ClinVar Miner

List of variants studied for autosomal ichthyosis syndrome by Genome Diagnostics Laboratory,University Medical Center Utrecht

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_001127698.2(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116
NM_001127698.2(SPINK5):c.802C>T (p.Arg268Cys) rs142558269
NM_006214.4(PHYH):c.678+15C>T rs140995522
NM_021978.4(ST14):c.1113+15G>A rs597661
NM_021978.4(ST14):c.1215C>T (p.Asn405=) rs476106

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