ClinVar Miner

List of variants in gene SPINK5 reported as uncertain significance for B cell deficiency

Included ClinVar conditions (64):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_006846.4(SPINK5):c.*358A>G rs527953668 0.00689
NM_006846.4(SPINK5):c.1964G>A (p.Gly655Asp) rs142227576 0.00313
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.1960C>T (p.Arg654Cys) rs199567491 0.00041
NM_006846.4(SPINK5):c.603-3C>T rs185217593 0.00038
NM_006846.4(SPINK5):c.803G>A (p.Arg268His) rs375727921 0.00035
NM_006846.4(SPINK5):c.750C>T (p.Asp250=) rs199793551 0.00021
NM_006846.4(SPINK5):c.3003G>C (p.Arg1001Ser) rs778383258 0.00014
NM_006846.4(SPINK5):c.*229A>C rs759149324 0.00013
NM_006846.4(SPINK5):c.1165C>G (p.Gln389Glu) rs371745897 0.00011
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.1832C>T (p.Ala611Val) rs756226553 0.00009
NM_006846.4(SPINK5):c.1431-10T>G rs759079847 0.00008
NM_006846.4(SPINK5):c.893G>A (p.Ser298Asn) rs201879958 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.1499G>A (p.Arg500Gln) rs201428589 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.2167C>T (p.Arg723Trp) rs369782107 0.00006
NM_006846.4(SPINK5):c.2558G>A (p.Arg853Gln) rs376107938 0.00006
NM_006846.4(SPINK5):c.587T>C (p.Met196Thr) rs778955846 0.00006
NM_006846.4(SPINK5):c.677A>G (p.Lys226Arg) rs370010334 0.00006
NM_006846.4(SPINK5):c.*90G>A rs978677310 0.00005
NM_006846.4(SPINK5):c.1553G>A (p.Arg518His) rs576310290 0.00005
NM_006846.4(SPINK5):c.2666+5G>A rs185897034 0.00005
NM_006846.4(SPINK5):c.59C>T (p.Ala20Val) rs777592836 0.00005
NM_006846.4(SPINK5):c.1129G>A (p.Gly377Arg) rs376109480 0.00004
NM_006846.4(SPINK5):c.1525A>G (p.Ile509Val) rs201926841 0.00004
NM_006846.4(SPINK5):c.1540C>A (p.His514Asn) rs189170702 0.00004
NM_006846.4(SPINK5):c.1774G>C (p.Asp592His) rs760761246 0.00004
NM_006846.4(SPINK5):c.1887G>C (p.Lys629Asn) rs772652367 0.00004
NM_006846.4(SPINK5):c.2276G>A (p.Arg759His) rs781193914 0.00004
NM_006846.4(SPINK5):c.2678C>G (p.Ala893Gly) rs745918698 0.00004
NM_006846.4(SPINK5):c.3077T>G (p.Met1026Arg) rs373251772 0.00004
NM_006846.4(SPINK5):c.3166G>A (p.Ala1056Thr) rs199498786 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.1034A>G (p.Lys345Arg) rs1461539646 0.00003
NM_006846.4(SPINK5):c.1681G>A (p.Glu561Lys) rs771426270 0.00003
NM_006846.4(SPINK5):c.1897G>A (p.Asp633Asn) rs754319450 0.00003
NM_006846.4(SPINK5):c.1955C>T (p.Pro652Leu) rs191160111 0.00003
NM_006846.4(SPINK5):c.1961G>A (p.Arg654His) rs182767534 0.00003
NM_006846.4(SPINK5):c.2548C>T (p.Arg850Cys) rs774381522 0.00003
NM_006846.4(SPINK5):c.2849A>G (p.Tyr950Cys) rs188030639 0.00003
NM_006846.4(SPINK5):c.3121C>T (p.Arg1041Cys) rs374003659 0.00003
NM_006846.4(SPINK5):c.313A>G (p.Arg105Gly) rs371334869 0.00003
NM_006846.4(SPINK5):c.1135C>T (p.Leu379Phe) rs371578291 0.00002
NM_006846.4(SPINK5):c.1343G>A (p.Arg448Gln) rs375796789 0.00002
NM_006846.4(SPINK5):c.1586G>A (p.Cys529Tyr) rs764286291 0.00002
NM_006846.4(SPINK5):c.1660G>A (p.Glu554Lys) rs374599097 0.00002
NM_006846.4(SPINK5):c.173T>C (p.Met58Thr) rs773557840 0.00002
NM_006846.4(SPINK5):c.1772T>C (p.Leu591Pro) rs775502935 0.00002
NM_006846.4(SPINK5):c.182A>G (p.Asn61Ser) rs377031902 0.00002
NM_006846.4(SPINK5):c.2168G>A (p.Arg723Gln) rs755881402 0.00002
NM_006846.4(SPINK5):c.2386C>T (p.Arg796Trp) rs757605120 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.3101G>A (p.Arg1034His) rs775295911 0.00002
NM_006846.4(SPINK5):c.526A>G (p.Thr176Ala) rs200801701 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.1278A>C (p.Gln426His) rs747446927 0.00001
NM_006846.4(SPINK5):c.1282A>G (p.Lys428Glu) rs1428055248 0.00001
NM_006846.4(SPINK5):c.139G>T (p.Asp47Tyr) rs199620733 0.00001
NM_006846.4(SPINK5):c.1415T>C (p.Met472Thr) rs762735202 0.00001
NM_006846.4(SPINK5):c.1675A>G (p.Lys559Glu) rs777594346 0.00001
NM_006846.4(SPINK5):c.1702A>G (p.Ser568Gly) rs1326725036 0.00001
NM_006846.4(SPINK5):c.1820+53G>A rs754599628 0.00001
NM_006846.4(SPINK5):c.1825C>A (p.Gln609Lys) rs1366194827 0.00001
NM_006846.4(SPINK5):c.1844A>G (p.Glu615Gly) rs749375299 0.00001
NM_006846.4(SPINK5):c.2138A>T (p.Gln713Leu) rs762624618 0.00001
NM_006846.4(SPINK5):c.2360T>C (p.Ile787Thr) rs759856421 0.00001
NM_006846.4(SPINK5):c.2372A>C (p.Glu791Ala) rs756155612 0.00001
NM_006846.4(SPINK5):c.2387G>A (p.Arg796Gln) rs779242910 0.00001
NM_006846.4(SPINK5):c.2390G>A (p.Gly797Asp) rs1170375768 0.00001
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591 0.00001
NM_006846.4(SPINK5):c.2564T>C (p.Met855Thr) rs765056653 0.00001
NM_006846.4(SPINK5):c.2652G>A (p.Met884Ile) rs1431258015 0.00001
NM_006846.4(SPINK5):c.2672G>A (p.Arg891Gln) rs771456490 0.00001
NM_006846.4(SPINK5):c.2697A>C (p.Lys899Asn) rs775645249 0.00001
NM_006846.4(SPINK5):c.274C>A (p.Pro92Thr) rs1212563023 0.00001
NM_006846.4(SPINK5):c.2825G>A (p.Gly942Glu) rs368229591 0.00001
NM_006846.4(SPINK5):c.2885A>G (p.Glu962Gly) rs772801284 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.464A>G (p.Asn155Ser) rs778100225 0.00001
NM_006846.4(SPINK5):c.560G>A (p.Gly187Glu) rs1753254257 0.00001
NM_006846.4(SPINK5):c.56A>C (p.Asp19Ala) rs1204188199 0.00001
NM_006846.4(SPINK5):c.666+3A>G rs762435955 0.00001
NM_006846.4(SPINK5):c.730G>A (p.Asp244Asn) rs774534780 0.00001
NC_000005.10:g.(?_148086385)_(148116486_?)dup
NC_000005.10:g.(?_148136963)_(148137011_?)del
NC_000005.9:g.(?_147443608)_(147516554_?)dup
NC_000005.9:g.(?_147506526)_(147510972_?)del
NM_006846.4(SPINK5):c.-10C>T rs778902700
NM_006846.4(SPINK5):c.1010+7A>G rs2113105960
NM_006846.4(SPINK5):c.1072G>A (p.Gly358Arg) rs1451813366
NM_006846.4(SPINK5):c.1093-5G>A
NM_006846.4(SPINK5):c.1144A>T (p.Thr382Ser) rs770766012
NM_006846.4(SPINK5):c.1178G>A (p.Gly393Glu) rs2113116860
NM_006846.4(SPINK5):c.1216TTC[1] (p.Phe407del) rs2113117124
NM_006846.4(SPINK5):c.1345C>A (p.Leu449Ile) rs1431744993
NM_006846.4(SPINK5):c.1384G>A (p.Asp462Asn) rs1266893770
NM_006846.4(SPINK5):c.1386T>A (p.Asp462Glu) rs772479299
NM_006846.4(SPINK5):c.1414A>T (p.Met472Leu)
NM_006846.4(SPINK5):c.1498C>T (p.Arg500Trp) rs201611101
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.1712_1714del (p.Arg571del) rs1554105558
NM_006846.4(SPINK5):c.1724G>A (p.Arg575Lys)
NM_006846.4(SPINK5):c.1739C>G (p.Pro580Arg) rs770045852
NM_006846.4(SPINK5):c.178A>G (p.Ile60Val) rs1438419399
NM_006846.4(SPINK5):c.1892C>T (p.Thr631Ile)
NM_006846.4(SPINK5):c.1919A>C (p.Gln640Pro) rs1754030459
NM_006846.4(SPINK5):c.2042G>A (p.Arg681Lys)
NM_006846.4(SPINK5):c.2047G>C (p.Glu683Gln)
NM_006846.4(SPINK5):c.2108C>T (p.Thr703Ile) rs1398660016
NM_006846.4(SPINK5):c.2185C>T (p.Arg729Cys)
NM_006846.4(SPINK5):c.2208CAA[1] (p.Asn738del) rs781321238
NM_006846.4(SPINK5):c.2213A>G (p.Asn738Ser)
NM_006846.4(SPINK5):c.2234C>T (p.Ala745Val)
NM_006846.4(SPINK5):c.2290G>T (p.Gly764Trp) rs778017808
NM_006846.4(SPINK5):c.2296G>A (p.Gly766Arg) rs1008169582
NM_006846.4(SPINK5):c.2343G>C (p.Met781Ile) rs1452834406
NM_006846.4(SPINK5):c.2375G>A (p.Ser792Asn) rs2113193373
NM_006846.4(SPINK5):c.2390G>T (p.Gly797Val) rs1170375768
NM_006846.4(SPINK5):c.2447G>A (p.Arg816Lys) rs1754220479
NM_006846.4(SPINK5):c.2452G>A (p.Ala818Thr)
NM_006846.4(SPINK5):c.245A>G (p.His82Arg)
NM_006846.4(SPINK5):c.2478T>A (p.Asp826Glu)
NM_006846.4(SPINK5):c.2494ACAGGAGAAAGGAGCAAT[1] (p.832TGERSN[1]) rs554634510
NM_006846.4(SPINK5):c.2531A>G (p.Asp844Gly) rs1468330376
NM_006846.4(SPINK5):c.2612G>A (p.Arg871Gln)
NM_006846.4(SPINK5):c.2624G>A (p.Gly875Asp)
NM_006846.4(SPINK5):c.2632C>T (p.His878Tyr) rs748500823
NM_006846.4(SPINK5):c.2666+4C>T rs376671081
NM_006846.4(SPINK5):c.2728A>G (p.Asn910Asp)
NM_006846.4(SPINK5):c.2740-127_2740-126del rs797045108
NM_006846.4(SPINK5):c.274C>G (p.Pro92Ala) rs1212563023
NM_006846.4(SPINK5):c.2759G>A (p.Arg920Gln) rs371134163
NM_006846.4(SPINK5):c.2776A>C (p.Asn926His)
NM_006846.4(SPINK5):c.2891C>A (p.Ala964Glu) rs1754449328
NM_006846.4(SPINK5):c.3043G>A (p.Gly1015Ser) rs1483638724
NM_006846.4(SPINK5):c.3122G>T (p.Arg1041Leu)
NM_006846.4(SPINK5):c.3158G>A (p.Gly1053Glu)
NM_006846.4(SPINK5):c.328A>G (p.Ile110Val)
NM_006846.4(SPINK5):c.359G>A (p.Gly120Asp) rs1753156960
NM_006846.4(SPINK5):c.443A>C (p.Glu148Ala)
NM_006846.4(SPINK5):c.460A>C (p.Ser154Arg) rs756283031
NM_006846.4(SPINK5):c.460A>G (p.Ser154Gly)
NM_006846.4(SPINK5):c.46C>T (p.Leu16Phe) rs370369039
NM_006846.4(SPINK5):c.493C>T (p.Arg165Trp) rs192473184
NM_006846.4(SPINK5):c.4A>C (p.Lys2Gln) rs2127180920
NM_006846.4(SPINK5):c.628C>A (p.Arg210=) rs535512727
NM_006846.4(SPINK5):c.652C>G (p.Arg218Gly) rs199757347
NM_006846.4(SPINK5):c.666G>T (p.Lys222Asn) rs769098540
NM_006846.4(SPINK5):c.739C>T (p.Arg247Cys) rs371290967
NM_006846.4(SPINK5):c.776C>A (p.Ala259Asp) rs373819431
NM_006846.4(SPINK5):c.795-11A>G rs1561685366
NM_006846.4(SPINK5):c.860C>A (p.Thr287Asn) rs755830397
NM_006846.4(SPINK5):c.882+19_882+20delinsGG
NM_006846.4(SPINK5):c.899A>G (p.Tyr300Cys) rs2113105257
NM_006846.4(SPINK5):c.917A>G (p.Asn306Ser) rs947124939

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