ClinVar Miner

List of variants in gene SPINK5 reported as pathogenic for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP
NC_000005.9:g.(?_147443360)_(147484583_?)del
NM_001127698.2(SPINK5):c.1431-12G>A rs368134354
NM_001127698.2(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591
NM_001127698.2(SPINK5):c.891C>T (p.Cys297=) rs752941297
NM_006846.3(SPINK5):c.1048C>T (p.Arg350Ter) rs373463881
NM_006846.3(SPINK5):c.1089T>G (p.Tyr363Ter) rs752777832
NM_006846.3(SPINK5):c.1302+4A>T rs201269335
NM_006846.3(SPINK5):c.1437del (p.Glu480fs) rs1554104853
NM_006846.3(SPINK5):c.1816_1820+21delinsCT rs1561695740
NM_006846.3(SPINK5):c.1888-1G>A rs759255682
NM_006846.3(SPINK5):c.1915_1916del (p.Leu639fs) rs1581096271
NM_006846.3(SPINK5):c.2264dup (p.Asn755fs) rs748978134
NM_006846.3(SPINK5):c.2368C>T (p.Arg790Ter) rs121908387
NM_006846.3(SPINK5):c.238dup (p.Ala80fs)
NM_006846.3(SPINK5):c.2468del (p.Lys823fs) rs565782662
NM_006846.3(SPINK5):c.2468dup (p.Lys824fs) rs565782662
NM_006846.3(SPINK5):c.283-2A>T rs587777749
NM_006846.3(SPINK5):c.3018T>A (p.Cys1006Ter) rs766978225
NM_006846.3(SPINK5):c.354_357del (p.Cys119fs) rs1561680487
NM_006846.3(SPINK5):c.355_371delinsGACAACATATGACAACAGATGAC (p.Cys119_Lys124delinsAspAsnIleTer) rs1581064755
NM_006846.3(SPINK5):c.652C>T (p.Arg218Ter) rs199757347
NM_006846.3(SPINK5):c.690del (p.Lys230fs) rs1561684604
NM_006846.3(SPINK5):c.81+2T>A rs1131691490
NM_006846.3(SPINK5):c.995del (p.Met332fs) rs1561686960
NM_006846.4(SPINK5):c.1000C>T (p.Gln334Ter)
NM_006846.4(SPINK5):c.1012C>T (p.Gln338Ter)
NM_006846.4(SPINK5):c.1111C>T (p.Arg371Ter)
NM_006846.4(SPINK5):c.1825C>T (p.Gln609Ter)
NM_006846.4(SPINK5):c.2038_2039del (p.Lys680fs)
NM_006846.4(SPINK5):c.2579del (p.Lys860fs) rs1362009010
NM_006846.4(SPINK5):c.2611C>T (p.Arg871Ter)
NM_006846.4(SPINK5):c.2671C>T (p.Arg891Ter)
NM_006846.4(SPINK5):c.316_317del (p.Asp106fs)
NM_006846.4(SPINK5):c.374del (p.Thr125fs) rs1419297868
NM_006846.4(SPINK5):c.67A>T (p.Lys23Ter)
NM_006846.4(SPINK5):c.850del (p.Glu284fs) rs1581074967
NM_006846.4(SPINK5):c.882+1_882+3del

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