ClinVar Miner

List of variants in gene CNNM2 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_017649.5(CNNM2):c.47G>A (p.Gly16Glu) rs370580602 0.00015
NM_017649.5(CNNM2):c.1764C>T (p.Tyr588=) rs747058788 0.00011
NM_017649.5(CNNM2):c.2336A>G (p.Asn779Ser) rs201067221 0.00009
NM_017649.5(CNNM2):c.2625C>G (p.Ile875Met) rs751586358 0.00005
NM_017649.5(CNNM2):c.2593G>A (p.Ala865Thr) rs202176723 0.00004
NM_017649.5(CNNM2):c.801C>T (p.Cys267=) rs367789750 0.00004
NM_017649.5(CNNM2):c.2059G>A (p.Val687Ile) rs779494027 0.00003
NM_017649.5(CNNM2):c.1528C>T (p.Pro510Ser) rs766784112 0.00002
NM_017649.5(CNNM2):c.2012C>T (p.Ala671Val) rs375262395 0.00001
NM_017649.5(CNNM2):c.2255G>A (p.Arg752His) rs770187293 0.00001
NM_017649.5(CNNM2):c.2477A>C (p.Gln826Pro) rs1487281040 0.00001
NM_017649.5(CNNM2):c.595G>A (p.Ala199Thr) rs984170802 0.00001
NM_017649.5(CNNM2):c.1001T>G (p.Leu334Arg)
NM_017649.5(CNNM2):c.100A>T (p.Ser34Cys)
NM_017649.5(CNNM2):c.1025T>C (p.Leu342Pro)
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.1048A>G (p.Ile350Val)
NM_017649.5(CNNM2):c.1057_1059del (p.Val353del)
NM_017649.5(CNNM2):c.1079C>T (p.Pro360Leu)
NM_017649.5(CNNM2):c.1081C>T (p.Gln361Ter) rs2134150496
NM_017649.5(CNNM2):c.1157C>G (p.Thr386Ser)
NM_017649.5(CNNM2):c.1159T>C (p.Phe387Leu)
NM_017649.5(CNNM2):c.115G>A (p.Gly39Arg)
NM_017649.5(CNNM2):c.118A>G (p.Ile40Val) rs2134148877
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)
NM_017649.5(CNNM2):c.1306C>A (p.Gln436Lys)
NM_017649.5(CNNM2):c.1328C>A (p.Thr443Asn) rs764757429
NM_017649.5(CNNM2):c.133G>T (p.Ala45Ser)
NM_017649.5(CNNM2):c.134C>A (p.Ala45Glu)
NM_017649.5(CNNM2):c.1354C>G (p.Pro452Ala)
NM_017649.5(CNNM2):c.1360C>T (p.Arg454Trp)
NM_017649.5(CNNM2):c.137G>A (p.Gly46Glu)
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.1466C>G (p.Ser489Cys)
NM_017649.5(CNNM2):c.1489G>A (p.Val497Ile)
NM_017649.5(CNNM2):c.1566G>C (p.Leu522Phe)
NM_017649.5(CNNM2):c.1597G>A (p.Ala533Thr)
NM_017649.5(CNNM2):c.1622-4A>G rs766930033
NM_017649.5(CNNM2):c.164G>A (p.Ser55Asn)
NM_017649.5(CNNM2):c.1699G>A (p.Val567Ile) rs1402194113
NM_017649.5(CNNM2):c.1734A>C (p.Lys578Asn) rs1064795292
NM_017649.5(CNNM2):c.1775G>A (p.Arg592Lys)
NM_017649.5(CNNM2):c.1793C>T (p.Ala598Val)
NM_017649.5(CNNM2):c.1797C>G (p.His599Gln)
NM_017649.5(CNNM2):c.1846A>C (p.Met616Leu)
NM_017649.5(CNNM2):c.1924T>C (p.Ser642Pro)
NM_017649.5(CNNM2):c.1938G>T (p.Glu646Asp)
NM_017649.5(CNNM2):c.1961A>G (p.Lys654Arg)
NM_017649.5(CNNM2):c.1970A>G (p.Asn657Ser)
NM_017649.5(CNNM2):c.2036G>A (p.Arg679His)
NM_017649.5(CNNM2):c.2039A>G (p.Asn680Ser)
NM_017649.5(CNNM2):c.206A>G (p.Asn69Ser) rs1845515645
NM_017649.5(CNNM2):c.2071C>G (p.Gln691Glu)
NM_017649.5(CNNM2):c.2073+8_2073+9delinsTT
NM_017649.5(CNNM2):c.2115T>A (p.Phe705Leu)
NM_017649.5(CNNM2):c.2171del (p.Pro724fs) rs1564871031
NM_017649.5(CNNM2):c.2186G>A (p.Arg729His)
NM_017649.5(CNNM2):c.2240A>G (p.Asn747Ser) rs988049940
NM_017649.5(CNNM2):c.2251C>A (p.Pro751Thr)
NM_017649.5(CNNM2):c.2251C>T (p.Pro751Ser)
NM_017649.5(CNNM2):c.2261G>T (p.Cys754Phe) rs1554906985
NM_017649.5(CNNM2):c.226G>A (p.Gly76Arg)
NM_017649.5(CNNM2):c.2291G>A (p.Arg764Gln)
NM_017649.5(CNNM2):c.2308G>A (p.Ala770Thr)
NM_017649.5(CNNM2):c.2311G>A (p.Val771Ile)
NM_017649.5(CNNM2):c.2315C>T (p.Thr772Ile)
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)
NM_017649.5(CNNM2):c.2371A>G (p.Ile791Val)
NM_017649.5(CNNM2):c.2390G>A (p.Arg797Gln)
NM_017649.5(CNNM2):c.2418+19_2418+20delinsCC
NM_017649.5(CNNM2):c.2418+20_2418+21inv
NM_017649.5(CNNM2):c.2421C>A (p.Ile807=)
NM_017649.5(CNNM2):c.2428C>T (p.Gln810Ter)
NM_017649.5(CNNM2):c.2430G>T (p.Gln810His) rs2065703394
NM_017649.5(CNNM2):c.2458C>T (p.Arg820Trp)
NM_017649.5(CNNM2):c.2468A>G (p.Lys823Arg)
NM_017649.5(CNNM2):c.2478G>T (p.Gln826His)
NM_017649.5(CNNM2):c.2519C>G (p.Thr840Arg) rs374242727
NM_017649.5(CNNM2):c.2519C>T (p.Thr840Met)
NM_017649.5(CNNM2):c.2520G>A (p.Thr840=)
NM_017649.5(CNNM2):c.2529T>G (p.His843Gln)
NM_017649.5(CNNM2):c.2540C>T (p.Pro847Leu) rs2134373244
NM_017649.5(CNNM2):c.2557del (p.Leu853fs)
NM_017649.5(CNNM2):c.2594C>G (p.Ala865Gly)
NM_017649.5(CNNM2):c.2603G>A (p.Ser868Asn)
NM_017649.5(CNNM2):c.2603G>T (p.Ser868Ile)
NM_017649.5(CNNM2):c.2620G>A (p.Ala874Thr)
NM_017649.5(CNNM2):c.274G>A (p.Ala92Thr)
NM_017649.5(CNNM2):c.28A>G (p.Lys10Glu) rs2134148595
NM_017649.5(CNNM2):c.352A>T (p.Ile118Phe)
NM_017649.5(CNNM2):c.370G>A (p.Glu124Lys)
NM_017649.5(CNNM2):c.604G>T (p.Ala202Ser)
NM_017649.5(CNNM2):c.612del (p.Ser205fs) rs2134149733
NM_017649.5(CNNM2):c.614C>T (p.Ser205Leu) rs143215831
NM_017649.5(CNNM2):c.623C>A (p.Thr208Lys)
NM_017649.5(CNNM2):c.626G>C (p.Gly209Ala)
NM_017649.5(CNNM2):c.631_651del (p.Ala211_Gly217del)
NM_017649.5(CNNM2):c.655G>T (p.Gly219Trp)
NM_017649.5(CNNM2):c.680C>G (p.Pro227Arg) rs2134149942
NM_017649.5(CNNM2):c.744G>A (p.Glu248=)
NM_017649.5(CNNM2):c.760C>G (p.Pro254Ala)
NM_017649.5(CNNM2):c.763T>C (p.Phe255Leu)
NM_017649.5(CNNM2):c.790CTG[4] (p.Leu266_Cys267insLeu) rs2134150102
NM_017649.5(CNNM2):c.814T>G (p.Phe272Val)
NM_017649.5(CNNM2):c.816C>G (p.Phe272Leu)
NM_017649.5(CNNM2):c.851C>G (p.Pro284Arg)
NM_017649.5(CNNM2):c.884C>T (p.Thr295Met)
NM_017649.5(CNNM2):c.88C>T (p.Arg30Cys)
NM_017649.5(CNNM2):c.890A>G (p.Lys297Arg)
NM_017649.5(CNNM2):c.892_894del (p.Glu298del)
NM_017649.5(CNNM2):c.968A>G (p.Asn323Ser)
NM_017649.5(CNNM2):c.980A>G (p.Asn327Ser)

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