ClinVar Miner

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

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP
NM_001127698.2(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116
NM_001127698.2(SPINK5):c.802C>T (p.Arg268Cys) rs142558269
NM_006846.3(SPINK5):c.1431-10T>G rs759079847
NM_006846.3(SPINK5):c.1480-10C>A rs375718943
NM_006846.3(SPINK5):c.1539G>A (p.Glu513=) rs184512279
NM_006846.3(SPINK5):c.1605G>T (p.Val535=) rs201831966
NM_006846.3(SPINK5):c.1607+7G>T rs541432320
NM_006846.3(SPINK5):c.1964G>A (p.Gly655Asp) rs142227576
NM_006846.3(SPINK5):c.2015+8C>A rs1457469450
NM_006846.3(SPINK5):c.2124T>C (p.Ala708=) rs200884153
NM_006846.3(SPINK5):c.2241-4C>G rs1554106267
NM_006846.3(SPINK5):c.2241-6C>T rs190365795
NM_006846.3(SPINK5):c.2667-4G>A rs180955184
NM_006846.3(SPINK5):c.2739+10del rs769519367
NM_006846.3(SPINK5):c.2795G>A (p.Arg932Lys) rs201942775
NM_006846.3(SPINK5):c.3183G>A (p.Pro1061=) rs77756935
NM_006846.3(SPINK5):c.3189C>T (p.Asp1063=) rs200751535
NM_006846.3(SPINK5):c.456G>A (p.Lys152=) rs777350307
NM_006846.3(SPINK5):c.598C>T (p.Leu200=) rs114784178
NM_006846.3(SPINK5):c.750C>T (p.Asp250=) rs199793551
NM_006846.3(SPINK5):c.799_800delinsAG (p.Gln267Arg) rs1581074856
NM_006846.4(SPINK5):c.1041T>A (p.Ala347=)
NM_006846.4(SPINK5):c.105A>T (p.Ala35=)
NM_006846.4(SPINK5):c.1071T>G (p.Ser357=) rs561354824
NM_006846.4(SPINK5):c.1093-4G>A rs754019195
NM_006846.4(SPINK5):c.1093-6C>T
NM_006846.4(SPINK5):c.1134A>G (p.Lys378=)
NM_006846.4(SPINK5):c.1218C>T (p.Phe406=) rs1581080925
NM_006846.4(SPINK5):c.1221-8T>C
NM_006846.4(SPINK5):c.1221-9C>A
NM_006846.4(SPINK5):c.1272A>G (p.Lys424=) rs1581081951
NM_006846.4(SPINK5):c.1284G>A (p.Lys428=)
NM_006846.4(SPINK5):c.1379G>T (p.Gly460Val)
NM_006846.4(SPINK5):c.1386T>C (p.Asp462=)
NM_006846.4(SPINK5):c.1401C>T (p.Gly467=) rs374181561
NM_006846.4(SPINK5):c.1430+8G>C
NM_006846.4(SPINK5):c.1461T>C (p.Ala487=) rs750918436
NM_006846.4(SPINK5):c.1557C>T (p.Gly519=)
NM_006846.4(SPINK5):c.1671A>G (p.Lys557=) rs1581089650
NM_006846.4(SPINK5):c.1704T>C (p.Ser568=)
NM_006846.4(SPINK5):c.1732C>A (p.Arg578=) rs201674667
NM_006846.4(SPINK5):c.1771C>T (p.Leu591=)
NM_006846.4(SPINK5):c.1788C>T (p.His596=)
NM_006846.4(SPINK5):c.1821-4A>G rs1211543982
NM_006846.4(SPINK5):c.1821-7C>G
NM_006846.4(SPINK5):c.1881T>A (p.Ala627=)
NM_006846.4(SPINK5):c.1896C>T (p.Cys632=) rs764541508
NM_006846.4(SPINK5):c.195G>A (p.Thr65=)
NM_006846.4(SPINK5):c.195G>T (p.Thr65=) rs370397387
NM_006846.4(SPINK5):c.1971T>C (p.Asp657=)
NM_006846.4(SPINK5):c.2115C>T (p.Asp705=)
NM_006846.4(SPINK5):c.2127G>A (p.Glu709=) rs369323668
NM_006846.4(SPINK5):c.2190T>C (p.Asp730=)
NM_006846.4(SPINK5):c.2205G>A (p.Ser735=) rs768901845
NM_006846.4(SPINK5):c.2241-18C>T
NM_006846.4(SPINK5):c.2319A>G (p.Thr773=)
NM_006846.4(SPINK5):c.2325T>C (p.Asp775=)
NM_006846.4(SPINK5):c.2349T>C (p.Asn783=) rs1356587554
NM_006846.4(SPINK5):c.2415T>C (p.Asn805=)
NM_006846.4(SPINK5):c.2442-4C>A
NM_006846.4(SPINK5):c.2514A>G (p.Thr838=)
NM_006846.4(SPINK5):c.2526C>T (p.Ser842=)
NM_006846.4(SPINK5):c.2538+8A>G
NM_006846.4(SPINK5):c.2539-4G>A
NM_006846.4(SPINK5):c.2640T>C (p.Asn880=)
NM_006846.4(SPINK5):c.2688A>G (p.Arg896=)
NM_006846.4(SPINK5):c.2700T>C (p.Asp900=)
NM_006846.4(SPINK5):c.2814C>T (p.His938=)
NM_006846.4(SPINK5):c.2826A>C (p.Gly942=)
NM_006846.4(SPINK5):c.3042T>C (p.Cys1014=) rs1237574831
NM_006846.4(SPINK5):c.3048C>T (p.Asp1016=)
NM_006846.4(SPINK5):c.3093C>T (p.Asn1031=)
NM_006846.4(SPINK5):c.3186+9A>T rs375728523
NM_006846.4(SPINK5):c.336T>G (p.Pro112=)
NM_006846.4(SPINK5):c.402T>C (p.Ala134=) rs371877583
NM_006846.4(SPINK5):c.450A>G (p.Glu150=)
NM_006846.4(SPINK5):c.468A>G (p.Pro156=)
NM_006846.4(SPINK5):c.474+7T>A
NM_006846.4(SPINK5):c.489T>A (p.Ala163=) rs574656084
NM_006846.4(SPINK5):c.528A>C (p.Thr176=)
NM_006846.4(SPINK5):c.602+10A>C rs1444836729
NM_006846.4(SPINK5):c.663A>G (p.Glu221=)
NM_006846.4(SPINK5):c.666+10C>T rs773205014
NM_006846.4(SPINK5):c.744C>G (p.Gly248=)
NM_006846.4(SPINK5):c.81+10G>A
NM_006846.4(SPINK5):c.984C>T (p.Asn328=)
NM_006846.4(SPINK5):c.999T>C (p.Cys333=)

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