ClinVar Miner

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

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_001127698.2(SPINK5):c.1431-12G>A rs368134354
NM_001127698.2(SPINK5):c.891C>T (p.Cys297=) rs752941297
NM_006846.3(SPINK5):c.2441+1G>A rs1561701382
NM_006846.3(SPINK5):c.817_818del (p.Asn273fs) rs761490126
NM_006846.4(SPINK5):c.2423C>T (p.Thr808Ile)
NM_006846.4(SPINK5):c.2441+3_2441+6del
NM_006846.4(SPINK5):c.81+5G>A

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