ClinVar Miner

List of variants in gene SPINK5 reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_006846.4(SPINK5):c.389_392dup (p.Leu132fs) rs756874525 0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NM_006846.4(SPINK5):c.1048C>T (p.Arg350Ter) rs373463881 0.00003
NM_006846.4(SPINK5):c.1302+4A>T rs201269335 0.00002
NM_006846.4(SPINK5):c.649C>T (p.Arg217Ter) rs367958902 0.00002
NM_006846.4(SPINK5):c.81+2T>A rs1131691490 0.00002
NM_006846.4(SPINK5):c.2240+1G>A rs775341740 0.00001
NM_006846.4(SPINK5):c.2667-1G>A rs1057524476 0.00001
NM_006846.4(SPINK5):c.410+1G>A rs375224787 0.00001
NM_006846.4(SPINK5):c.81+5G>A rs771730802 0.00001
NM_006846.4(SPINK5):c.1089T>G (p.Tyr363Ter) rs752777832
NM_006846.4(SPINK5):c.136C>T (p.Gln46Ter) rs886039547
NM_006846.4(SPINK5):c.1430+1G>T rs1309309448
NM_006846.4(SPINK5):c.1431-12G>A rs368134354
NM_006846.4(SPINK5):c.1530C>A (p.Cys510Ter) rs1554105045
NM_006846.4(SPINK5):c.153del (p.Gln52fs) rs1752706120
NM_006846.4(SPINK5):c.1615_1619del (p.Glu539fs) rs1554105205
NM_006846.4(SPINK5):c.1732C>T (p.Arg578Ter) rs201674667
NM_006846.4(SPINK5):c.1816_1820+21delinsCT rs1561695740
NM_006846.4(SPINK5):c.2215C>T (p.Gln739Ter) rs766028970
NM_006846.4(SPINK5):c.2264dup (p.Asn755fs) rs748978134
NM_006846.4(SPINK5):c.2326del (p.Glu776fs) rs1131691815
NM_006846.4(SPINK5):c.2368C>T (p.Arg790Ter) rs121908387
NM_006846.4(SPINK5):c.238dup (p.Ala80fs) rs752179828
NM_006846.4(SPINK5):c.2467A>T (p.Lys823Ter) rs886041508
NM_006846.4(SPINK5):c.2468del (p.Lys823fs) rs565782662
NM_006846.4(SPINK5):c.2468dup (p.Lys824fs) rs565782662
NM_006846.4(SPINK5):c.2471_2474del (p.Lys824fs)
NM_006846.4(SPINK5):c.2474_2475del (p.Glu825fs)
NM_006846.4(SPINK5):c.2622T>A (p.Tyr874Ter) rs1057520643
NM_006846.4(SPINK5):c.2901del (p.Glu968fs) rs1581109809
NM_006846.4(SPINK5):c.316_317del (p.Asp106fs) rs763649250
NM_006846.4(SPINK5):c.652C>T (p.Arg218Ter) rs199757347
NM_006846.4(SPINK5):c.691del (p.Gln231fs) rs1753397877
NM_006846.4(SPINK5):c.882+2T>C rs1057518161
NM_006846.4(SPINK5):c.941_956del (p.Glu314fs)

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