ClinVar Miner

List of variants in gene SPINK5 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 103
Download table as spreadsheet
HGVS dbSNP
NC_000005.10:g.148099496_148099497del
NM_006846.3(SPINK5):c.1011-223C>G
NM_006846.3(SPINK5):c.1048C>T (p.Arg350Ter) rs373463881
NM_006846.3(SPINK5):c.1087T>C (p.Tyr363His) rs1554104431
NM_006846.3(SPINK5):c.1092+159A>G
NM_006846.3(SPINK5):c.1092+172A>G
NM_006846.3(SPINK5):c.1092+238T>A
NM_006846.3(SPINK5):c.1093-209G>C
NM_006846.3(SPINK5):c.1093-226A>G
NM_006846.3(SPINK5):c.1128C>T (p.Asn376=) rs78128189
NM_006846.3(SPINK5):c.1156G>A (p.Asp386Asn) rs2303064
NM_006846.3(SPINK5):c.1221-241dup
NM_006846.3(SPINK5):c.1302+16C>T rs112708641
NM_006846.3(SPINK5):c.1302+4A>T rs201269335
NM_006846.3(SPINK5):c.1303-100G>A
NM_006846.3(SPINK5):c.1366G>T (p.Asp456Tyr) rs757370601
NM_006846.3(SPINK5):c.136C>T (p.Gln46Ter) rs886039547
NM_006846.3(SPINK5):c.1431-12G>A rs368134354
NM_006846.3(SPINK5):c.1431-13C>T rs375240260
NM_006846.3(SPINK5):c.1431-75C>G rs10477362
NM_006846.3(SPINK5):c.1480-10C>A rs375718943
NM_006846.3(SPINK5):c.1480-241C>T
NM_006846.3(SPINK5):c.1530C>A (p.Cys510Ter) rs1554105045
NM_006846.3(SPINK5):c.1539G>A (p.Glu513=) rs184512279
NM_006846.3(SPINK5):c.1552C>T (p.Arg518Cys) rs115504632
NM_006846.3(SPINK5):c.1607+274G>A
NM_006846.3(SPINK5):c.1615_1619del (p.Glu539fs) rs1554105205
NM_006846.3(SPINK5):c.1764T>G (p.Ile588Met) rs35877540
NM_006846.3(SPINK5):c.1851T>C (p.Ala617=) rs17718737
NM_006846.3(SPINK5):c.1888-134C>T
NM_006846.3(SPINK5):c.1888-145T>G
NM_006846.3(SPINK5):c.1888-54G>A
NM_006846.3(SPINK5):c.1960C>T (p.Arg654Cys) rs199567491
NM_006846.3(SPINK5):c.1964G>A (p.Gly655Asp) rs142227576
NM_006846.3(SPINK5):c.2016-295C>G
NM_006846.3(SPINK5):c.2061G>A (p.Gln687=) rs36111383
NM_006846.3(SPINK5):c.209+234A>G
NM_006846.3(SPINK5):c.210-260C>T
NM_006846.3(SPINK5):c.210-295A>G
NM_006846.3(SPINK5):c.2112+247T>C
NM_006846.3(SPINK5):c.2112+278G>A
NM_006846.3(SPINK5):c.2113-227T>G
NM_006846.3(SPINK5):c.2113-270C>T
NM_006846.3(SPINK5):c.2124T>C (p.Ala708=) rs200884153
NM_006846.3(SPINK5):c.2208_2210CAA[1] (p.Asn738del) rs781321238
NM_006846.3(SPINK5):c.2215C>T (p.Gln739Ter) rs766028970
NM_006846.3(SPINK5):c.2240+165A>G
NM_006846.3(SPINK5):c.2240+1G>A rs775341740
NM_006846.3(SPINK5):c.2241-160G>C
NM_006846.3(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116
NM_006846.3(SPINK5):c.2264dup (p.Asn755fs) rs748978134
NM_006846.3(SPINK5):c.2313+228C>T
NM_006846.3(SPINK5):c.2314-322G>A
NM_006846.3(SPINK5):c.2326del (p.Glu776fs) rs1131691815
NM_006846.3(SPINK5):c.2442-16A>G rs148657069
NM_006846.3(SPINK5):c.2467A>T (p.Lys823Ter) rs886041508
NM_006846.3(SPINK5):c.2468del (p.Lys823fs) rs565782662
NM_006846.3(SPINK5):c.2468dup (p.Lys824fs) rs565782662
NM_006846.3(SPINK5):c.2475G>T (p.Glu825Asp) rs2303070
NM_006846.3(SPINK5):c.2622T>A (p.Tyr874Ter) rs1057520643
NM_006846.3(SPINK5):c.2666+233G>A
NM_006846.3(SPINK5):c.2666+297A>C
NM_006846.3(SPINK5):c.2667-14dup
NM_006846.3(SPINK5):c.2667-16T>G rs1057521635
NM_006846.3(SPINK5):c.2667-1G>A rs1057524476
NM_006846.3(SPINK5):c.2739+10del rs769519367
NM_006846.3(SPINK5):c.2740-170G>A rs3764930
NM_006846.3(SPINK5):c.2740-1G>C rs1057518067
NM_006846.3(SPINK5):c.2740-381A>G
NM_006846.3(SPINK5):c.282+198_282+199del
NM_006846.3(SPINK5):c.283-337C>T
NM_006846.3(SPINK5):c.283-339T>C
NM_006846.3(SPINK5):c.2867+273T>A
NM_006846.3(SPINK5):c.2868-169A>G
NM_006846.3(SPINK5):c.2964+225A>G
NM_006846.3(SPINK5):c.2964+249G>A
NM_006846.3(SPINK5):c.2964G>A (p.Leu988=) rs760791426
NM_006846.3(SPINK5):c.2965-330G>A
NM_006846.3(SPINK5):c.316G>A (p.Asp106Asn) rs17860502
NM_006846.3(SPINK5):c.3183G>A (p.Pro1061=) rs77756935
NM_006846.3(SPINK5):c.3186+200T>C
NM_006846.3(SPINK5):c.3189C>T (p.Asp1063=) rs200751535
NM_006846.3(SPINK5):c.389_392dup (p.Leu132fs) rs756874525
NM_006846.3(SPINK5):c.410+124A>G
NM_006846.3(SPINK5):c.410+37G>T
NM_006846.3(SPINK5):c.410+6T>C rs1554103297
NM_006846.3(SPINK5):c.531G>A (p.Arg177=) rs35121983
NM_006846.3(SPINK5):c.649C>T (p.Arg217Ter) rs367958902
NM_006846.3(SPINK5):c.667-250G>A
NM_006846.3(SPINK5):c.794+313A>T
NM_006846.3(SPINK5):c.795-228C>A
NM_006846.3(SPINK5):c.803G>A (p.Arg268His) rs375727921
NM_006846.3(SPINK5):c.81+165C>T
NM_006846.3(SPINK5):c.81+19G>A rs1057520976
NM_006846.3(SPINK5):c.81+206A>G
NM_006846.3(SPINK5):c.81+2T>A rs1131691490
NM_006846.3(SPINK5):c.81+88C>G
NM_006846.3(SPINK5):c.882+122G>A
NM_006846.3(SPINK5):c.882+141A>G
NM_006846.3(SPINK5):c.882+159G>A
NM_006846.3(SPINK5):c.882+238G>A
NM_006846.3(SPINK5):c.882+2T>C rs1057518161
NM_006846.3(SPINK5):c.883-170A>G

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.