ClinVar Miner

List of variants in gene SPINK5 reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_006846.4(SPINK5):c.2667-13A>T rs2052537 0.78792
NM_006846.4(SPINK5):c.1659C>T (p.Val553=) rs2303071 0.58781
NM_006846.4(SPINK5):c.3009T>C (p.Gly1003=) rs2400478 0.56263
NM_006846.4(SPINK5):c.2132G>A (p.Arg711Gln) rs3777134 0.54171
NM_006846.4(SPINK5):c.2412C>T (p.Gly804=) rs33920397 0.54161
NM_006846.4(SPINK5):c.2358C>T (p.Leu786=) rs17704908 0.54150
NM_006846.4(SPINK5):c.800A>G (p.Gln267Arg) rs6892205 0.50665
NM_006846.4(SPINK5):c.1004C>T (p.Ala335Val) rs34482796 0.45563
NM_006846.4(SPINK5):c.1011-12C>T rs1422991 0.45033
NM_006846.4(SPINK5):c.1389A>G (p.Gly463=) rs6896303 0.44173
NM_006846.4(SPINK5):c.1258A>G (p.Lys420Glu) rs2303067 0.44148
NM_006846.4(SPINK5):c.1188T>C (p.His396=) rs2303065 0.44136
NM_006846.4(SPINK5):c.1103G>A (p.Ser368Asn) rs2303063 0.44127
NM_006846.4(SPINK5):c.*44T>C rs4349706 0.43753
NM_006846.4(SPINK5):c.*208C>G rs3088193 0.43751
NM_006846.4(SPINK5):c.*361_*363dup rs397704765 0.43679
NM_006846.4(SPINK5):c.1156G>A (p.Asp386Asn) rs2303064 0.24722
NM_006846.4(SPINK5):c.2475G>T (p.Glu825Asp) rs2303070 0.10250
NM_006846.4(SPINK5):c.*330T>C rs72660265 0.09913
NM_006846.4(SPINK5):c.1344G>A (p.Arg448=) rs17107741 0.05403
NM_006846.4(SPINK5):c.-61A>C rs74572734 0.04900
NM_006846.4(SPINK5):c.209+15C>T rs3752677 0.04511
NM_006846.4(SPINK5):c.2661C>G (p.Ser887Arg) rs28408445 0.04324
NM_006846.4(SPINK5):c.2965-10G>C rs58888156 0.04288
NM_006846.4(SPINK5):c.1851T>C (p.Ala617=) rs17718737 0.03431
NM_006846.4(SPINK5):c.*59C>T rs73794699 0.03338
NM_006846.4(SPINK5):c.316G>A (p.Asp106Asn) rs17860502 0.03121
NM_006846.4(SPINK5):c.531G>A (p.Arg177=) rs35121983 0.02736
NM_006846.4(SPINK5):c.2915A>G (p.His972Arg) rs17705005 0.02442
NM_006846.4(SPINK5):c.2762A>G (p.Asn921Ser) rs73271166 0.01566
NM_006846.4(SPINK5):c.119G>C (p.Gly40Ala) rs73269156 0.01335
NM_006846.4(SPINK5):c.2754A>G (p.Glu918=) rs114635730 0.01171
NM_006846.4(SPINK5):c.2864T>C (p.Val955Ala) rs115820034 0.01140
NM_006846.4(SPINK5):c.1552C>T (p.Arg518Cys) rs115504632 0.01067
NM_006846.4(SPINK5):c.3186+8C>T rs115366845 0.01052
NM_006846.4(SPINK5):c.1764T>G (p.Ile588Met) rs35877540 0.01015
NM_006846.4(SPINK5):c.2905A>G (p.Lys969Glu) rs3188691 0.00856
NM_006846.4(SPINK5):c.2241-6C>T rs190365795 0.00842
NM_006846.4(SPINK5):c.2895G>A (p.Lys965=) rs34966234 0.00755
NM_006846.4(SPINK5):c.*358A>G rs527953668 0.00689
NM_006846.4(SPINK5):c.-19G>A rs12522603 0.00660
NM_006846.4(SPINK5):c.1322G>A (p.Arg441His) rs34393923 0.00653
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_006846.4(SPINK5):c.2667-4G>A rs180955184 0.00542
NM_006846.4(SPINK5):c.1128C>T (p.Asn376=) rs78128189 0.00360
NM_006846.4(SPINK5):c.3183G>A (p.Pro1061=) rs77756935 0.00345
NM_006846.4(SPINK5):c.2061G>A (p.Gln687=) rs36111383 0.00336
NM_006846.4(SPINK5):c.1964G>A (p.Gly655Asp) rs142227576 0.00313
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00297
NM_006846.4(SPINK5):c.1605G>T (p.Val535=) rs201831966 0.00259
NM_006846.4(SPINK5):c.2795G>A (p.Arg932Lys) rs201942775 0.00145
NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys) rs190657753 0.00132
NM_006846.4(SPINK5):c.1132A>C (p.Lys378Gln) rs180696183 0.00064
NM_006846.4(SPINK5):c.2124T>C (p.Ala708=) rs200884153 0.00058
NM_006846.4(SPINK5):c.738C>T (p.Val246=) rs149544665 0.00027
NM_006846.4(SPINK5):c.750C>T (p.Asp250=) rs199793551 0.00021
NM_006846.4(SPINK5):c.*229A>C rs759149324 0.00013
NM_006846.4(SPINK5):c.3113C>A (p.Thr1038Lys) rs370311628 0.00011
NM_006846.4(SPINK5):c.*301C>T rs187725907 0.00009
NM_006846.4(SPINK5):c.1431-10T>G rs759079847 0.00008
NM_006846.4(SPINK5):c.1607+7G>T rs541432320 0.00007
NM_006846.4(SPINK5):c.2239T>C (p.Leu747=) rs759451448 0.00007
NM_006846.4(SPINK5):c.1339G>A (p.Gly447Arg) rs765752936 0.00006
NM_006846.4(SPINK5):c.1732C>A (p.Arg578=) rs201674667 0.00006
NM_006846.4(SPINK5):c.1820+11G>A rs796478719 0.00006
NM_006846.4(SPINK5):c.*90G>A rs978677310 0.00005
NM_006846.4(SPINK5):c.1129G>A (p.Gly377Arg) rs376109480 0.00004
NM_006846.4(SPINK5):c.1540C>A (p.His514Asn) rs189170702 0.00004
NM_006846.4(SPINK5):c.489T>A (p.Ala163=) rs574656084 0.00004
NM_006846.4(SPINK5):c.606A>C (p.Leu202Phe) rs750627345 0.00004
NM_006846.4(SPINK5):c.834A>C (p.Gln278His) rs201354872 0.00004
NM_006846.4(SPINK5):c.*78A>G rs774183421 0.00003
NM_006846.4(SPINK5):c.1111C>T (p.Arg371Ter) rs777436361 0.00003
NM_006846.4(SPINK5):c.1897G>A (p.Asp633Asn) rs754319450 0.00003
NM_006846.4(SPINK5):c.3121C>T (p.Arg1041Cys) rs374003659 0.00003
NM_006846.4(SPINK5):c.1772T>C (p.Leu591Pro) rs775502935 0.00002
NM_006846.4(SPINK5):c.2736A>G (p.Ala912=) rs773053071 0.00002
NM_006846.4(SPINK5):c.3018T>A (p.Cys1006Ter) rs766978225 0.00002
NM_006846.4(SPINK5):c.840G>T (p.Leu280Phe) rs759053532 0.00002
NM_006846.4(SPINK5):c.1194C>T (p.Asn398=) rs750608792 0.00001
NM_006846.4(SPINK5):c.2360T>C (p.Ile787Thr) rs759856421 0.00001
NM_006846.4(SPINK5):c.2652G>A (p.Met884Ile) rs1431258015 0.00001
NM_006846.4(SPINK5):c.274C>A (p.Pro92Thr) rs1212563023 0.00001
NM_006846.4(SPINK5):c.2964+14T>G rs1017737800 0.00001
NM_006846.4(SPINK5):c.3075C>T (p.Cys1025=) rs571812048 0.00001
NM_006846.4(SPINK5):c.3190G>A (p.Glu1064Lys) rs757745500 0.00001
NM_006846.4(SPINK5):c.-10C>T rs778902700
NM_006846.4(SPINK5):c.1093-10A>G rs2303062
NM_006846.4(SPINK5):c.1384G>A (p.Asp462Asn) rs1266893770
NM_006846.4(SPINK5):c.1557C>A (p.Gly519=) rs880687
NM_006846.4(SPINK5):c.1605G>A (p.Val535=) rs201831966
NM_006846.4(SPINK5):c.1615_1618delinsCTTTTTCTATTACAGCA (p.Glu539fs) rs1561693720
NM_006846.4(SPINK5):c.1739C>G (p.Pro580Arg) rs770045852
NM_006846.4(SPINK5):c.1919A>C (p.Gln640Pro) rs1754030459
NM_006846.4(SPINK5):c.2108C>T (p.Thr703Ile) rs1398660016
NM_006846.4(SPINK5):c.2290G>T (p.Gly764Trp) rs778017808
NM_006846.4(SPINK5):c.2343G>C (p.Met781Ile) rs1452834406
NM_006846.4(SPINK5):c.2666+4C>T rs376671081
NM_006846.4(SPINK5):c.3043G>A (p.Gly1015Ser) rs1483638724
NM_006846.4(SPINK5):c.493C>T (p.Arg165Trp) rs192473184
NM_006846.4(SPINK5):c.628C>A (p.Arg210=) rs535512727
NM_006846.4(SPINK5):c.652C>T (p.Arg218Ter) rs199757347
NM_006846.4(SPINK5):c.739C>T (p.Arg247Cys) rs371290967
NM_006846.4(SPINK5):c.860C>A (p.Thr287Asn) rs755830397

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