs12246689 0.10431
NM_017649.5(CNNM2):c.2310C>T (p.Ala770=) rs943037 0.08142
NM_017649.5(CNNM2):c.2544C>T (p.Asp848=) rs35647154 0.05419
NM_017649.5(CNNM2):c.113G>A (p.Arg38Gln) rs76057237 0.05045
NM_017649.5(CNNM2):c.1904-83T>C rs41287478 0.04763
NM_017649.5(CNNM2):c.1621+7408C>T rs143934882 0.01353
NM_017649.5(CNNM2):c.2419-53C>T rs115260652 0.01257
NM_017649.5(CNNM2):c.1134C>T (p.Leu378=) rs2297785 0.00410
NM_017649.5(CNNM2):c.47G>A (p.Gly16Glu) rs370580602 0.00015
NM_017649.5(CNNM2):c.2336A>G (p.Asn779Ser) rs201067221 0.00010
NM_017649.5(CNNM2):c.2311G>A (p.Val771Ile) rs750190975 0.00005
NM_017649.5(CNNM2):c.133G>T (p.Ala45Ser) rs755515176 0.00003
NM_017649.5(CNNM2):c.801C>T (p.Cys267=) rs367789750 0.00003
NM_017649.5(CNNM2):c.2384C>T (p.Ser795Leu) rs1564873187 0.00001
NM_017649.5(CNNM2):c.2390G>A (p.Arg797Gln) rs1477815087 0.00001
NM_017649.5(CNNM2):c.2477A>C (p.Gln826Pro) rs1487281040 0.00001
NM_017649.5(CNNM2):c.2603G>T (p.Ser868Ile) rs776439020 0.00001
NM_017649.5(CNNM2):c.*150C>T
NM_017649.5(CNNM2):c.1025T>C (p.Leu342Pro) rs2493375837
NM_017649.5(CNNM2):c.1033G>T (p.Val345Leu) rs2134150418
NM_017649.5(CNNM2):c.1037T>C (p.Val346Ala) rs1064794775
NM_017649.5(CNNM2):c.1057_1059del (p.Val353del)
NM_017649.5(CNNM2):c.1069G>A (p.Glu357Lys) rs786205910
NM_017649.5(CNNM2):c.1079C>T (p.Pro360Leu) rs2493376008
NM_017649.5(CNNM2):c.1081C>T (p.Gln361Ter) rs2134150496
NM_017649.5(CNNM2):c.1157C>G (p.Thr386Ser) rs2493376267
NM_017649.5(CNNM2):c.1205G>T (p.Gly402Val) rs1064794580
NM_017649.5(CNNM2):c.1210G>C (p.Glu404Gln)
NM_017649.5(CNNM2):c.1264G>A (p.Asp422Asn) rs2134150695
NM_017649.5(CNNM2):c.1264G>C (p.Asp422His)
NM_017649.5(CNNM2):c.1285_1287del (p.Lys429del) rs2493376607
NM_017649.5(CNNM2):c.1354C>G (p.Pro452Ala)
NM_017649.5(CNNM2):c.135_145del (p.Gly46fs) rs1590243044
NM_017649.5(CNNM2):c.1360C>T (p.Arg454Trp) rs2493376763
NM_017649.5(CNNM2):c.1419_1421del (p.Ile473del) rs2134150833
NM_017649.5(CNNM2):c.1439G>T (p.Arg480Leu) rs866823473
NM_017649.5(CNNM2):c.1621+288del rs752188951
NM_017649.5(CNNM2):c.1621+288dup rs752188951
NM_017649.5(CNNM2):c.1621+7026_1621+7029del rs140831673
NM_017649.5(CNNM2):c.1734A>C (p.Lys578Asn) rs1064795292
NM_017649.5(CNNM2):c.1775G>A (p.Arg592Lys)
NM_017649.5(CNNM2):c.1797C>G (p.His599Gln) rs1019965850
NM_017649.5(CNNM2):c.1846A>C (p.Met616Leu)
NM_017649.5(CNNM2):c.2036_2044del (p.Arg679_Lys681del)
NM_017649.5(CNNM2):c.2071C>G (p.Gln691Glu)
NM_017649.5(CNNM2):c.2073+226C>G rs7908280
NM_017649.5(CNNM2):c.2251C>A (p.Pro751Thr)
NM_017649.5(CNNM2):c.2261G>T (p.Cys754Phe) rs1554906985
NM_017649.5(CNNM2):c.2318C>T (p.Pro773Leu) rs1057524606
NM_017649.5(CNNM2):c.2351C>A (p.Ser784Tyr)
NM_017649.5(CNNM2):c.2354C>T (p.Ser785Leu) rs1256298908
NM_017649.5(CNNM2):c.2418+74C>A rs17727391
NM_017649.5(CNNM2):c.2428C>T (p.Gln810Ter)
NM_017649.5(CNNM2):c.2478G>T (p.Gln826His)
NM_017649.5(CNNM2):c.2529T>G (p.His843Gln) rs926981784
NM_017649.5(CNNM2):c.2540C>T (p.Pro847Leu) rs2134373244
NM_017649.5(CNNM2):c.2603G>A (p.Ser868Asn) rs776439020
NM_017649.5(CNNM2):c.301G>A (p.Val101Ile)
NM_017649.5(CNNM2):c.352A>T (p.Ile118Phe)
NM_017649.5(CNNM2):c.612del (p.Ser205fs) rs2134149733
NM_017649.5(CNNM2):c.623C>A (p.Thr208Lys)
NM_017649.5(CNNM2):c.626G>C (p.Gly209Ala) rs750633463
NM_017649.5(CNNM2):c.760C>G (p.Pro254Ala) rs1420464428
NM_017649.5(CNNM2):c.763T>C (p.Phe255Leu) rs2493375106
NM_017649.5(CNNM2):c.790CTG[4] (p.Leu266_Cys267insLeu) rs2134150102
NM_017649.5(CNNM2):c.814T>G (p.Phe272Val) rs2493375229
NM_017649.5(CNNM2):c.816C>G (p.Phe272Leu) rs2493375231
NM_017649.5(CNNM2):c.851C>G (p.Pro284Arg) rs1028264830
NM_017649.5(CNNM2):c.892_894del (p.Glu298del)
NM_017649.5(CNNM2):c.968A>G (p.Asn323Ser) rs2493375674
NM_017649.5(CNNM2):c.980A>G (p.Asn327Ser) rs2493375701

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